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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2014  |  Volume : 25  |  Issue : 3  |  Page : 630-633
A family with five siblings affected with nephronophthisis


1 Department of Pediatrics, Jordan University Hospital, Amman, Jordan
2 Department of Pediatrics, The Hashemite University, Zarka, Jordan
3 Department of Medicine, Jordan University Hospital, Amman, Jordan

Correspondence Address:
Dr. Jumana Albaramki
Department of Pediatrics, Jordan University Hospital, Faculty of Medicine, Jordan University, P.O. Box 1459, Amman 11821
Jordan
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DOI: 10.4103/1319-2442.132218

PMID: 24821164

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Nephronophthisis is an autosomal recessive disease that leads to end-stage renal disease. These days, molecular genetic analysis is used pre-emptively for making a definitive diagnosis in patients who have clinical and radiological data suggestive of the disease. Herein, we are reporting a 12-year-old girl who was genetically diagnosed to have juvenile nephronophthisis, which explained the mystery of the chronic kidney disease in her four affected siblings.


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