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A molecular study of ABCB4 (MDR3) gene mutation in cholestatic disorders of infancy / Nevian Nabil Abbass ; Supervised Hanaa Mostafa Elkaraksy , Mona Elsaid Elraziky , Sahar Abdelatty Sharaf

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Nevian Nabil Abbass , 2019Description: 158 P. : charts , facsimiles ; 25cmOther title:
  • في أمراض الركود المرارى في الطفوله ABCB4 دراسة جزيئية عن تحور {uئآ٧ؤ}ين [Added title page title]
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Dissertation note: Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics Summary: Progressive familial intrahepatic cholestasis type 3 is caused by a genetic defect in the ABCB4 gene (also designated MDR3) located on chromosome 7. PFIC3 has wide variety of symptoms and usually progresses from chronic cholestasis with or without jaundice to portal hypertension and end stage liver disease. The aim of this study is to detect ABCB4 (MDR3) gene mutations as a cause of PFIC3 in infants with cholestasis.This cross sectional study was conducted at the Pediatric Hepatology Unit over a 3-year period from January 2013 till January 2016. Thirty cholestatic patients with high GGT with onset of symptoms in the first year of life were enrolled. All patients were subjected to full history and clinical examination. Laboratory tests were done in the form of complete blood count, liver function tests, alpha-1-antitrypsin level and TORCH screen when indicated. Abdominal ultrasound was done to all patients. All patients underwent liver biopsy and histopathology. Genetic sequencing was done to all patients with DNA extraction to be used for performing the PCR for ABCB4 gene study
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Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.28.Ph.D.2019.Ne.M (Browse shelf(Opens below)) Not for loan 01010110078604000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.28.Ph.D.2019.Ne.M (Browse shelf(Opens below)) 78604.CD Not for loan 01020110078604000

Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Progressive familial intrahepatic cholestasis type 3 is caused by a genetic defect in the ABCB4 gene (also designated MDR3) located on chromosome 7. PFIC3 has wide variety of symptoms and usually progresses from chronic cholestasis with or without jaundice to portal hypertension and end stage liver disease. The aim of this study is to detect ABCB4 (MDR3) gene mutations as a cause of PFIC3 in infants with cholestasis.This cross sectional study was conducted at the Pediatric Hepatology Unit over a 3-year period from January 2013 till January 2016. Thirty cholestatic patients with high GGT with onset of symptoms in the first year of life were enrolled. All patients were subjected to full history and clinical examination. Laboratory tests were done in the form of complete blood count, liver function tests, alpha-1-antitrypsin level and TORCH screen when indicated. Abdominal ultrasound was done to all patients. All patients underwent liver biopsy and histopathology. Genetic sequencing was done to all patients with DNA extraction to be used for performing the PCR for ABCB4 gene study

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