RESUMO
OBJECTIVE: We attempted to determine the role of alpha-1-antitrypsin (AAT) deficient variants as an etiologic factor for chronic liver disease in North Indian children. DESIGN: This study investigated 1700 children (682 retrospectively and 1018 prospectively) (840 CLD, 410 neonatal cholestasis and 450 without liver disease) for AAT deficiency. SETTING: Tertiary referral center, All India Institute of Medical Sciences, New Delhi. PATIENTS: Of 1250 liver disease patients, 98 (7.8%) were suspected to be AAT deficient on the basis of screening tests (low serum AAT levels and/or absent/faint alpha-1-globulin band on serum agarose electrophoresis and/or diastase resistant PAS positive granules on liver biopsy). MAIN OUTCOME MEASURES: AAT deficient Z or S allele in suspected patients. RESULTS: Z or S allele was not observed on phenotyping (1700 subjects), or with PCR-RFLP, SSCP and sequencing done in 50 of 98 suspected AAT deficient patients. A novel mutation G-to-A at position 333 in exon V was found in two siblings having positive immunohistochemistry for AAT on liver biopsy, both of whom had significant liver disease with portal hypertension. CONCLUSION: In conclusion, AAT deficiency as an etiologic factor for chronic liver disease in childhood appeared to be uncommon in North India.
Assuntos
Hepatopatias/epidemiologia , Deficiência de alfa 1-Antitripsina/epidemiologia , Adolescente , Criança , Pré-Escolar , Colestase/sangue , Colestase/epidemiologia , Colestase/genética , Doença Crônica , Feminino , Humanos , Índia/epidemiologia , Lactente , Recém-Nascido , Doenças do Recém-Nascido , Hepatopatias/sangue , Hepatopatias/genética , Masculino , Estudos Prospectivos , Estudos Retrospectivos , alfa 1-Antitripsina/sangue , alfa 1-Antitripsina/genética , Deficiência de alfa 1-Antitripsina/sangue , Deficiência de alfa 1-Antitripsina/genéticaRESUMO
This was a cross-sectional study to determine the profile of pancreatic disorders in 54 children (age <15 years) presenting to a tertiary care center in India. Acute pancreatitis was the most common pancreatic disorder (28/54, 52%). Twenty-three children (43%) were diagnosed to have either chronic calcific (n = 15, 28%) or chronic non-calcific (n = 8, 15%) pancreatitis. Specific etiologic factors could be identified in 64.3% (18/28) of acute pancreatitis and 43.5% (10/23) of chronic pancreatitis patients. At least some of the 13 children with idiopathic chronic pancreatitis had features suggestive of tropical pancreatitis.
