Document Detail


A case of Fabry's disease.
MedLine Citation:
PMID:  6310828     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A case of Fabry's disease in a 22-year-old male patient who had mild proteinuria and dark-red eruptions is reported. He had been treated as a case of a so-called "chronic glomerulonephritis" for one year. However, histopathological findings of the renal biopsy specimens showed the presence of numerous vacuolated cells in the glomeruli. These vacuolated cells contained numerous electron dense bodies observed by electron microscopy. Skin lesions of this patient were consistent with those of angiokeratoma corporis. The levels of serum alpha-galactosidase were significantly lower than those of healthy controls. The mother of this patient also showed decreased levels of serum alpha-galactosidase. The pedigree of this patient showed a familial history of various types of renal diseases. It was postulated that Fabry's disease occurring in older patients has a worse clinical course. it is concluded that early detection of this disease through biopsy and the assay of serum alpha-galactosidase levels is important in managing the future course of patients with Fabry's disease.
Authors:
M Miura; Y Tomino; W Inoue; M Endoh; T Suga; H Kaneshige; Y Nomoto; H Sakai; I Matsuo; H Nagura; N Ikeda
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Tokai journal of experimental and clinical medicine     Volume:  8     ISSN:  0385-0005     ISO Abbreviation:  Tokai J. Exp. Clin. Med.     Publication Date:  1983 Jan 
Date Detail:
Created Date:  1983-10-08     Completed Date:  1983-10-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7704186     Medline TA:  Tokai J Exp Clin Med     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  23-9     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Fabry Disease / complications,  pathology*
Humans
Kidney / pathology
Male
Skin / pathology
alpha-Galactosidase / blood
Chemical
Reg. No./Substance:
EC 3.2.1.22/alpha-Galactosidase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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