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Features of early diagnosis of progressive familial intrahepatic cholestasis (PFIC)


DOI: http://dx.doi.org/10.18821/1560-9561-2016-19-6-332-338

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Abstract

Progressive familial intrahepatic cholestasis (PFIC) is a rare form of hereditary diseases of the liver, which develops at an early age due to defects in bile secretion, constantly progresses and promotes the formation of liver fibrosis and cirrhosis. 3 types of PFIC are distinguished: in PFIC types I, II the secretion of bile salts deteriorates, whereas in PFIC type III the excretion of phospholipids is altered. Under observation there were 20 children with PFIC types I, II. Hepato- or hepatosplenomegaly was noticed in the first 3 months of life in 19 patients. The main clinical manifestations were a combination of cholestatic hepatitis, jaundice and itching. The activity of gamma-glutamyl transpeptidase did not alter in patients with PFIC types I, II but significantly increased in patients with PFIC type III. According to data of hepatobiliary scintigraphy with Tc-bromezid in examined patients Tmax was 26.8 ± 2.5 min, and T1/2 and Tinst were not determined that indicates to the absence of elimination of labeled bile from the liver sinusoids in ductules, large bile ducts and intestine. At the molecular genetic examination of patients in APT8B1 and ABCB11 genes there were revealed mutations in the homozygous state. Due to the high risk of developing of liver cancer in patients with PFIC type II the implementation of monitoring from an early age is recommended.


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For citation: Volynets G.V., Namazova-Baranova L.S., Potapov A.S., Gevorkyan A.K., Smirnov I.E., Nikitin A.V., Skvortsova T.A. Features of early diagnosis of progressive familial intrahepatic cholestasis (PFIC). Rossiyskiy Pediatricheskiy Zhurnal (Russian Pediatric Journal). 2016; 19(6): 332-338. (In Russian). DOI: http://dx.doi.org/10.18821/1560-9561-2016-19-6-332-338

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