A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and is classified into two types: classical and variant. The classical type exhibits classic manifestations, but the variant type does not and is therefore difficult to identify sometimes. A 73-year-o...

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Detalles Bibliográficos
Autores principales: Onishi, Rina, Kanaoka, Koshiro, Sugiura, Junichi, Tokunaga, Motoko, Takemoto, Yasuhiro, Onoue, Kenji, Yamamoto, Yuta, Horii, Manabu, Saito, Yoshihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306526/
https://www.ncbi.nlm.nih.gov/pubmed/29984754
http://dx.doi.org/10.2169/internalmedicine.1177-18
Descripción
Sumario:Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and is classified into two types: classical and variant. The classical type exhibits classic manifestations, but the variant type does not and is therefore difficult to identify sometimes. A 73-year-old woman with a first episode of heart failure was admitted to our hospital. Her left ventricular wall motion was mildly reduced without hypertrophy. Urine sediment revealed mulberry cells, leading to the diagnosis of Fabry disease. In cases without typical clinical findings, urinary mulberry cells may help diagnose Fabry disease.

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