کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6224806 1607477 2012 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System
چکیده انگلیسی

ObjectiveTo assess the diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) by using high-resolution melting (HRM) analysis and a clinical scoring system.Study designGenetic variations in the 18 coding exons were prescreened using HRM analysis and then confirmed by direct sequencing. To establish a scoring system, clinical features of 20 patients with NICCD diagnosed in Taiwan between the years 2000 and 2008 were compared with those of 47 patients with biliary atresia and 35 with infantile cholestasis.ResultsEight types of mutations/polymorphisms were identified in patients with NICCD, including 5 mutations in the coding region or splice site (c.851del4, c.1638ins23, R553Q, IVS6+5G > A, IVS11+1G > A), and 3 single-nucleotide polymorphisms (IVS11+17C > G, IVS4+6A > G/rs6957975, and c.1194A > G/rs2301629). The 3 hotspot mutations (c.851del4, c.1638ins23, and IVS6+5G > A) comprised 33/35 (94.3%) mutated alleles. The patients with NICCD had a higher frequency of the rs6957975 polymorphism compared with 103 healthy controls (P < .0001). A 6-point scoring system was proposed according to clinical parameters. The patients with NICCD tended to score ≥4 points, whereas biliary atresia and other infantile cholestasis tended to score <4 points (P < .0001).ConclusionsHRM analysis was efficient and effective in detecting mutations. Three common mutations comprised the majority of mutations found in our patients. The IVS4+6A > G polymorphism was associated with NICCD. A scoring system may help to differentiate patients with NICCD from those with biliary atresia.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The Journal of Pediatrics - Volume 161, Issue 4, October 2012, Pages 626-631.e2
نویسندگان
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