کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4129883 1606477 2015 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Liver pathology in severe multidrug resistant 3 protein deficiency: a series of 10 pediatric cases
ترجمه فارسی عنوان
پاتولوژی کبد در کمبود پروتئین مقاوم به چند داروی شدید: مجموعه ای از 10 مورد اطفال
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی آسیب‌شناسی و فناوری پزشکی
چکیده انگلیسی
Multidrug resistance protein 3 (MDR3) is a hepatocyte canalicular membrane protein encoded by the ABCB4/MDR3 gene located on chromosome 7. Several liver diseases are known to be associated with MDR3 deficiency. The basic defect is reduced secretion of biliary phospholipid causing disturbance in the primary bile composition, leading to injury to biliary epithelium inducing cell death and inflammation. Severe MDR3 deficiency typically presents during the first year of life or early childhood, often progressing to chronic liver disease with cirrhosis and portal hypertension, requiring liver transplantation. Negative MDR3 immunostaining is suggestive of MDR3 deficiency. Herein, we report the clinical and histopathologic features of 10 cases (6 male/4 female) in infants and children with severe MDR3 deficiency (age range of 8 months to 7 years) diagnosed with negative MDR3 immunostaining in hepatic canaliculi. Three cases underwent liver transplantation. The cases showed periportal bridging fibrosis to micronodular cirrhosis, ductular proliferation with bile plugs, and lobular canalicular bile stasis with rosetting. All 3 explant livers demonstrated cystically dilated large ducts with crystallization of cholesterol. One case showed well-differentiated hepatocellular carcinoma. We conclude that MDR3 immunostaining on formalin-fixed and paraffin-embedded sections is a useful tool to diagnose severe MDR3 deficiency in pediatric liver cholestatic disease cases where genetic testing is not available.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Annals of Diagnostic Pathology - Volume 19, Issue 5, October 2015, Pages 277-282
نویسندگان
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