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
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.
