METHOD FOR EXAMINATION OF CHILDREN WITH SUSPECTED PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC) Russian patent published in 2017 - IPC G01N33/48 G01N29/06 

FIELD: medicine.

SUBSTANCE: invention can be used for early diagnosis of progressive familial intrahepatic cholestasis (PFIC) in children. The method for examination of children with suspected progressive familial intrahepatic cholestasis (PFIC) includes an algorithm that considers the threat of pregnancy interruption in the anamnesis in the mother and children of the first three months of life, the combination of hepatomegaly with a long icteric period and defecation achiolia/hypocholia, and addition of symptoms such as itchy skin in children over 6 months. When detecting these changes, a biochemical blood test is performed. And with the detection of characteristic changes in clinical and laboratory indicators, ultrasound examination of the abdominal cavity organs is carried out, and when characteristic changes are detected, determination of bile secretion is carried out by hepatobiliary scintigraphy. At that, if delayed time of maximum accumulation (Tmax) of radiopharmaceutical (RP) accumulation in hepatocytes, complete absence of RP half-life (T1/2) and time of RP entering the intestine (Tkish) are detected, a molecular genetic study is conducted to find mutations in ART8B1 and ABCB11 genes.

EFFECT: early diagnosis of the disease.

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