PREVALENCE OF ALPHA-1 ANTITRYPSIN DEFICIENCY IN CHILDREN WITH CHRONIC LIVER DISEASE & INFANTS WITH NEONATAL CHOLESTASIS SYNDROME
R Khanna*, MA Malik**, R Sherwani***, Moinuddin****
Department of Pediatrics, Jawaharlal Nehru Medical College, Aligarh*, Department of Pediatrics, Jawaharlal Nehru Medical College, Aligarh**, Department of Pathology, Jawaharlal Nehru Medical College, Aligarh***, Department of Pediatrics, Jawaharlal Nehru Medical College, Aligarh****
Aim: To study the prevalence of alpha-1 antitrypsin deficiency in children with chronic liver disease and infants with neonatal cholestasis syndrome.

Materials and Methods: Children with clinical features of liver dysfunction or cirrhosis of more than 3 months duration, supported by laboratory parameters, or of less than 3 months duration supported by histological evidence of chronic liver injury, were taken as chronic liver disease cases; and infants with conjugated hyperbilirubinemia persisting beyond 14 days of life were taken as neonatal cholestasis syndrome cases. Patients characteristics were noted and complete diagnostic work-up, as far as possible for the liver disease was done in all of them. For the diagnosis of alpha-1 AT deficiency, phenotyping was done by isoelectric focusing of plasma in all cases and Periodic acid Schiff positive diastase resistant globules in the periportal hepatocytes were looked for in the liver tissue in cases where biopsy was done.

Observations: Study group included 58 cases, 35 with chronic liver disease and 23 with neonatal cholestasis syndrome. Overall, there was male predominance (44:11). Chronic liver disease cases presented between 7-144 months of age with bimodal distribution in 1-3 years and 6-12 years age groups, with prolonged fever in 29 (82.9%), jaundice in 20 (57.1%), hepatomegaly in 22 (62.9%), splenomegaly in 28 (80.0%), ascites in 22 (62.9%), malnutrition in 19 (54.3%), encephalopathy in 5 (14.3%) and features of vitamins A, D and K deficiencies in around half of them. Seven (20.0%) of them had history of jaundice in the family or sib loss. Laboratory parameters showed deranged transaminases in 25 (71.4%), hypoproteinemia in 11 (33.3%) and prolonged prothrombin time in 24 (68.6%) cases. Five *14.3%) cases were seropositive for hepatitis viruses B and C. Kayser Fleischerring, on slit-lamp examination, was absent in all of them. Neonatal cholestasis syndrome cases presented at a mean age of 2.4 + 1.6 months with jaundice noticed first at 18 + 25 days and a mean delay in presentation of 52.1 + 51.8 days. There was malnutrition in 11 (47.8%), hepatomegaly in 18 (78.3%), splenomegaly in 19 (82.6%), encephalopathy in 8 (34.8%), clinical or subclinical bleeds in 14 (60.9%), deranged transaminases in 20 (87.0%) and hypoproteinemia in 7 (38.9%) cases. One-third of the infants had acholic stools and 10 (43.5%) cases had significant family history. Three (13.0%) were seropositive for hepatitis B and C viruses and 2 were TORCH positive. Periodic acid Schiff positive diastase resistant globules were absent in all of the 22 chronic liver disease cases and 12 neonatal cholestasis syndrome cases, who had undergone biopsy. The alpha-1 AT phenotype as determined by isoelectric focusing of plasma was PiMM in 57 cases and a normal variant Pim1EM1E in one chronic liver disease case.

Conclusion: The deficiency phenotype was found in one of them indicating the prevalence to be zero in the study group.
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