Nephropathic cystinosis: first reported case in Oman
SQUMJ-Sultan Qaboos University Medical Journal. 2011; 11 (4): 503-506
em Inglês
| IMEMR
| ID: emr-117408
ABSTRACT
Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations. There are three types of cystinosis, infantile nephropathic cystinosis being the most severe form. In this report we present the classic clinical features of nephropathic cystinosis in an Omani child. This condition remains quite rare in the Middle East and is the first reported case of nephropathic cystinosis in the Omani population
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Doenças por Armazenamento dos Lisossomos
/
Síndrome de Fanconi
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Sultan Qaboos Univ. Med. J.
Ano de publicação:
2011
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