Childhood Kidney Diseases  2015;19(1):23-30

doi:10.3339/chikd.2015.19.1.23

Nephronophthisis.

Hee Gyung KANG 1 ; Hae Il CHEONG

Affiliations

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Keywords

Nephronophthisis; Chronic kidney disease; Genetic disease; Ciliopathy

Country

Republic 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.