An unusual case of familial lymphedema.
Identifieur interne : 002D59 ( Main/Exploration ); précédent : 002D58; suivant : 002D60An unusual case of familial lymphedema.
Auteurs : Steven M. Dean [États-Unis] ; Jean Starr [États-Unis]Source :
- Annals of vascular surgery [ 1615-5947 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
- diagnostic : Lymphoedème, Maladie de Fabry.
- génétique : Lymphoedème, Maladie de Fabry.
- Adulte d'âge moyen, Diagnostic différentiel, Humains, Membre inférieur, Mâle, Prédisposition génétique à une maladie.
English descriptors
- KwdEn :
- MESH :
- diagnosis : Fabry Disease, Lymphedema.
- genetics : Fabry Disease, Lymphedema.
- Diagnosis, Differential, Genetic Predisposition to Disease, Humans, Lower Extremity, Male, Middle Aged.
Abstract
A 47-year-old man with stable stage II chronic kidney disease and episodic diarrhea presented with chronic, progressive bilateral lower extremity lymphedema. His mother and 2 brothers had similar acral swelling. Thus, a diagnosis of typical primary familial lymphedema was suspected. Approximately 1 year later, progressive azotemia and proteinuria ensued. A renal biopsy suggested Fabry disease, which was confirmed by enzymatic and genetic testing. In addition, Fabry disease was diagnosed in his mother and 2 male siblings with lower extremity lymphedema. As this case illustrates, Fabry disease is an underappreciated and often unrecognized cause of familial lymphedema.
DOI: 10.1016/j.avsg.2013.09.009
PubMed: 24333525
Affiliations:
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Le document en format XML
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Dean</name><affiliation wicri:level="2"><nlm:affiliation>Division of Cardiovascular Medicine, The Ohio State University Wexner Medical Center, Columbus, OH. Electronic address: steven.dean@osumc.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Division of Cardiovascular Medicine, The Ohio State University Wexner Medical Center, Columbus</wicri:cityArea></affiliation></author><author><name sortKey="Starr, Jean" sort="Starr, Jean" uniqKey="Starr J" first="Jean" last="Starr">Jean Starr</name><affiliation wicri:level="2"><nlm:affiliation>Division of Vascular Diseases and Surgery, The Ohio State University Wexner Medical Center, Columbus, OH.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Division of Vascular Diseases and Surgery, The Ohio State University Wexner Medical Center, Columbus</wicri:cityArea></affiliation></author></analytic><series><title level="j">Annals of vascular surgery</title><idno type="eISSN">1615-5947</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Diagnosis, Differential</term><term>Fabry Disease (diagnosis)</term><term>Fabry Disease (genetics)</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Lower Extremity</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Diagnostic différentiel</term><term>Humains</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Maladie de Fabry (diagnostic)</term><term>Maladie de Fabry (génétique)</term><term>Membre inférieur</term><term>Mâle</term><term>Prédisposition génétique à une maladie</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Fabry Disease</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Lymphoedème</term><term>Maladie de Fabry</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Fabry Disease</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term><term>Maladie de Fabry</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Diagnosis, Differential</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Lower Extremity</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Diagnostic différentiel</term><term>Humains</term><term>Membre inférieur</term><term>Mâle</term><term>Prédisposition génétique à une maladie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A 47-year-old man with stable stage II chronic kidney disease and episodic diarrhea presented with chronic, progressive bilateral lower extremity lymphedema. His mother and 2 brothers had similar acral swelling. Thus, a diagnosis of typical primary familial lymphedema was suspected. Approximately 1 year later, progressive azotemia and proteinuria ensued. A renal biopsy suggested Fabry disease, which was confirmed by enzymatic and genetic testing. In addition, Fabry disease was diagnosed in his mother and 2 male siblings with lower extremity lymphedema. As this case illustrates, Fabry disease is an underappreciated and often unrecognized cause of familial lymphedema.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Ohio</li></region></list><tree><country name="États-Unis"><region name="Ohio"><name sortKey="Dean, Steven M" sort="Dean, Steven M" uniqKey="Dean S" first="Steven M" last="Dean">Steven M. Dean</name></region><name sortKey="Starr, Jean" sort="Starr, Jean" uniqKey="Starr J" first="Jean" last="Starr">Jean Starr</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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