Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An atypical case of Fabry's disease, a rare congenital disorder of glyco-lipid metabolism, associated with sigmoid cancer was reported. A 50-year-old man who had been diagnosed as having atypical form of Fabry's disease complained of lower abdominal pain and difficult defection. A barium enema and an endoscopic examination disclosed sigmoid colon cancer. The cancer was curatively resected. Fabry's disease is often associated with intestinal disease, but the patient with Fabry's disease associated with intestinal malignancy has not been reported.
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PMID:[A case report of atypical Fabry's disease with colon cancer]. 836 76

Fabry's disease is a congenital disorder of glycosphingolipid metabolism with an X-linked recessive inheritance, presenting with typical symptoms of pain crises, acroparesthesias, cutaneous and mucosal angiokeratomas, hypohidrosis, heart and kidney lesions, and other symptoms, which are described below. From 2001, this disease is one of inborn errors of metabolism in which enzyme replacement therapy is applied very effectively. Two atypical forms of the disease were discovered, and the first surveys were done revealing that the incidence of Fabry's disease can be much more higher than it was considered before. Not only pediatricians can encounter with these patients in their practice, but also family doctors, nephrologists, cardiologists, neurologists, and physicians of other specialties. A clinical case of Fabry's disease is described, and actual issues of diagnostics and treatment of Fabry's disease are discussed. In spite of very typical symptoms, delayed diagnosis was made: after the first investigation of alpha-galactosidase A activity in dry blood sample, diagnosis of Fabry's disease was rejected; only after lysosomal enzyme activity assay in heparinized blood leukocytes, this diagnosis was confirmed.
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PMID:[Fabry's disease: a clinical case and literature review]. 1755 Dec 92