Title of article
A family with five siblings affected with nephronophthisis
Author/Authors
Albaramki, Jumana Jordan University Hospital - Department of Pediatrics, Jordan , Akl, Kamal Jordan University Hospital - Department of Pediatrics, Jordan , Hamed, Radi Hashemite University - Department of Pediatrics, Jordan , Wahbeh, Ayman Jordan University Hospital - Department of Medicine, Jordan
From page
630
To page
633
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.
Journal title
Saudi Journal of Kidney Diseases and Transplantation
Journal title
Saudi Journal of Kidney Diseases and Transplantation
Record number
2678391
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