Article
A family with five siblings affected with nephronophthisis.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia - 1 May 2014
Albaramki Jumana, Akl Kamal, Hamed Radi, Wahbeh Ayman
Abstract excerpt
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...
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