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Saudi Journal of Kidney Diseases and Transplantation
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Year : 2012  |  Volume : 23  |  Issue : 5  |  Page : 1090-1098
Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: A single center experience


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
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DOI: 10.4103/1319-2442.100968

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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.


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