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Liver disease in children with pizz α 1 ‐antitrypsin deficiency
Author(s) -
Ghishan Fayez K.,
Greene Harry L.
Publication year - 1988
Publication title -
hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.488
H-Index - 361
eISSN - 1527-3350
pISSN - 0270-9139
DOI - 10.1002/hep.1840080220
Subject(s) - medicine , cholestasis , neonatal cholestasis , gastroenterology , cirrhosis , neonatal hepatitis , jaundice , liver biopsy , liver transplantation , liver disease , alpha 1 antitrypsin deficiency , liver function tests , hepatitis , transplantation , biopsy , biliary atresia
We present our experience with 18 pediatric patients with α 1 ‐antitrypsin deficiency of the PiZZ phenotype. Fifteen patients (83%) presented with neonatal cholestatic jaundice at a mean age of 2 ± 0.6 months (±S.D.). The male:female ratio was 15:3, indicating a male predominance. All metabolic, infectious and obstructive causes of jaundice were ruled out by appropriate tests in the patients with neonatal cholestasis. Liver biopsy in 14 patients with neonatal cholestasis showed a histological picture of cholestasis in all biopsies; neonatal giant cell hepatitis appeared in seven, increased fibrosis in appeared five and established liver cirrhosis appeared in two biopsies. Patients were followed for a mean of 3.7 ± 2.4 years (±S.D.). Of the 15 patients with neonatal cholestasis, 3 under went liver transplantation because of decompensated liver cirrhosis at 3, 3 1/2 and 7 years. Two patients died at 4 months and 3 years from complications of liver cirrhosis. Of the remaining 10 patients, 3 had histological evidence of liver cirrhosis, and the remaining 7 patients continue to have enlarged liver and spleen with abnormal liver function tests. Of the three patients without history of neonatal cholestasis, only one had enlarged liver and spleen, and the remaining two are healthy with normal liver function tests. Our experience indicates serious liver disease is highly likely to develop in patients with PiZZ α 1 ‐antitrypsin deficiency who present with neonatal cholestatic jaundice. Our experience differs from more recent reports on such patients.