NPHS2 gene mutation screening in Palestinian children with steroid-resistant nephrotic syndrome

العناوين الأخرى

الكشف عن طفرات في جين NPHS2 لدى الأطفال الفلسطينيين المصابين بمتلازمة الكلائية المقاومة لعلاج الستيرويد

مقدم أطروحة جامعية

Dayf Allah, Ata Jabir Muhammad

مشرف أطروحة جامعية

al-Sharif, Fadl Akram

الجامعة

الجامعة الإسلامية

الكلية

كلية العلوم

القسم الأكاديمي

قسم العلوم الحياتية

دولة الجامعة

فلسطين (قطاع غزة)

الدرجة العلمية

ماجستير

تاريخ الدرجة العلمية

2017

الملخص الإنجليزي

Background: Nephrotic syndrome (NS), an uncommon childhood disorder, is characterized by edema, massive proteinuria, hypoalbuminemia, hyperlipidemia, and may progress to end stage renal disease.

Based on the response to steroid therapy, NS is divided into steroid-sensitive (SSNS) and steroid-resistant (SRNS).

SRNS is where the patient does not respond to prednisone treatment.

SRNS inherited, as an autosomal recessive disorder with NPHS2 being the most frequently mutated gene.

NPHS2 gene encodes podocin protein, which has an important role in glomerular ultrafiltration and controlling slit membrane permeability.

Objective: The spectrum and frequency of NPHS2 mutations in the Palestinian population have not been explored before.

The aim of this study is to screen 20 SRNS Palestinian patients for NPHS2 mutations and to compare our findings with those reported in other populations.

Methods: Twenty SRNS patients were recruited from the Ranteesy pediatric hospital.

All the eight exons of the NPHS2 gene were PCR-amplified from patients genomic DNA using appropriate primers.

Direct sequencing of the purified PCR fragments was then ensued by automated Sanger sequencing method.

Nucleotide changes were verified by comparing obtained sequences with the reference gene sequence stored in the NCBI database.

Results: Analysis of the obtained sequences identified previously known mutations in 3 (15%) of the patients.

Two of the mutations, G130K and R229Q were missense mutations and the third, R138X was a nonsense mutation.

All mutations were present in homozygous form.

Conclusions: The current study reports the identification of G130K, R138X, and R229Q NPHS2 mutation in SRNS patients in Gaza-Palestinian.

The mutations thus identified would spare patients from the unnecessary and harmful immunosuppressive steroids and help physicians and patients' families take proper decisions regarding patient management and their future offspring.

التخصصات الرئيسية

الأحياء

عدد الصفحات

48

قائمة المحتويات

• APA
• MLA
• AMA

لغة النص

الإنجليزية

نوع البيانات

رسائل جامعية

رقم السجل

BIM-900705