Childhood Kidney Diseases
- 제11권1호
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- Pages.112-117
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- 2007
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- 2384-0242(pISSN)
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- 2384-0250(eISSN)
남매에서 발견 된 $Senior-L\ddot{o}ken$ 증후군 2례
Two Cases of $Senior-L\ddot{o}ken$ Syndrome in Siblings
- Choi, Jung-Youn (Department of Pediatrics, College of Medicine Yeungnam University) ;
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Kim, Yong-Jin
(Department of Pathology, College of Medicine Yeungnam University) ;
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Park, Yong-Hoon
(Department of Pediatrics, College of Medicine Yeungnam University)
- 발행 : 2007.04.30
초록
저자들은 Leber의 선청성 흑암시를 진단받은 남매에서 성장 부전, 다음, 다뇨 및 야뇨증의 병력 없이 소아기에 만성 신부전으로 진행된 사춘기 콩팥 황폐증을 경험하여 우리나라에서는 드문
Although juvenile nephronophthisis(NPHP) is one of the most frequent genetic causes of chronic renal failure, it has very rarely been reported in Korean children. Most NPHP patients are found to have chronic renal failure, since there are no distinct clinical symptoms for NPHP except polydipsia, polyuria and enuresis in the early stage of disease. Ten percent of NPHP patients manifest retinitis pigmentosa, called