Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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Two Cases of $Senior-L\ddot{o}ken$ Syndrome in Siblings

남매에서 발견 된 $Senior-L\ddot{o}ken$ 증후군 2례

  • Choi, Jung-Youn (Department of Pediatrics, College of Medicine Yeungnam University) ;
  • Kim, Yong-Jin (Department of Pathology, College of Medicine Yeungnam University) ;
  • Park, Yong-Hoon (Department of Pediatrics, College of Medicine Yeungnam University)
  • 최정연 (영남대학교 의과대학 소아과학교실) ;
  • 김용진 (영남대학교 의과대학 해부병리학교실) ;
  • 박용훈 (영남대학교 의과대학 소아과학교실)
  • Published : 2007.04.30
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Abstract

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 $Senior-L\ddot{o}ken$ syndrome. We experienced 2 cases of $Senior-L\ddot{o}ken$ syndrome that occurred in siblings(a 10 year-old boy and a 14-year-old girl) who were diagnosed with Leber's amaurosis. They were found to have severe renal impairment without polydipsia and polyuria. However, no large homogenous deletion of the NPHPI(2q13) gene was not identified in these patients. We report here on these cases and we review the literature to emphasize the association between Leber's amaurosis and the development of chronic renal failure.

저자들은 Leber의 선청성 흑암시를 진단받은 남매에서 성장 부전, 다음, 다뇨 및 야뇨증의 병력 없이 소아기에 만성 신부전으로 진행된 사춘기 콩팥 황폐증을 경험하여 우리나라에서는 드문 $Senior-L\ddot{o}ken$ 증후군을 보고하는 바이다.

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