A Case of Renal Transplantation in A Patient with Fabry's Disease.
- Author:
Won KIM
1
;
Hyeon Woo KOH
;
Sung Kwang PARK
;
Sung Kyew KANG
;
Seung Ryel RHEE
;
Hee Chul YU
;
Baik Hwan CHO
;
Min Chul KIM
;
Kwang Young LEE
Author Information
1. Department of General Surgery, Chonbuk National University Medical School, Korea.
- Publication Type:Case Report
- Keywords:
Transplantation;
Fabry's disease
- MeSH:
Adult;
alpha-Galactosidase;
Biopsy;
Fabry Disease*;
Galactosidases;
Humans;
Inclusion Bodies;
Kidney Transplantation*;
Korea;
Lysosomes;
Male;
Metabolism;
Microscopy, Electron;
Myocytes, Smooth Muscle;
Neutral Glycosphingolipids;
Transplantation
- From:The Journal of the Korean Society for Transplantation
1998;12(1):111-116
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Fabry's disease is a rare, inborn error, sex-linked disorder of glycosphingolipid metabolism with death occurring from myocardial or renal involvement at 4th or 5th decades. The primary metabolic defect lies in the deficient tissue activity of the enzyme alpha-galactosidase A which results in progressive accumulation of the specific neutral glycosphingolipids, cerebroside dihexoside(CDH) and cerebroside triihexoside(CTH), within the lysosomes of endothelial, perithelial and smooth muscle cells of the cardiovascular and renal systems predominantly. Clinical manifestations are sequelae of the anatomic and physiologic alterations produced by the progressive deposition of glycosphingolipid in the tissues. We report the first case of successful renal transplantation in a patient with Fabry's disease in Korea. The patient was a 33-year-old male. Fabry's disease was confirmed by measurement of serum alpha- galactosidase level and renal biopsy. Biopsy finding showed lamellar inclusion bodies on electron microscopy. Galactosidase activity was also markedly decreased. He has been well for 49 months.
