Child Kidney Dis.
2015 Apr;19(1):23-30. 10.3339/chikd.2015.19.1.23.
Nephronophthisis
- Affiliations
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- 1Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. cheonghi@snu.ac.kr
- KMID: 2134410
- DOI: http://doi.org/10.3339/chikd.2015.19.1.23
Abstract
- NPHP is the most common monogenic cause of CKD in children or adolescents. Extra-renal symptoms often accompany, therefore examination of retina, hearing, and skeleton is necessary in patients with CKD with insidious onset. Genes involved in NPHP-RC are mostly related in primary cilia. While genetic diagnosis is necessary for definitive diagnosis, there is no curative treatment.
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