A Case of Fabry Disease, Following Renal Biopsy for the Investigation of Proteinuria.
- Author:
Jae Uk OK
1
;
Ki Hyun CHOI
;
Jane OH
;
Kun Ho KWON
;
Dong Ho YANG
;
Kyung Soo KIM
;
Yong Hee LEE
Author Information
1. Division of Nephrology, Department of Internal Medicine, Pundang CHA Hospital, Pochon Joongmoon, Medical College, Sungnam, Korea. kskimmd@cha.ac.kr
- Publication Type:Case Report
- Keywords:
Fabry disease;
alpha-galactosidase;
Lamella inclusion bodies
- MeSH:
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*
- From:Korean Journal of Nephrology
2001;20(6):1053-1057
- CountryRepublic of Korea
- Language:Korean
-
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.
