Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease
Identifieur interne : 002B36 ( Main/Exploration ); précédent : 002B35; suivant : 002B37Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease
Auteurs : Annalisa Sechi [Italie] ; Andrea Dardis [Italie] ; Stefania Zampieri [Italie] ; Claudio Rabacchi [Italie] ; Paolo Zanoni [Italie] ; Sebastiano Calandra [Italie] ; Giovanna De Maglio [Italie] ; Stefano Pizzolitto [Italie] ; Valerio Maruotti [Italie] ; Antonio Di Muzio [Italie] ; Frances Platt [Royaume-Uni] ; Bruno Bembi [Italie]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2014.
Descripteurs français
- KwdFr :
- 1-Désoxynojirimycine (analogues et dérivés), 1-Désoxynojirimycine (usage thérapeutique), Adulte d'âge moyen, Femelle, Humains, Maladie de Tangier (diagnostic), Maladie de Tangier (génétique), Maladie de Tangier (traitement médicamenteux), Résultat thérapeutique, Transporteur-1 à cassette liant l'ATP (génétique).
- MESH :
- analogues et dérivés : 1-Désoxynojirimycine.
- diagnostic : Maladie de Tangier.
- génétique : Maladie de Tangier, Transporteur-1 à cassette liant l'ATP.
- traitement médicamenteux : Maladie de Tangier.
- usage thérapeutique : 1-Désoxynojirimycine.
- Adulte d'âge moyen, Femelle, Humains, Résultat thérapeutique.
English descriptors
- KwdEn :
- MESH :
- chemical , analogs & derivatives : 1-Deoxynojirimycin.
- chemical , genetics : ATP Binding Cassette Transporter 1.
- chemical , therapeutic use : 1-Deoxynojirimycin.
- diagnosis : Tangier Disease.
- drug therapy : Tangier Disease.
- genetics : Tangier Disease.
- Female, Humans, Middle Aged, Treatment Outcome.
Abstract
Tangier disease (TD) is a rare autosomal recessive disorder, resulting from mutations in the ATP binding cassette transporter (ABCA1) gene. The deficiency of ABCA1 protein impairs high density lipoprotein (HDL) synthesis and cholesterol esters trafficking.
A 58 year-old female, presenting with complex clinical signs (splenomegaly, dysarthria, dysphagia, ataxia, tongue enlargement, prurigo nodularis, legs lymphedema, pancytopenia and bone marrow foam cells), was misdiagnosed as Niemann-Pick C (NPC) and treated with miglustat (300 mg/day), normalizing neurological symptoms and improving skin lesions and legs lymphedema. Subsequently filipin-staining and molecular analysis for NPC genes were negative. Lipid profiling showed severe deficiency of HDL, 2 mg/dl (n.v. 45-65) and apoAI, 5.19 mg/dl (n.v. 110-170), suggesting TD as a probable diagnosis. Molecular analysis of
These results suggest miglustat as a possible therapeutic approach in this untreatable disease. The mechanisms by which miglustat ameliorates at least some clinical manifestations of TD needs to be further investigated.
The online version of this article (doi:10.1186/s13023-014-0143-3) contains supplementary material, which is available to authorized users.
Url:
DOI: 10.1186/s13023-014-0143-3
PubMed: 25227739
PubMed Central: 4172812
Affiliations:
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Udine</wicri:regionArea><wicri:noRegion>Udine</wicri:noRegion></affiliation></author><author><name sortKey="Dardis, Andrea" sort="Dardis, Andrea" uniqKey="Dardis A" first="Andrea" last="Dardis">Andrea Dardis</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine</wicri:regionArea><wicri:noRegion>Udine</wicri:noRegion></affiliation></author><author><name sortKey="Zampieri, Stefania" sort="Zampieri, Stefania" uniqKey="Zampieri S" first="Stefania" last="Zampieri">Stefania Zampieri</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine</wicri:regionArea><wicri:noRegion>Udine</wicri:noRegion></affiliation></author><author><name sortKey="Rabacchi, Claudio" sort="Rabacchi, Claudio" uniqKey="Rabacchi C" first="Claudio" last="Rabacchi">Claudio Rabacchi</name><affiliation wicri:level="1"><nlm:aff id="Aff2">Department of Biomedical; Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Biomedical; Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena</wicri:regionArea><wicri:noRegion>Modena</wicri:noRegion></affiliation></author><author><name sortKey="Zanoni, Paolo" sort="Zanoni, Paolo" uniqKey="Zanoni P" first="Paolo" last="Zanoni">Paolo Zanoni</name><affiliation wicri:level="1"><nlm:aff id="Aff2">Department of Biomedical; Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Biomedical; Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena</wicri:regionArea><wicri:noRegion>Modena</wicri:noRegion></affiliation></author><author><name sortKey="Calandra, Sebastiano" sort="Calandra, Sebastiano" uniqKey="Calandra S" first="Sebastiano" last="Calandra">Sebastiano Calandra</name><affiliation wicri:level="1"><nlm:aff id="Aff2">Department of Biomedical; Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Biomedical; Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena</wicri:regionArea><wicri:noRegion>Modena</wicri:noRegion></affiliation></author><author><name sortKey="De Maglio, Giovanna" sort="De Maglio, Giovanna" uniqKey="De Maglio G" first="Giovanna" last="De Maglio">Giovanna De Maglio</name><affiliation wicri:level="1"><nlm:aff id="Aff3">Department of Pathology, University-Hospital Santa Maria della Misericordia, Udine, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pathology, University-Hospital Santa Maria della Misericordia, Udine</wicri:regionArea><wicri:noRegion>Udine</wicri:noRegion></affiliation></author><author><name sortKey="Pizzolitto, Stefano" sort="Pizzolitto, Stefano" uniqKey="Pizzolitto S" first="Stefano" last="Pizzolitto">Stefano Pizzolitto</name><affiliation wicri:level="1"><nlm:aff id="Aff3">Department of Pathology, University-Hospital Santa Maria della Misericordia, Udine, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pathology, University-Hospital Santa Maria della Misericordia, Udine</wicri:regionArea><wicri:noRegion>Udine</wicri:noRegion></affiliation></author><author><name sortKey="Maruotti, Valerio" sort="Maruotti, Valerio" uniqKey="Maruotti V" first="Valerio" last="Maruotti">Valerio Maruotti</name><affiliation wicri:level="1"><nlm:aff id="Aff4">Centre for Neuromuscular Diseases, University G. d’Annunzio, Chieti, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Centre for Neuromuscular Diseases, University G. d’Annunzio, Chieti</wicri:regionArea><wicri:noRegion>Chieti</wicri:noRegion></affiliation></author><author><name sortKey="Di Muzio, Antonio" sort="Di Muzio, Antonio" uniqKey="Di Muzio A" first="Antonio" last="Di Muzio">Antonio Di Muzio</name><affiliation wicri:level="1"><nlm:aff id="Aff4">Centre for Neuromuscular Diseases, University G. d’Annunzio, Chieti, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Centre for Neuromuscular Diseases, University G. d’Annunzio, Chieti</wicri:regionArea><wicri:noRegion>Chieti</wicri:noRegion></affiliation></author><author><name sortKey="Platt, Frances" sort="Platt, Frances" uniqKey="Platt F" first="Frances" last="Platt">Frances Platt</name><affiliation wicri:level="4"><nlm:aff id="Aff5">Department of Pharmacology, University of Oxford, Oxford, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Pharmacology, University of Oxford, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region><settlement type="city">Oxford</settlement></placeName><orgName type="university">Université d'Oxford</orgName></affiliation></author><author><name sortKey="Bembi, Bruno" sort="Bembi, Bruno" uniqKey="Bembi B" first="Bruno" last="Bembi">Bruno Bembi</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine</wicri:regionArea><wicri:noRegion>Udine</wicri:noRegion></affiliation></author></analytic><series><title level="j">Orphanet Journal of Rare Diseases</title><idno type="eISSN">1750-1172</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>1-Deoxynojirimycin (analogs & derivatives)</term><term>1-Deoxynojirimycin (therapeutic use)</term><term>ATP Binding Cassette Transporter 1 (genetics)</term><term>Female</term><term>Humans</term><term>Middle Aged</term><term>Tangier Disease (diagnosis)</term><term>Tangier Disease (drug therapy)</term><term>Tangier Disease (genetics)</term><term>Treatment Outcome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>1-Désoxynojirimycine (analogues et dérivés)</term><term>1-Désoxynojirimycine (usage thérapeutique)</term><term>Adulte d'âge moyen</term><term>Femelle</term><term>Humains</term><term>Maladie de Tangier (diagnostic)</term><term>Maladie de Tangier (génétique)</term><term>Maladie de Tangier (traitement médicamenteux)</term><term>Résultat thérapeutique</term><term>Transporteur-1 à cassette liant l'ATP (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analogs & derivatives" xml:lang="en"><term>1-Deoxynojirimycin</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>ATP Binding Cassette Transporter 1</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>1-Deoxynojirimycin</term></keywords><keywords scheme="MESH" qualifier="analogues et dérivés" xml:lang="fr"><term>1-Désoxynojirimycine</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Tangier Disease</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Maladie de Tangier</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Tangier Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Tangier Disease</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Maladie de Tangier</term><term>Transporteur-1 à cassette liant l'ATP</term></keywords><keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Maladie de Tangier</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>1-Désoxynojirimycine</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Middle Aged</term><term>Treatment Outcome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Femelle</term><term>Humains</term><term>Résultat thérapeutique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Tangier disease (TD) is a rare autosomal recessive disorder, resulting from mutations in the ATP binding cassette transporter (ABCA1) gene. The deficiency of ABCA1 protein impairs high density lipoprotein (HDL) synthesis and cholesterol esters trafficking.</p></sec><sec><title>Case Report</title><p>A 58 year-old female, presenting with complex clinical signs (splenomegaly, dysarthria, dysphagia, ataxia, tongue enlargement, prurigo nodularis, legs lymphedema, pancytopenia and bone marrow foam cells), was misdiagnosed as Niemann-Pick C (NPC) and treated with miglustat (300 mg/day), normalizing neurological symptoms and improving skin lesions and legs lymphedema. Subsequently filipin-staining and molecular analysis for NPC genes were negative. Lipid profiling showed severe deficiency of HDL, 2 mg/dl (n.v. 45-65) and apoAI, 5.19 mg/dl (n.v. 110-170), suggesting TD as a probable diagnosis. Molecular analysis of <italic>ABCA1</italic> gene showed the presence of a novel homozygous deletion (c.4464-486_4698 + 382 Del). Miglustat treatment was then interrupted with worsening of some neurological signs (memory defects, slowing of thought processes) and skin lesions. Treatment was restarted after 7 months with neurological normalization and improvement of skin involvement.</p></sec><sec><title>Conclusions</title><p>These results suggest miglustat as a possible therapeutic approach in this untreatable disease. The mechanisms by which miglustat ameliorates at least some clinical manifestations of TD needs to be further investigated.</p></sec><sec><title>Electronic supplementary material</title><p>The online version of this article (doi:10.1186/s13023-014-0143-3) contains supplementary material, which is available to authorized users.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Assmann, G" uniqKey="Assmann G">G Assmann</name></author><author><name sortKey="Von Eckardstein, A" uniqKey="Von Eckardstein A">A Von Eckardstein</name></author><author><name sortKey="Brewer, Hb" uniqKey="Brewer H">HB Brewer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bodzioch, M" uniqKey="Bodzioch M">M Bodzioch</name></author><author><name sortKey="Ors, E" uniqKey="Ors E">E Orsó</name></author><author><name sortKey="Klucken, J" uniqKey="Klucken J">J Klucken</name></author><author><name sortKey="Langmann, T" uniqKey="Langmann T">T Langmann</name></author><author><name sortKey="Bottcher, A" uniqKey="Bottcher A">A Böttcher</name></author><author><name sortKey="Diederich, W" uniqKey="Diederich W">W Diederich</name></author><author><name sortKey="Drobnik, W" uniqKey="Drobnik W">W Drobnik</name></author><author><name sortKey="Barlage, S" uniqKey="Barlage S">S Barlage</name></author><author><name sortKey="Buchler, C" uniqKey="Buchler C">C Büchler</name></author><author><name sortKey="Porsch Ozcurumez, M" uniqKey="Porsch Ozcurumez M">M Porsch-Ozcürümez</name></author><author><name sortKey="Kaminski, We" uniqKey="Kaminski W">WE Kaminski</name></author><author><name sortKey="Hahmann, Hw" uniqKey="Hahmann H">HW Hahmann</name></author><author><name sortKey="Oette, K" uniqKey="Oette K">K Oette</name></author><author><name sortKey="Rothe, G" uniqKey="Rothe G">G Rothe</name></author><author><name sortKey="Aslanidis, C" uniqKey="Aslanidis C">C Aslanidis</name></author><author><name sortKey="Lackner, Kj" 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sortKey="Dardis, Andrea" sort="Dardis, Andrea" uniqKey="Dardis A" first="Andrea" last="Dardis">Andrea Dardis</name><name sortKey="De Maglio, Giovanna" sort="De Maglio, Giovanna" uniqKey="De Maglio G" first="Giovanna" last="De Maglio">Giovanna De Maglio</name><name sortKey="Di Muzio, Antonio" sort="Di Muzio, Antonio" uniqKey="Di Muzio A" first="Antonio" last="Di Muzio">Antonio Di Muzio</name><name sortKey="Maruotti, Valerio" sort="Maruotti, Valerio" uniqKey="Maruotti V" first="Valerio" last="Maruotti">Valerio Maruotti</name><name sortKey="Pizzolitto, Stefano" sort="Pizzolitto, Stefano" uniqKey="Pizzolitto S" first="Stefano" last="Pizzolitto">Stefano Pizzolitto</name><name sortKey="Rabacchi, Claudio" sort="Rabacchi, Claudio" uniqKey="Rabacchi C" first="Claudio" last="Rabacchi">Claudio Rabacchi</name><name sortKey="Zampieri, Stefania" sort="Zampieri, Stefania" uniqKey="Zampieri S" first="Stefania" last="Zampieri">Stefania Zampieri</name><name sortKey="Zanoni, Paolo" sort="Zanoni, Paolo" uniqKey="Zanoni P" first="Paolo" last="Zanoni">Paolo Zanoni</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Platt, Frances" sort="Platt, Frances" uniqKey="Platt F" first="Frances" last="Platt">Frances Platt</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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