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)

The disease course is described in 21 patients with low serum concentrations of alpha1-antitrypsin of the phenotype Z (genotype pi ZZ). 13 of these patients have long-standing disease characterized by bronchitis or dyspnea beginning before the age of 40 and progressing to emphysema (11 patients) and to corpulmonale (7 patients). The remaining 8 patients are children with hepatopathy characterized by prolonged jaundice at birth, persistent hepatomegaly and persistently elevated liver enzymes. In 2 children, the evolution to cirrhosis was ascertained by biopsy.
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PMID:[Severe alpha 1-antitrypsin deficiency: clinical observations of 21 patients]. 31 May 77

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

Gross and histopathological changes were recorded in a pregnant cattle died of clinical anaplasmosis, a tick transmitted economically important disease caused by Anaplasma marginale. Grossly emaciated carcass along with pale visible mucous membranes and pale serosal surface, splenomegaly and hepatomegaly was observed. Microscopically, in lungs variable extend of interstitial pneumonia, emphysema along with infiltration of mononuclear cells was seen. Spleen showed extensive increase in red pulp area with massive proliferation of lymphocytes. In liver marked thickening of capsule with fatty changes along with retention of bile was seen. Gall bladder showed congestion, glandular hyperplasia and thickening wall. Myocardium showed degeneration and necrosis.
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PMID:Pathological observations on clinical Anaplasma marginale infection in cattle. 2634 59