A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.

Autori:	T Miyazawa, M Nakano, Y Takemura, K Miyazaki, H Yanagida, S Fujita, K Sugimoto, M Okada, T Takemura
Lingua:	Eng.
Data:	2009-12-03
Giornale:	Clinical nephrology (0301-0430)
Release:	Clin Nephrol. 2009 Dec;72(6):497-500
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).
Copyright:	Clinical nephrology Department of Pediatrics, Kinki University School of Medicine, Osaka 589-8511, Japan
Full text:	DOI - Clinical nephrology (DOI) Dustri-Verlag Dr. Karl Feistle GmbH - HTML (ha bisogno dell'abbonamento) EBSCO - HTML (ha bisogno dell'abbonamento)
Oggetto:	Abnormalities, Multiple, Coloboma, DNA, DNA Mutational Analysis, Humans, Kidney, Male, Mental Retardation, Mutation, Optic Disk, PAX2 Transcription Factor, Syndrome, Young Adult