Lecenje steroidima

A 15-day-old male newborn with suspected cholestasis due to alpha-1-antitrypsin (AAT) deficiency was admitted to gastroenterology ward of the Pediatrics Department. Biochemistry tests (total and direct bilirubin, AST, ALT, GGT, ALP, 5'-NU, bile acids, ATT, alpha-fetoprotein, total cholesterol, LDL and HDL cholesterol, triglycerides, CRP, IgG, IgA and IgM immunoglobulins in serum, free fatty acids in breast milk, chlorides in sweat), hematology tests (erythrocyte sedimentation rate, differential blood count) and coagulation tests (bleeding time, clotting time, PT and fibrinogen) were determined. Increased values were found for total, direct and indirect bilirubin (, and µmol/L, respectively) and bile acids ( µmol/L). Due to the increased concentration of indirect bilirubin, genotyping for Gilbert's syndrome was performed in the infant and parents, with no mutation detected. The activity of GGT (171 U/L) and concentrations of total cholesterol ( mmol/L), LDL cholesterol ( mmol/L) and triglycerides ( mmol/L) were also increased. Free fatty acid concentration in breast milk was extremely increased. In addition, AAT concentration was decreased ( g/L). Other laboratory tests were normal. Abdominal ultrasound excluded existence of inborn malformation of the gallbladder and bile ducts but hepatobiliary scintigraphy (HIDA) identified complete intrahepatic cholestasis. Due to decreased AAT concentration, AAT phenotype and genotype testing of the infant and his parents was performed to reveal the boy to have PiZZ, the mother PiSZ and the father PiMZ phenotype (M being wild type, S and Z mutated alleles). Results were confirmed by genotyping. Taking all these into account, the diagnosis of intrahepatic cholestasis associated with AAT deficiency was made. The infant was readmitted to the gastroenterology ward at the age of 4 months. Signs of cholestasis did not disappear in spite of therapy (ursodiol, phenobarbitone, vitamins E and D3). The concentrations of total, direct and indirect bilirubin (, and µmol/L, respectively), bile acids (151 µmol/L) and enzyme activities (AST 153, ALT 159, GGT 1790, ALP 1010 and 5'-NU

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