Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034067 (emphysema)
 11,506 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alpha-1-antitrypsin deficiency (AATD) was diagnosed in a girl aged two months and a boy aged 18 days with neonatal cholestasis syndrome and vitamin K deficiency-induced bleeding, including intracerebral bleeding. The differential diagnosis of neonatal cholestasis syndrome takes time, and treatable causes should be recognised as soon as possible. AATD is the most common hereditary cause of neonatal cholestasis syndrome. This autosomal recessive disorder is also associated with adult pulmonary emphysema. Diagnosis is simply made by determining the proteinase inhibitor (PI) phenotype with isoelectric focusing. No effective treatment is available. For patients with persistent liver disease liver transplantation may be necessary.
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PMID:[Two infants with bleeding caused by alpha-1-antitrypsin deficiency]. 2035 27

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