[Pearson's syndrome: a multi-system disorder based on a mt-DNA deletion]. / Het syndroom van Pearson: een multisystem disorder gebaseerd op een mt-DNA-deletie.
Tijdschr Kindergeneeskd
; 59(6): 196-202, 1991 Dec.
Article
em Nl
| MEDLINE
| ID: mdl-1776144
ABSTRACT
In 1979 Pearson described a syndrome, in which the main symptoms were severe sideroblastic anemia and exocrine pancreas dysfunction. The aetiology was still unknown. A decade later, the Pearson syndrome can be described as a lethal multisystem disorder, in which the bone marrow and exocrine pancreas show major dysfunction, but also other organs (like kidneys, liver, gut and skin) can be affected. These patients also show growth retardation. The study of the mitochondrial DNA allowed identification of a deletion in the mitochondrial DNA. The case of a patient suffering from Pearson's syndrome is reported.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deleção Cromossômica
/
Anemia Sideroblástica
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Infant
Idioma:
Nl
Revista:
Tijdschr Kindergeneeskd
Ano de publicação:
1991
Tipo de documento:
Article