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| Authors: | Ashraf Bakr Soheir Yehia Doaa El-Ghannam Ayman Hammad Mohamed Ragab Amr Sarhan Fatma Al-Husseni Zakaria Al-Morsy |
| Affiliation: | (1) Department of Biological Sciences, University of Cyprus, Kallipoleos 75, 1678 Nicosia, Cyprus;(2) Department of Pediatric Nephrology, Agia Sophia Children’s Hospital, Athens, Greece;(3) First Pediatric Clinic, Hippokration Hospital, Aristotle University of Thessaloniki, Thessalonika, Greece;(4) Department of Nephrology, Aristotle University of Thessaloniki, Thessalonika, Greece;(5) Department of Pediatrics, Archbishop Makarios III Hospital, Nicosia, Cyprus;(6) Hippokration Private Hospital, Nicosia, Cyprus;(7) The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus |
| Abstract: | Objective To uncover the frequency and the spectrum of NPHS2 mutations in Egyptian children with non familial steroid-resistant nephrotic syndrome (SRNS). Methods Sixteen patients were screened by PCR-single-strand conformation polymorphism analysis of NPHS2 gene followed by direct sequencing. Results NPHS2 mutations were evident in four patients (25%) who were bearing four novel mutations including two frame shift mutations (R238fs and P45fs) and two missense mutations (I136L and F216Y). There were no phenotypic or histological characteristics of patients bearing NPHS2 mutations, apart from the earlier onset of the disease, compared to those who were not bearing mutations. Conclusion NPHS2 mutations are prevalent in Egyptian children with non-familial SRNS and this may in part explain the less favorable prognosis reported in these patients. |
| Keywords: | Egyptian children Nephrotic syndrome Non familial NPHS2 mutations Steroid resistant |
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