Saudi Journal of Kidney Diseases and Transplantation

RENAL DATA FROM THE ARAB WORLD
Year
: 2012  |  Volume : 23  |  Issue : 5  |  Page : 1090--1098

Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: A single center experience


Neveen A Soliman1, Friedhelm Hildebrandt2, Edgar A Otto2, Marwa M Nabhan1, Susan J Allen2, Ahmed M Badr1, Maha Sheba3, Sawsan Fadda4, Ghada Gawdat5, Hassan El-Kiky6 
1 Department of Pediatrics, Kasr Al Ainy School of Medicine; Center of Pediatric Nephrology and Transplantation, Cairo University; Egyptian Group for Orphan Renal Diseases, Cairo, Egypt
2 Department of Pediatrics, University of Michigan, Howard Hughes Medical Institute, Michigan, USA
3 Department of Pediatrics, Cairo University, Cairo, Egypt
4 Department of Pathology, Cairo University, Cairo, Egypt
5 Department of Pediatric Ophthalmology, Cairo University, Cairo, Egypt
6 Department of Radiology, Cairo University, Cairo, Egypt

Correspondence Address:
Neveen A Soliman
Department of Pediatrics, Kasr Al Ainy School of Medicine, Cairo University Center of Pediatric Nephrology and Transplantation, Cairo University, Egyptian Group for Orphan Renal Diseases, Cairo
Egypt

Nephronophthisis (NPHP) is a recessive disorder of the kidney that is the leading genetic cause of end-stage renal failure in children. Egypt is a country with a high rate of consan­guineous marriages; yet, only a few studies have investigated the clinical and molecular charac­teristics of NPHP and related ciliopathies in the Egyptian population. We studied 20 children, from 17 independent families, fulfilling the clinical and the ultrasonographic criteria of NPHP. Analysis for a homozygous deletion of the NPHP1 gene was performed by polymerase chain reaction on the genomic DNA of all patients. Patients were best categorized as 75% juvenile NPHP, 5% infantile NPHP, and 20% Joubert syndrome-related disorders (JSRD). The mean age at diagnosis was 87.5 + 45.4 months, which was significantly late as compared with the age at onset of symptoms, 43.8 ± 29.7 months (P <0.01). Homozygous NPHP1 deletions were detected in six patients from five of 17 (29.4%) studied families. Our study demonstrates the clinical phenotype of NPHP and related disorders in Egyptian children. Also, we report that homozygous NPHP1 deletions account for 29.4% of NPHP in the studied families in this cohort, thereby confirming the diagnosis of type-1 NPHP. Moreover, our findings confirm that NPHP1 deletions can indeed be responsible for JSRD.


How to cite this article:
Soliman NA, Hildebrandt F, Otto EA, Nabhan MM, Allen SJ, Badr AM, Sheba M, Fadda S, Gawdat G, El-Kiky H. Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: A single center experience.Saudi J Kidney Dis Transpl 2012;23:1090-1098


How to cite this URL:
Soliman NA, Hildebrandt F, Otto EA, Nabhan MM, Allen SJ, Badr AM, Sheba M, Fadda S, Gawdat G, El-Kiky H. Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: A single center experience. Saudi J Kidney Dis Transpl [serial online] 2012 [cited 2020 Jul 10 ];23:1090-1098
Available from: http://www.sjkdt.org/article.asp?issn=1319-2442;year=2012;volume=23;issue=5;spage=1090;epage=1098;aulast=Soliman;type=0