Saudi Journal of Kidney Diseases and Transplantation

CASE REPORT
Year
: 2014  |  Volume : 25  |  Issue : 3  |  Page : 630--633

A family with five siblings affected with nephronophthisis


Jumana Albaramki1, Kamal Akl1, Radi Hamed2, Ayman Wahbeh3 
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

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.


How to cite this article:
Albaramki J, Akl K, Hamed R, Wahbeh A. A family with five siblings affected with nephronophthisis.Saudi J Kidney Dis Transpl 2014;25:630-633


How to cite this URL:
Albaramki J, Akl K, Hamed R, Wahbeh A. A family with five siblings affected with nephronophthisis. Saudi J Kidney Dis Transpl [serial online] 2014 [cited 2021 Dec 8 ];25:630-633
Available from: https://www.sjkdt.org/article.asp?issn=1319-2442;year=2014;volume=25;issue=3;spage=630;epage=633;aulast=Albaramki;type=0