Korean J Nephrol.  2001 Nov;20(6):1053-1057.

A Case of Fabry Disease, Following Renal Biopsy for the Investigation of Proteinuria

• Ok JU
• Choi KH
• Oh J
• Kwon KH
• Yang DH
• Kim KS
• Lee YH

Abstract

Fabry disease, angiokeratoma corporis diffusum, is a rare X-linked inborn error of glycosphingolipid metabolism due to the lack of the lysosomal enzyme, alpha-galactosidase A, resulting in a progressive deposition of specific neutral glycosphingolipids within the lysosomes of endothelial and smooth muscle cells of the cardiovascular and renal systems predominantly. We reported a case of Fabry disease, following renal biopsy for the investigation of proteinuria(Creatinine clearance 87.28 mL/min/1.73, serum creatinine 1.1 mg/dL, 24-hour urine protein 1,125 mg, 24-hour urine creatinine 1,382 mg). The patient was 46 year old male. He had experienced anterior chest pain regarded as angina pectoris for a few years. A 12- lead electrocardiogram was abnormal(T-wave inversion in II, III, AVF, and V3-V6), but echocardiography and coronary angiography revealed no abnormal. Kidney biopsy findings showed lamella inclusion bodies on electron microscopy, which are typical finding of Fabry disease. The patient is followed at O.P.D without any significant complaints for 18 months after diagnosis of Fabry disease.

Keyword

Fabry disease; alpha-galactosidase; Lamella inclusion bodies

MeSH Terms

alpha-Galactosidase
Angina Pectoris
Biopsy*
Chest Pain
Coronary Angiography
Creatinine
Diagnosis
Echocardiography
Electrocardiography
Fabry Disease*
Humans
Inclusion Bodies
Kidney
Lysosomes
Male
Metabolism
Microscopy, Electron
Middle Aged
Myocytes, Smooth Muscle
Neutral Glycosphingolipids
Proteinuria*
Creatinine
Neutral Glycosphingolipids
alpha-Galactosidase