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KMID : 1040420150190010023
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Childhood Kidney Diseases
2015 Volume.19 No. 1 p.23 ~ p.30
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Nephronophthisis
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Kang Hee-Gyung
Cheong Hae-Il
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Abstract
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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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KEYWORD
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Nephronophthisis, Chronic kidney disease, Genetic disease, Ciliopathy
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