Two Cases of Senior-Löken Syndrome in Siblings

Choi, Jung-Youn; Kim, Yong-Jin; Park, Yong-Hoon

doi:2007.11.1.112

J Korean Soc Pediatr Nephrol > Volume 11(1); 2007 > Article

J Korean Soc Pediatr Nephrol 2007;11(1): 112-117. doi: https://doi.org/10.3339/jkspn.2007.11.1.112

남매에서 발견 된 Senior-Löken 증후군 2례

최정연, 김용진, 박용훈

¹영남대학교 의과대학 소아과학교실
²영남대학교 의과대학 해부병리학교실
³영남대학교 의과대학 소아과학교실

Two Cases of Senior-Löken Syndrome in Siblings

Jung-Youn Choi, Yong-Jin Kim, Yong-Hoon Park

¹Department of Pediatrics, College of Medicine Yeungnam University
²Department of Pathology, College of Medicine Yeungnam University
³Department of Pediatrics, College of Medicine Yeungnam University

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-Löken syndrome. We experienced 2 cases of Senior-Löken 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.

Key words: Juvenile nephronophthisis | amaurosis | Senior-Löken syndrome