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June 1973

Infantile Cirrhosis With Hereditary Alpha1-Antitrypsin Deficiency: Clinical Improvement in Two Siblings

Author Affiliations

From the Department of Pediatrics, Harvard Medical School, Children's Service, Massachusetts General Hospital (Dr. Talamo), and the Department of Pediatrics, Tufts University School of Medicine, Center for Genetic Counseling and Birth Defect Evaluation, Boston Floating Hospital (Dr. Feingold).

Am J Dis Child. 1973;125(6):845-847. doi:10.1001/archpedi.1973.04160060051011

Two male siblings had the onset of liver disease in the early months of life; cirrhosis was demonstrated on open liver biopsy in one, and both were found to have hereditary ZZ alpha1-antitrypsin deficiency in a family genetic study.

Both infants have shown significant improvement and are clinically well at the ages of 18 months and 3 years, respectively. The infantile cirrhosis associated with severe alpha1-antitrypsin deficiency does not necessarily pursue a continuous, relentless, down-hill course.

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