Childhood Kidney Diseases

  • 제19권1호
  • /
  • Pages.23-30
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  • 2015
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  • 2384-0242(pISSN)
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  • 2384-0250(eISSN)
대한소아신장학회 (Korean Society of Pediatric Nephrology)
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Nephronophthisis

  • Kang, Hee Gyung (Department of Pediatrics Seoul National University Children's Hospital) ;
  • Cheong, Hae Il (Department of Pediatrics Seoul National University Children's Hospital)
  • 투고 : 2015.04.18
  • 심사 : 2015.04.25
  • 발행 : 2015.04.30
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초록

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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참고문헌

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