Nephronophthisis.
10.3339/chikd.2015.19.1.23
- Author:
Hee Gyung KANG
1
;
Hae Il CHEONG
Author Information
1. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. cheonghi@snu.ac.kr
- Publication Type:Review
- Keywords:
Nephronophthisis;
Chronic kidney disease;
Genetic disease;
Ciliopathy
- MeSH:
Adolescent;
Child;
Cilia;
Diagnosis;
Hearing;
Humans;
Renal Insufficiency, Chronic;
Retina;
Skeleton
- From:Childhood Kidney Diseases
2015;19(1):23-30
- CountryRepublic of Korea
- Language:English
-
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.
