A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.
Clin Nephrol
; 72(6): 497-500, 2009 Dec.
Article
em En
| MEDLINE
| ID: mdl-19954729
ABSTRACT
A case of an adolescent male with renal-coloboma syndrome (RCS) showing developmental delay is described. Birth and perinatal histories were typical. Proteinuria was initially observed at the age of 7 years during an annual mass screening program for school children. His urine was checked periodically at a local hospital. Because of an increase in proteinuria, he was referred to our hospital for further clinical evaluation. Proteinuria was moderate, ranging from 1.0 to 1.5 g/day, and was coupled with mild renal dysfunction. At that time, he was found to have myopia associated with astigmatism. He exhibited mild developmental delay, assessed by a WISC-III test. A renal biopsy sample showed marked glomerular enlargement, collapse of glomerular capillaries, mesangial matrix expansion, and tubulointerstitial change, demonstrating typical histologic features of RCS. Approximately five years after starting follow-up, the patient had severe renal dysfunction. Furthermore, optic nerve coloboma was also evident. Genetic analysis of the patient revealed a novel heterozygous mutation in exon 3 of the PAX2 gene (P130H).
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Disco Óptico
/
DNA
/
Coloboma
/
Fator de Transcrição PAX2
/
Rim
/
Deficiência Intelectual
/
Mutação
Tipo de estudo:
Clinical_trials
/
Diagnostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Clin Nephrol
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Japão