Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.
Leuk Res
; 34(8): 1012-7, 2010 Aug.
Article
em En
| MEDLINE
| ID: mdl-20197201
ABSTRACT
Homozygous W374X mutation was identified in unrelated 13 patients (6M/7F) from consanguineous families, 62% of which had history of deceased sibling. Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (median 2 months). Hepatic dysfunction was observed in 69%, ascite 62%, hypertriglyceridemia 77%, each hyperferritinemia and hypofibrinogenemia 85%, CNS involvement 46% of patients while birth weights were in normal range. Those with very high ferritin (>20,000ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Linfo-Histiocitose Hemofagocítica
/
Mutação
Tipo de estudo:
Guideline
/
Prognostic_studies
Limite:
Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article