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Published on: December 2, 2014
A family with five siblings affected with nephronophthisis
Jumana Albaramki1, Kamal Akl, Radi Hamed
1Department of Pediatrics, Jordan University Hospital, Amman, Jordan.
Abstract:
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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