[Pulmonary emphysema, hepatic lesions, and insulin-dependent diabetes in a patient with alpha-1-antitrypsin (Pi ZZ) deficiency (author's transl)].

A 47-year-old patient with panlobular emphysema and insulin-dependent diabetes had an alpha-1-antitrypsin phenotype Pi ZZ deficiency. Liver function tests were abnormal, and postmortem examination of the liver demonstrated abnormal intrahepatocytic globules of A1AT (a typical finding when the allele Z is present), but also fibrosis with steatosis. The patient's sister, Pi ZZ, had neither diabetes nor bronchopneumopathy, and no anomalies in liver function. Needle puncture biopsy of the liver had not been conducted. The phenotype Pi ZZ is typically associated with panlobular emphysema in adults, and cholestatic hepatitis in children. From reports in the published literature, it appears that isolated hepatic lesions or those associated with emphysema are rare. The fortuitous association of diabetes and hepatic lesions in this typical case of pulmonary affection in an adult is discussed.