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Titolo:
Initiation of enzyme replacement therapy for an adult patient with asymptomatic type 1 Gaucher's disease
Autore:
Tanaka, N; Saito, H; Ito, T; Momose, K; Ishida, F; Hora, K; Kiyosawa, K; Ida, H;
Indirizzi:
Shinshu Univ, Sch Med, Dept Internal Med 2, Matsumoto, Nagano 3908621, Japan Shinshu Univ Matsumoto Nagano Japan 3908621 sumoto, Nagano 3908621, Japan
Titolo Testata:
INTERNAL MEDICINE
fascicolo: 8, volume: 40, anno: 2001,
pagine: 716 - 721
SICI:
0918-2918(200108)40:8<716:IOERTF>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
ACID BETA-GLUCOSIDASE; JAPANESE PATIENTS; HUMAN GLUCOCEREBROSIDASE; MUTATIONS; GENE; IDENTIFICATION; INVOLVEMENT; EXPRESSION; DIAGNOSIS; RESPONSES;
Keywords:
1448C (L444P) mutation; bone involvement; MRI; enzyme replacement therapy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Tanaka, N Shinshu Univ, Sch Med, Dept Internal Med 2, 3-1-1 Asahi, Matsumoto, Nagano3908621, Japan Shinshu Univ 3-1-1 Asahi Matsumoto Nagano Japan 3908621 1, Japan
Citazione:
N. Tanaka et al., "Initiation of enzyme replacement therapy for an adult patient with asymptomatic type 1 Gaucher's disease", INTERN MED, 40(8), 2001, pp. 716-721

Abstract

A 27-year-old woman was admitted for further examination of thrombocytopenia. Symptoms were absent, but physical examination demonstrated hepatosplenomegaly without neurological abnormalities. Bone marrow examination revealed many Gaucher cells, and glucocerebrosidase activity from cultured skin fibroblasts was markedly reduced. A 1448C (L444P) mutation was detected on one allele of the glucocerebrosidase gene. Because magnetic resonance imaging(MRI) of the femora indicated severe infiltration of Gaucher cells into bone marrow, enzyme replacement therapy was initiated despite the absence of skeletal symptoms. Hematologic abnormalities, visceral and bone involvementhave been improving. In cases of thrombocytopenia or hepatosplenomegaly, Gaucher's disease should be suspected.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 14:10:27