Two Cases of Oculocerebrorenal Syndrome in Two Brothers Diagnosed after Congenital Cataract Surgery
Journal of the Korean Ophthalmological Society
; : 1502-1511, 2006.
Article
em Ko
| WPRIM
| ID: wpr-25886
Biblioteca responsável:
WPRO
ABSTRACT
PURPOSE: We report two cases of brothers diagnosed with oculocerebrorenal syndrome after binocular congenital cataract surgery. METHODS: Two brothers who had undergone surgeries for congenital cataracts showed growth retardation, proteinuria, and generalized tonic seizures. The patients were referred to the pediatrics department and evaluated for systemic diseases and genetic counseling. RESULTS: Two brothers had renal tubular dysfunction characterized by hypercalciuria and hyperphosphaturia. The older brother had multiple microcalcifications on both kidneys, and ischemic injury with general dysfunction of the brain. Genetic analysis of brothers and their mother showed a new mutation of P799L in the region of the chromosome Xq25-26.1 locus. The two brothers were diagnosed with oculocerebrorenal syndrome of Lowe (OCRL). CONCLUSIONS: In cases of patients with congenital cataracts, the evaluation of systemic disease including genetic abnormality should be considered whenever systemic symptoms such as growth retardation, proteinuria or seizure are found.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Pediatria
/
Proteinúria
/
Convulsões
/
Catarata
/
Encéfalo
/
Irmãos
/
Hipercalciúria
/
Telescópios
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Aconselhamento Genético
/
Hipofosfatemia Familiar
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
Ko
Revista:
Journal of the Korean Ophthalmological Society
Ano de publicação:
2006
Tipo de documento:
Article