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KMID : 0811820070110010112
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Journal of Korean Society of Pediatric Nephrology
2007 Volume.11 No. 1 p.112 ~ p.117
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Two Cases of Senior-Loken Syndrome in Siblings
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Choi Jung-Yun
Park Yong-Hoon
Kim Yong-Jin
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Abstract
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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-Lo..ken syndrome. We experienced 2 cases of Senior-Lo..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.
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KEYWORD
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Juvenile nephronophthisis, amaurosis, Senior-Loken syndrome
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