JUVENILE CIRRHOSIS AND MEMBRANOUS GLOMERULONEPHRITIS IN A CHILD WITH ALPHA1ANTITRYPSIN DEFICIENCY PiSZ

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Abstract
An infant with alpha1‐antitrypsin (α1‐AT) deficiency PiSZ presented with liver cirrhosis and showed clinical and laboratory evidence of renal disease when hepatic decompensation developed, shortly before death at 12 months of age. Low serum levels of α1‐AT were only demonstrated late in the disease. SZ phenotype was proved by starch gel electrophoresis. Post‐mortem pathological studies revealed sevre hepatic cirrhosis with intracytoplasmic inclusion of α1‐AT and membranous glomerulonephritis with deposits of complement and immunoglobulins but without the presence of α1‐AT. The present case suggests the importance of studying Pi phenotypes and serum levels of α1‐AT in all cases of idiopathic cirrhosis or renal disease in infancy.