Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One-hundred-and-ten children between the ages of two months and 14 years with the following liver diseases were studied: 16 with acute viral hepatitis, 8 with persistent chronic hepatitis, 31 with active chronic hepatitis, 5 with hepatic steatosis, 11 with cirrhosis of the liver, 24 with newborn cholestasis, 3 with Wilson's disease, 2 with congenital hepatic fibrosis, 5 with metabolic diseases and 5 due to other causes. These children presented Pi system phenotypes in isoelectric focus using ultrafine polyacrylamide gels according to Kuepper's method, with modifications incorporated to determine Alpha-1-antitrypsin (A1-AT) serum level deficiencies in those presenting the Pi ZZ phenotype, a liver biopsy with P.A.S. coloration on digestion of diastase and a family history of the phenotype. Four (3.6%) of the children with Pi ZZ phenotypes showed a decrease of serum A1-AT and the presence of positive P.A.S. inclusions resistant to diastase in the cytoplasm of hepatocytes. Three had a history of postnatal icterus and the fourth presented hepatomegaly. The phenotypic study of the parents showed their being heterozygous (MZ), while siblings were normal (MM). The importance of the diagnosis of A1-AT deficiency and the diagnostic value of detecting Pi system phenotypes in every case of liver disease in children and adolescents is stressed.
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PMID:[The value of the Pi system phenotype in alpha 1-antitrypsin deficiency]. 349 88

Alpha-1-antitrypsin is a blood glycoprotein synthesized in the liver. It is a protease inhibitor of the serpine group and has a specific action for elastase. Alpha-1-antitrypsin electrophoresis shows about 20 phenotypes, the normal one being PiM. The allele PiZ is usually responsible for liver or lung disease in children or adults, respectively. Eleven per cent of PiZZ infants present with prolonged neonatal cholestasis. Twenty-five of 45 PiZZ infants with prolonged neonatal cholestasis presented with later cirrhosis. Persistence of jaundice beyond the sixth month of age, early development of splenomegaly, persistence of hard hepatomegaly and liver function abnormalities, and early portal fibrosis have a poor prognostic significance. The most severe course occurs in infants with an early histologic pattern of paucity of interlobular bile ducts. Portal hypertension was present in 19 of 25 children presenting with cirrhosis; 8 of 25 PiZZ children with cirrhosis died during childhood.
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PMID:[Alpha 1-antitrypsin deficiency in childhood]. 387 73

Alpha-1-antitrypsin (AAT) deficiency is a rare genetic disorder characterized by hepatitis in neonates, childhood and adulthood (protease inhibitor (PI)*ZZ) and emphysema with or without hepatitis (PI*ZZ)/(PI*SS,SZ or null) in adulthood. We report the case of a female neonate born at 40 weeks of gestation who presented with vitamin K deficiency-related intracranial bleeding and cholestasis of which she died at 28 days of age. At autopsy, the infant was found to have intracranial bleeding, hepatomegaly, and cholestasis with paucity of bile ducts in the liver. Small periodic acid-Schiff diastase positive intrahepatic granules and positive staining with antibodies against AAT protein suggested an AAT deficiency. AAT is a glycoprotein that has a protease inhibitor function. Its deficiency can be the result of various point mutations in Serpin 1 located on chromosome 14. The diagnosis AAT deficiency was confirmed by mutation analysis showing the PI*ZZ genotype in the neonate. In conclusion, AAT deficiency is a rare genetic disorder that can lead to a serious bleeding disorder in the neonatal period if not recognised on time. Pathological diagnosis together with verifying molecular analysis can be used to identify index patients.
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PMID:Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death. 2081 7