J Korean Soc Pediatr Nephrol.
2007 Apr;11(1):112-117.
Two Cases of Senior-Loken Syndrome in Siblings
- Affiliations
-
- 1Department of Pediatrics, College of Medicine Yeungnam University, Daegu, Korea. yhpark@med.yu.ac.kr
- 2Department of Pathology, College of Medicine Yeungnam University, Daegu, Korea.
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-Loken syndrome. We experienced 2 cases of Senior-Loken 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 NPHP1(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.
