선천백내장으로 수술한 형제에서 진단된 안, 뇌, 신 증후군 2예

• 영문명: Two Cases of Oculocerebrorenal Syndrome in Two Brothers Diagnosed after Congenital Cataract Surgery
• 발행기관: 대한안과학회
• 저자명: 석경원 이수정 김완수,Kyung Won Suk, M.D., Soo Jung Lee, M.D.,, Wan Soo Kim, M.D.,
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume47,number9, 1502~1511쪽, 전체 10쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2006.09.30

영문 초록

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.

키워드

Chromosome Xq25-26.1, Congenital cataracts, Oculocerebrorenal syndrome (OCRL)