Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
Identifieur interne : 003559 ( Main/Exploration ); précédent : 003558; suivant : 003560Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
Auteurs : Arif B. Ekici [Allemagne] ; Thomas Hackenbeck [Allemagne] ; Vincent Morinière [France] ; Andrea Pannes [Allemagne] ; Maike Buettner [Allemagne] ; Steffen Uebe [Allemagne] ; Rolf Janka [Allemagne] ; Antje Wiesener [Allemagne] ; Ingo Hermann [Allemagne] ; Sina Grupp [Allemagne] ; Martin Hornberger [Allemagne] ; Tobias B. Huber [Allemagne] ; Nikky Isbel [Australie] ; George Mangos [Australie] ; Stella Mcginn [Australie] ; Daniela Soreth-Rieke [Allemagne] ; Bodo B. Beck [Allemagne] ; Michael Uder [Allemagne] ; Kerstin Amann [Allemagne] ; Corinne Antignac [France] ; André Reis [Allemagne] ; Kai-Uwe Eckardt [Allemagne] ; Michael S. Wiesener [Allemagne]Source :
- Kidney international [ 1523-1755 ] ; 2014.
Descripteurs français
- KwdFr :
- Aberrations des chromosomes, Atrophie, Chromosomes humains de la paire 1, Chromosomes humains de la paire 16, Femelle, Fibrose, Haplotypes, Humains, Imagerie par résonance magnétique, Mucine-1 (génétique), Mâle, Néphrite interstitielle (anatomopathologie), Néphrite interstitielle (génétique), Pedigree, Terminologie comme sujet, Tubules rénaux (anatomopathologie), Uromoduline (génétique).
- MESH :
- anatomopathologie : Néphrite interstitielle, Tubules rénaux.
- génétique : Mucine-1, Néphrite interstitielle, Uromoduline.
- Aberrations des chromosomes, Atrophie, Chromosomes humains de la paire 1, Chromosomes humains de la paire 16, Femelle, Fibrose, Haplotypes, Humains, Imagerie par résonance magnétique, Mâle, Pedigree, Terminologie comme sujet.
English descriptors
- KwdEn :
- Atrophy, Chromosome Aberrations, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 16, Female, Fibrosis, Haplotypes, Humans, Kidney Tubules (pathology), Magnetic Resonance Imaging, Male, Mucin-1 (genetics), Nephritis, Interstitial (genetics), Nephritis, Interstitial (pathology), Pedigree, Terminology as Topic, Uromodulin (genetics).
- MESH :
- chemical , genetics : Mucin-1, Uromodulin.
- genetics : Nephritis, Interstitial.
- pathology : Kidney Tubules, Nephritis, Interstitial.
- Atrophy, Chromosome Aberrations, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 16, Female, Fibrosis, Haplotypes, Humans, Magnetic Resonance Imaging, Male, Pedigree, Terminology as Topic.
Abstract
For decades, ill-defined autosomal dominant renal diseases have been reported, which originate from tubular cells and lead to tubular atrophy and interstitial fibrosis. These diseases are clinically indistinguishable, but caused by mutations in at least four different genes: UMOD, HNF1B, REN, and, as recently described, MUC1. Affected family members show renal fibrosis in the biopsy and gradually declining renal function, with renal failure usually occurring between the third and sixth decade of life. Here we describe 10 families and define eligibility criteria to consider this type of inherited disease, as well as propose a practicable approach for diagnosis. In contrast to what the frequently used term 'Medullary Cystic Kidney Disease' implies, development of (medullary) cysts is neither an early nor a typical feature, as determined by MRI. In addition to Sanger and gene panel sequencing of the four genes, we established SNaPshot minisequencing for the predescribed cytosine duplication within a distinct repeat region of MUC1 causing a frameshift. A mutation was found in 7 of 9 families (3 in UMOD and 4 in MUC1), with one indeterminate (UMOD p.T62P). On the basis of clinical and pathological characteristics we propose the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' as an improved terminology. This should enhance recognition and correct diagnosis of affected individuals, facilitate genetic counseling, and stimulate research into the underlying pathophysiology.
DOI: 10.1038/ki.2014.72
PubMed: 24670410
Affiliations:
- Allemagne, Australie, France
- Bade-Wurtemberg, Bavière, District de Fribourg-en-Brisgau, District de Moyenne-Franconie, Île-de-France
- Erlangen, Fribourg-en-Brisgau, Paris
- Université Paris-Descartes
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Le document en format XML
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Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Nephropathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Uebe, Steffen" sort="Uebe, Steffen" uniqKey="Uebe S" first="Steffen" last="Uebe">Steffen Uebe</name><affiliation wicri:level="3"><nlm:affiliation>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Janka, Rolf" sort="Janka, Rolf" uniqKey="Janka R" first="Rolf" last="Janka">Rolf Janka</name><affiliation wicri:level="3"><nlm:affiliation>Department of Radiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Radiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Wiesener, Antje" sort="Wiesener, Antje" uniqKey="Wiesener A" first="Antje" last="Wiesener">Antje Wiesener</name><affiliation wicri:level="3"><nlm:affiliation>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Hermann, Ingo" sort="Hermann, Ingo" uniqKey="Hermann I" first="Ingo" last="Hermann">Ingo Hermann</name><affiliation wicri:level="3"><nlm:affiliation>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Grupp, Sina" sort="Grupp, Sina" uniqKey="Grupp S" first="Sina" last="Grupp">Sina Grupp</name><affiliation wicri:level="3"><nlm:affiliation>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Hornberger, Martin" sort="Hornberger, Martin" uniqKey="Hornberger M" first="Martin" last="Hornberger">Martin Hornberger</name><affiliation wicri:level="1"><nlm:affiliation>Department of Nephrology and Hypertension, Hospital of Offenburg, Offenburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Nephrology and Hypertension, Hospital of Offenburg, Offenburg</wicri:regionArea><wicri:noRegion>Offenburg</wicri:noRegion><wicri:noRegion>Offenburg</wicri:noRegion><wicri:noRegion>Offenburg</wicri:noRegion></affiliation></author><author><name sortKey="Huber, Tobias B" sort="Huber, Tobias B" uniqKey="Huber T" first="Tobias B" last="Huber">Tobias B. Huber</name><affiliation wicri:level="3"><nlm:affiliation>1] Renal Division, University Hospital Freiburg, Freiburg, Germany [2] BIOSS Centre for Biological Signalling Studies, Albert-Ludwigs-University, Freiburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>1] Renal Division, University Hospital Freiburg, Freiburg, Germany [2] BIOSS Centre for Biological Signalling Studies, Albert-Ludwigs-University, Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement></placeName></affiliation></author><author><name sortKey="Isbel, Nikky" sort="Isbel, Nikky" uniqKey="Isbel N" first="Nikky" last="Isbel">Nikky Isbel</name><affiliation wicri:level="1"><nlm:affiliation>Department of Renal Medicine, Princess Alexandra Hospital, Brisbane, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Renal Medicine, Princess Alexandra Hospital, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Mangos, George" sort="Mangos, George" uniqKey="Mangos G" first="George" last="Mangos">George Mangos</name><affiliation wicri:level="1"><nlm:affiliation>Department of Renal Medicine, St George Clinical School, University of New South Wales, Kogarah, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Renal Medicine, St George Clinical School, University of New South Wales, Kogarah, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Mcginn, Stella" sort="Mcginn, Stella" uniqKey="Mcginn S" first="Stella" last="Mcginn">Stella Mcginn</name><affiliation wicri:level="1"><nlm:affiliation>Department of Renal Medicine, Royal North Shore Hospital, Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Renal Medicine, Royal North Shore Hospital, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Soreth Rieke, Daniela" sort="Soreth Rieke, Daniela" uniqKey="Soreth Rieke D" first="Daniela" last="Soreth-Rieke">Daniela Soreth-Rieke</name><affiliation wicri:level="1"><nlm:affiliation>KfH Nierenzentrum Miesbach, Miesbach, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>KfH Nierenzentrum Miesbach, Miesbach</wicri:regionArea><wicri:noRegion>Miesbach</wicri:noRegion><wicri:noRegion>Miesbach</wicri:noRegion><wicri:noRegion>Miesbach</wicri:noRegion></affiliation></author><author><name sortKey="Beck, Bodo B" sort="Beck, Bodo B" uniqKey="Beck B" first="Bodo B" last="Beck">Bodo B. Beck</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Human Genetics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Human Genetics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Uder, Michael" sort="Uder, Michael" uniqKey="Uder M" first="Michael" last="Uder">Michael Uder</name><affiliation wicri:level="3"><nlm:affiliation>Department of Radiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Radiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Amann, Kerstin" sort="Amann, Kerstin" uniqKey="Amann K" first="Kerstin" last="Amann">Kerstin Amann</name><affiliation wicri:level="3"><nlm:affiliation>Department of Nephropathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Nephropathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><affiliation wicri:level="4"><nlm:affiliation>1] Inserm, U983, Necker Hospital, Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>1] Inserm, U983, Necker Hospital, Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Reis, Andre" sort="Reis, Andre" uniqKey="Reis A" first="André" last="Reis">André Reis</name><affiliation wicri:level="3"><nlm:affiliation>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Eckardt, Kai Uwe" sort="Eckardt, Kai Uwe" uniqKey="Eckardt K" first="Kai-Uwe" last="Eckardt">Kai-Uwe Eckardt</name><affiliation wicri:level="3"><nlm:affiliation>Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Wiesener, Michael S" sort="Wiesener, Michael S" uniqKey="Wiesener M" first="Michael S" last="Wiesener">Michael S. Wiesener</name><affiliation wicri:level="3"><nlm:affiliation>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24670410</idno><idno type="pmid">24670410</idno><idno type="doi">10.1038/ki.2014.72</idno><idno type="wicri:Area/PubMed/Corpus">003519</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003519</idno><idno type="wicri:Area/PubMed/Curation">003406</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003406</idno><idno type="wicri:Area/PubMed/Checkpoint">003406</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003406</idno><idno type="wicri:Area/Ncbi/Merge">001901</idno><idno type="wicri:Area/Ncbi/Curation">001901</idno><idno type="wicri:Area/Ncbi/Checkpoint">001901</idno><idno type="wicri:Area/Main/Merge">003576</idno><idno type="wicri:Area/Main/Curation">003559</idno><idno type="wicri:Area/Main/Exploration">003559</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.</title><author><name sortKey="Ekici, Arif B" sort="Ekici, Arif B" uniqKey="Ekici A" first="Arif B" last="Ekici">Arif B. Ekici</name><affiliation wicri:level="3"><nlm:affiliation>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Hackenbeck, Thomas" sort="Hackenbeck, Thomas" uniqKey="Hackenbeck T" first="Thomas" last="Hackenbeck">Thomas Hackenbeck</name><affiliation wicri:level="3"><nlm:affiliation>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Moriniere, Vincent" sort="Moriniere, Vincent" uniqKey="Moriniere V" first="Vincent" last="Morinière">Vincent Morinière</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Assistance Publique-Hopitaux de Paris, Necker Hospital, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Assistance Publique-Hopitaux de Paris, Necker Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Pannes, Andrea" sort="Pannes, Andrea" uniqKey="Pannes A" first="Andrea" last="Pannes">Andrea Pannes</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Human Genetics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Human Genetics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Buettner, Maike" sort="Buettner, Maike" uniqKey="Buettner M" first="Maike" last="Buettner">Maike Buettner</name><affiliation wicri:level="3"><nlm:affiliation>Department of Nephropathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Nephropathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Uebe, Steffen" sort="Uebe, Steffen" uniqKey="Uebe S" first="Steffen" last="Uebe">Steffen Uebe</name><affiliation wicri:level="3"><nlm:affiliation>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Janka, Rolf" sort="Janka, Rolf" uniqKey="Janka R" first="Rolf" last="Janka">Rolf Janka</name><affiliation wicri:level="3"><nlm:affiliation>Department of Radiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Radiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Wiesener, Antje" sort="Wiesener, Antje" uniqKey="Wiesener A" first="Antje" last="Wiesener">Antje Wiesener</name><affiliation wicri:level="3"><nlm:affiliation>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Hermann, Ingo" sort="Hermann, Ingo" uniqKey="Hermann I" first="Ingo" last="Hermann">Ingo Hermann</name><affiliation wicri:level="3"><nlm:affiliation>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Grupp, Sina" sort="Grupp, Sina" uniqKey="Grupp S" first="Sina" last="Grupp">Sina Grupp</name><affiliation wicri:level="3"><nlm:affiliation>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Hornberger, Martin" sort="Hornberger, Martin" uniqKey="Hornberger M" first="Martin" last="Hornberger">Martin Hornberger</name><affiliation wicri:level="1"><nlm:affiliation>Department of Nephrology and Hypertension, Hospital of Offenburg, Offenburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Nephrology and Hypertension, Hospital of Offenburg, Offenburg</wicri:regionArea><wicri:noRegion>Offenburg</wicri:noRegion><wicri:noRegion>Offenburg</wicri:noRegion><wicri:noRegion>Offenburg</wicri:noRegion></affiliation></author><author><name sortKey="Huber, Tobias B" sort="Huber, Tobias B" uniqKey="Huber T" first="Tobias B" last="Huber">Tobias B. Huber</name><affiliation wicri:level="3"><nlm:affiliation>1] Renal Division, University Hospital Freiburg, Freiburg, Germany [2] BIOSS Centre for Biological Signalling Studies, Albert-Ludwigs-University, Freiburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>1] Renal Division, University Hospital Freiburg, Freiburg, Germany [2] BIOSS Centre for Biological Signalling Studies, Albert-Ludwigs-University, Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement></placeName></affiliation></author><author><name sortKey="Isbel, Nikky" sort="Isbel, Nikky" uniqKey="Isbel N" first="Nikky" last="Isbel">Nikky Isbel</name><affiliation wicri:level="1"><nlm:affiliation>Department of Renal Medicine, Princess Alexandra Hospital, Brisbane, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Renal Medicine, Princess Alexandra Hospital, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Mangos, George" sort="Mangos, George" uniqKey="Mangos G" first="George" last="Mangos">George Mangos</name><affiliation wicri:level="1"><nlm:affiliation>Department of Renal Medicine, St George Clinical School, University of New South Wales, Kogarah, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Renal Medicine, St George Clinical School, University of New South Wales, Kogarah, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Mcginn, Stella" sort="Mcginn, Stella" uniqKey="Mcginn S" first="Stella" last="Mcginn">Stella Mcginn</name><affiliation wicri:level="1"><nlm:affiliation>Department of Renal Medicine, Royal North Shore Hospital, Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Renal Medicine, Royal North Shore Hospital, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Soreth Rieke, Daniela" sort="Soreth Rieke, Daniela" uniqKey="Soreth Rieke D" first="Daniela" last="Soreth-Rieke">Daniela Soreth-Rieke</name><affiliation wicri:level="1"><nlm:affiliation>KfH Nierenzentrum Miesbach, Miesbach, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>KfH Nierenzentrum Miesbach, Miesbach</wicri:regionArea><wicri:noRegion>Miesbach</wicri:noRegion><wicri:noRegion>Miesbach</wicri:noRegion><wicri:noRegion>Miesbach</wicri:noRegion></affiliation></author><author><name sortKey="Beck, Bodo B" sort="Beck, Bodo B" uniqKey="Beck B" first="Bodo B" last="Beck">Bodo B. Beck</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Human Genetics, University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Human Genetics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Uder, Michael" sort="Uder, Michael" uniqKey="Uder M" first="Michael" last="Uder">Michael Uder</name><affiliation wicri:level="3"><nlm:affiliation>Department of Radiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Radiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Amann, Kerstin" sort="Amann, Kerstin" uniqKey="Amann K" first="Kerstin" last="Amann">Kerstin Amann</name><affiliation wicri:level="3"><nlm:affiliation>Department of Nephropathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Nephropathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><affiliation wicri:level="4"><nlm:affiliation>1] Inserm, U983, Necker Hospital, Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>1] Inserm, U983, Necker Hospital, Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Reis, Andre" sort="Reis, Andre" uniqKey="Reis A" first="André" last="Reis">André Reis</name><affiliation wicri:level="3"><nlm:affiliation>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Eckardt, Kai Uwe" sort="Eckardt, Kai Uwe" uniqKey="Eckardt K" first="Kai-Uwe" last="Eckardt">Kai-Uwe Eckardt</name><affiliation wicri:level="3"><nlm:affiliation>Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author><author><name sortKey="Wiesener, Michael S" sort="Wiesener, Michael S" uniqKey="Wiesener M" first="Michael S" last="Wiesener">Michael S. Wiesener</name><affiliation wicri:level="3"><nlm:affiliation>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea><placeName><settlement type="city">Erlangen</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Moyenne-Franconie</region></placeName></affiliation></author></analytic><series><title level="j">Kidney international</title><idno type="eISSN">1523-1755</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Atrophy</term><term>Chromosome Aberrations</term><term>Chromosomes, Human, Pair 1</term><term>Chromosomes, Human, Pair 16</term><term>Female</term><term>Fibrosis</term><term>Haplotypes</term><term>Humans</term><term>Kidney Tubules (pathology)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mucin-1 (genetics)</term><term>Nephritis, Interstitial (genetics)</term><term>Nephritis, Interstitial (pathology)</term><term>Pedigree</term><term>Terminology as Topic</term><term>Uromodulin (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Aberrations des chromosomes</term><term>Atrophie</term><term>Chromosomes humains de la paire 1</term><term>Chromosomes humains de la paire 16</term><term>Femelle</term><term>Fibrose</term><term>Haplotypes</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Mucine-1 (génétique)</term><term>Mâle</term><term>Néphrite interstitielle (anatomopathologie)</term><term>Néphrite interstitielle (génétique)</term><term>Pedigree</term><term>Terminologie comme sujet</term><term>Tubules rénaux (anatomopathologie)</term><term>Uromoduline (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Mucin-1</term><term>Uromodulin</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Néphrite interstitielle</term><term>Tubules rénaux</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Nephritis, Interstitial</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Mucine-1</term><term>Néphrite interstitielle</term><term>Uromoduline</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Kidney Tubules</term><term>Nephritis, Interstitial</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Atrophy</term><term>Chromosome Aberrations</term><term>Chromosomes, Human, Pair 1</term><term>Chromosomes, Human, Pair 16</term><term>Female</term><term>Fibrosis</term><term>Haplotypes</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Pedigree</term><term>Terminology as Topic</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Aberrations des chromosomes</term><term>Atrophie</term><term>Chromosomes humains de la paire 1</term><term>Chromosomes humains de la paire 16</term><term>Femelle</term><term>Fibrose</term><term>Haplotypes</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Mâle</term><term>Pedigree</term><term>Terminologie comme sujet</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">For decades, ill-defined autosomal dominant renal diseases have been reported, which originate from tubular cells and lead to tubular atrophy and interstitial fibrosis. These diseases are clinically indistinguishable, but caused by mutations in at least four different genes: UMOD, HNF1B, REN, and, as recently described, MUC1. Affected family members show renal fibrosis in the biopsy and gradually declining renal function, with renal failure usually occurring between the third and sixth decade of life. Here we describe 10 families and define eligibility criteria to consider this type of inherited disease, as well as propose a practicable approach for diagnosis. In contrast to what the frequently used term 'Medullary Cystic Kidney Disease' implies, development of (medullary) cysts is neither an early nor a typical feature, as determined by MRI. In addition to Sanger and gene panel sequencing of the four genes, we established SNaPshot minisequencing for the predescribed cytosine duplication within a distinct repeat region of MUC1 causing a frameshift. A mutation was found in 7 of 9 families (3 in UMOD and 4 in MUC1), with one indeterminate (UMOD p.T62P). On the basis of clinical and pathological characteristics we propose the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' as an improved terminology. This should enhance recognition and correct diagnosis of affected individuals, facilitate genetic counseling, and stimulate research into the underlying pathophysiology.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>France</li></country><region><li>Bade-Wurtemberg</li><li>Bavière</li><li>District de Fribourg-en-Brisgau</li><li>District de Moyenne-Franconie</li><li>Île-de-France</li></region><settlement><li>Erlangen</li><li>Fribourg-en-Brisgau</li><li>Paris</li></settlement><orgName><li>Université Paris-Descartes</li></orgName></list><tree><country name="Allemagne"><region name="Bavière"><name sortKey="Ekici, Arif B" sort="Ekici, Arif B" uniqKey="Ekici A" first="Arif B" last="Ekici">Arif B. Ekici</name></region><name sortKey="Amann, Kerstin" sort="Amann, Kerstin" uniqKey="Amann K" first="Kerstin" last="Amann">Kerstin Amann</name><name sortKey="Beck, Bodo B" sort="Beck, Bodo B" uniqKey="Beck B" first="Bodo B" last="Beck">Bodo B. Beck</name><name sortKey="Buettner, Maike" sort="Buettner, Maike" uniqKey="Buettner M" first="Maike" last="Buettner">Maike Buettner</name><name sortKey="Eckardt, Kai Uwe" sort="Eckardt, Kai Uwe" uniqKey="Eckardt K" first="Kai-Uwe" last="Eckardt">Kai-Uwe Eckardt</name><name sortKey="Grupp, Sina" sort="Grupp, Sina" uniqKey="Grupp S" first="Sina" last="Grupp">Sina Grupp</name><name sortKey="Hackenbeck, Thomas" sort="Hackenbeck, Thomas" uniqKey="Hackenbeck T" first="Thomas" last="Hackenbeck">Thomas Hackenbeck</name><name sortKey="Hermann, Ingo" sort="Hermann, Ingo" uniqKey="Hermann I" first="Ingo" last="Hermann">Ingo Hermann</name><name sortKey="Hornberger, Martin" sort="Hornberger, Martin" uniqKey="Hornberger M" first="Martin" last="Hornberger">Martin Hornberger</name><name sortKey="Huber, Tobias B" sort="Huber, Tobias B" uniqKey="Huber T" first="Tobias B" last="Huber">Tobias B. Huber</name><name sortKey="Janka, Rolf" sort="Janka, Rolf" uniqKey="Janka R" first="Rolf" last="Janka">Rolf Janka</name><name sortKey="Pannes, Andrea" sort="Pannes, Andrea" uniqKey="Pannes A" first="Andrea" last="Pannes">Andrea Pannes</name><name sortKey="Reis, Andre" sort="Reis, Andre" uniqKey="Reis A" first="André" last="Reis">André Reis</name><name sortKey="Soreth Rieke, Daniela" sort="Soreth Rieke, Daniela" uniqKey="Soreth Rieke D" first="Daniela" last="Soreth-Rieke">Daniela Soreth-Rieke</name><name sortKey="Uder, Michael" sort="Uder, Michael" uniqKey="Uder M" first="Michael" last="Uder">Michael Uder</name><name sortKey="Uebe, Steffen" sort="Uebe, Steffen" uniqKey="Uebe S" first="Steffen" last="Uebe">Steffen Uebe</name><name sortKey="Wiesener, Antje" sort="Wiesener, Antje" uniqKey="Wiesener A" first="Antje" last="Wiesener">Antje Wiesener</name><name sortKey="Wiesener, Michael S" sort="Wiesener, Michael S" uniqKey="Wiesener M" first="Michael S" last="Wiesener">Michael S. Wiesener</name></country><country name="France"><region name="Île-de-France"><name sortKey="Moriniere, Vincent" sort="Moriniere, Vincent" uniqKey="Moriniere V" first="Vincent" last="Morinière">Vincent Morinière</name></region><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name></country><country name="Australie"><noRegion><name sortKey="Isbel, Nikky" sort="Isbel, Nikky" uniqKey="Isbel N" first="Nikky" last="Isbel">Nikky Isbel</name></noRegion><name sortKey="Mangos, George" sort="Mangos, George" uniqKey="Mangos G" first="George" last="Mangos">George Mangos</name><name sortKey="Mcginn, Stella" sort="Mcginn, Stella" uniqKey="Mcginn S" first="Stella" last="Mcginn">Stella Mcginn</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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