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

Abstract

An infant with alpha1-antitrypsin (alpha1-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 alpha1-AT were only demonstrated late in the disease. SZ phenotype was proved by starch gel electrophoresis. Post-mortem pathological studies revealed severe hepatic cirrhosis with intracytoplasmic inclusion of alpha1-AT and membranous glomerulonephritis with deposits of complement and immunoglobulins but without the presence of alpha1-AT. The present case suggests the importance of studying Pi phenotypes and serum levels of alpha1-AT in all cases of idiopathic cirrhosis or renal disease in infancy.

Uncompensated polyuria in a mouse model of Bartter's syndrome

“…They exhibited metabolic acidosis associated with an elevated anion gap, Na-(Cl ϩ HCO3). Some human patients with Bartter's syndrome also exhibit metabolic acidosis (24,25).…”

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“…The course of this patient leaves us feeling pessimistic about the long-term progress of these patients, as our experience and that of others (2,3) show it can be fatal like that of homozygous PiZZ.…”

Liver Involvement in Infants with PiSZ Phenotype of α1‐Antitrypsin Deficiency

“…The course of this patient leaves us feeling pessimistic about the long-term progress of these patients, as our experience and that of others (2,3) show it can be fatal like that of homozygous PiZZ o J Pediatr Gastroenterol Nutr , Vol. 17…”