Clinical characterization and nphp1 mutations in nephronophthisis and associated ciliopathies : a single center experience
Joint Authors
Hildebrandt, Friedhelm
Otto, Edgar A.
Nabhan, Marwah M.
Allen, Susan J.
Badr, Ahmad
Shiba, Maha
Fiddah, Sawsan
Jawdat, Ghadah
al-Kiki, Hassan
Sulayman, Nifin A.
Source
Saudi Journal of Kidney Diseases and Transplantation
Issue
Vol. 23, Issue 5 (31 Oct. 2012), pp.1090-1098, 9 p.
Publisher
Saudi Center for Organ Transplantation
Publication Date
2012-10-31
Country of Publication
Saudi Arabia
No. of Pages
9
Main Subjects
Topics
Abstract EN
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 an indeed be responsible for JSRD.
American Psychological Association (APA)
Sulayman, Nifin A.& Hildebrandt, Friedhelm& Otto, Edgar A.& Nabhan, Marwah M.& Allen, Susan J.& Badr, Ahmad…[et al.]. 2012. Clinical characterization and nphp1 mutations in nephronophthisis and associated ciliopathies : a single center experience. Saudi Journal of Kidney Diseases and Transplantation،Vol. 23, no. 5, pp.1090-1098.
https://search.emarefa.net/detail/BIM-311811
Modern Language Association (MLA)
Otto, Edgar A.…[et al.]. Clinical characterization and nphp1 mutations in nephronophthisis and associated ciliopathies : a single center experience. Saudi Journal of Kidney Diseases and Transplantation Vol. 23, no. 5 (Oct. 2012), pp.1090-1098.
https://search.emarefa.net/detail/BIM-311811
American Medical Association (AMA)
Sulayman, Nifin A.& Hildebrandt, Friedhelm& Otto, Edgar A.& Nabhan, Marwah M.& Allen, Susan J.& Badr, Ahmad…[et al.]. Clinical characterization and nphp1 mutations in nephronophthisis and associated ciliopathies : a single center experience. Saudi Journal of Kidney Diseases and Transplantation. 2012. Vol. 23, no. 5, pp.1090-1098.
https://search.emarefa.net/detail/BIM-311811
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 1097-1098
Record ID
BIM-311811