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RMU

Uruguayan Medical Journal

ISSN: 1688-0390


Vol.22 - Nº 1 - Mar. 2006

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Three cases of type I Gaucher disease: clinics, diagnosis, molecular genetics and treatment

LEMES A; MURIEDA B; GABUS R; ROSELLI MJ; LARRANDABURU M; VAGLIO A
Rev Med Urug 2006; 22: 73-0
Full text (spanish) |  Full text (spanish) (New windows, pdf) | Abstract

Abstract

Type 1 Gaucher disease is an inherited autosomal recesive disorder, determined by a deficiency of the acid ß-glucosidase enzyme and macrophage lysosomal storage of glucosylceramide. Common symptoms are visceromegaly, bleeding, anemia and bone pain; there is no central ner.

vous system commitment.

It could appear in childhood or adulthood and might be asymptomatic. Many mutations have been detected. It has symptomatic and specific treatment.

The presentation includes three non-relative cases in which the disease appeared during adulthood; clinical, biochemical, molecular and treatment aspects are analyzed.

The importance of diagnosis is highlighted.