RESUMO
Alpha-1-antitrypsin deficiency (AATD) is a rare genetic metabolic disease,characterized by a lack of alpha-1-antitrypsin,which can lead to chronic lung and liver disease.The lung disease is thought to be caused primarily by a lack of effective protection against the harmful effects of elastase due to the low AAT levels in the lung.Patients may also develop liver disease due to polymerisation of AAT within hepatocytes.Measuring the AAT serum level,AAT protein phenotyping,and SERPINA1 allele genotyping can help to diagnose AATD.The prognosis of AATD has been improved by AAT augmentation therapy in patients with lung disease,which can prevent or delay lung tissue destruction.
RESUMO
Objectives To study the clinical characteristics and early diagnosis of infant with both alpha 1 antitrypin deficiency (α1-ATD) and biliary atresia (BA). Methods The clinical characteristics, serum biochemical parameters, gene mutations and treatment of one infant with both α1-ATD and BA was reported. Related literatures about liver disease caused by α1-ATD were reviewed and analyzed. Results The infant was characterised with neonatal cholestasis, hepatomegaly, elevated serum ALT, AST, total bilirubin (TB), direct bilirubin (DB) and γ-glutamyltransferase (γ-GT) and absence of bile secretion from the duodenal drainage tube. BA was conifrmed by laparotomy and pathological examination and Kasai′s operation was performed. Further, the infant was confirmed by SERPINA 1 gene mutation analysis, which leads to the diagnosis of α1-ATD. The case of infant with both alpha 1 ATD and BA has not yet been reported at home and abroad. According to the literatures, children with α1-ATD were characterized with cholestasis, hepatomegaly, hypoproteinemia, high serum ALT and AST, coagulation disorders caused by vitamin K 1 deifciency and hepatic dysfunction. Prognosis was poor without early diagnosis and treatment. Conclusions For infant cholestasis, a lot of auxiliary examinations should be performed to identify the etiology of cholestasis. Gene analysis could help differential diagnosis. Prompt diagnosis and early treatment are the key to improve the survival rate and prognosis.
RESUMO
BACKGROUND: We conducted a case-control study to evaluate the potential association between SERPINA1 genotypes (M1Val, M1Ala, S, and Z) and the risk COPD. METHODS: The study population consisted of 93 patients with COPD and 112 healthy controls. The polymerase chain reaction and restriction fragment length polymorphism for detecting the SERPINA1 variants. RESULTS: The M2 allele of the SERPINA1 gene was significantly associated with the risk of COPD in Koreans. The effect of the M2 allele on the risk of COPD was more pronounced in the subgroup <64 years. CONCLUSION: These results suggest that SERPINA1 polymorphisms may contribute to a genetic predisposition for COPD. However, additional studies with larger sample sizes are required to confirm our findings.