A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells
نویسندگان
چکیده
Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A. This disease is classified into two types, namely a classical and variant type. We herein present the case of a 36-year-old man who showed a renal variant of Fabry disease and was diagnosed at an early stage by the presence of mulberry cells. He had no history of general symptoms except for proteinuria. The presence of mulberry cells caused us to suspect Fabry disease and he was thereafter diagnosed to have a renal variant of Fabry disease based on the findings of a renal biopsy, a mutation analysis and a low level of α-galactosidase A activity.
منابع مشابه
Fabry Disease Diagnosed Based on the Detection of Urinary Mulberry Bodies
A 42-year-old Japanese man visited our nephrology department after proteinuria without hematuria was detected in a medical checkup. A physical examination showed no abnormalities. His renal function was normal (serum creatinine concentration: 0.65 mg/dL). The urinary analysis at the first visit revealed fat bodies with a whorl-like appearance; socalled mulberry bodies (Picture 1). These bodies ...
متن کاملFabry dissase from the dentist view
Fabry disease is a rare, inherited disease with lack of the enzyme alpha-galactosidase A (α-Gal) in the cells of the body that participates in the breakdown of fat. The disease begins in early childhood, progresses slowly throughout life and results in severe damage of the kidneys, heart and central nervous system. The disease is life-threatening and if left untreated, death ...
متن کاملبیماری آندرسون ـ فابری: گزارش یک مورد
Anderson-Fabry which is also known as Fabry disease is an X-linked recessive enzyme deficiency disorder. Its clinical manifestations are caused by storage of sphingolipids in the lysosomes of the endothelial, perithelial, and smooth muscle cells, which is due to alpha galactosidase A enzyme deficiency. Its hallmark dermatological manifestation is diffuse angiokeratomas known as ...
متن کاملCoexistant of Fabry Disease and IgA Glomerulonephritis in a 39 year old male
Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. Hereby we report a 39 year old male that presented with proteinuria and edema. Histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor of Fabry disease in associate with IgA nephropathy. Fabry's disease associated ...
متن کاملA case of rapid progression of Fabry nephropathy with remarkable glomerulomegaly: a case report and mini literature review of weak response to enzyme replacement therapy (ERT)
Background: Fabry disease is a rare X-linked hereditary disorder (Xq22) caused by a deficiency in alphagalactosidase (α-GAL) activity. This enzyme deficit results in the systemic accumulation of glycophospholipids, leading to multi-organ failure including the heart, kidneys, and brain. Enzyme replacement therapy (ERT) improves the prognosis of patients with Fabry disease. We describe a case sho...
متن کامل