[The polycystic kidney and serum alpha-1-antitrypsin deficiency. Observations on 2 family groups].
The purpose of this study was to analyze the relation between association of alpha 1-antitrypsin (AAT) deficiency (an inborn error of metabolism) and familial polycystic disease of the kidney. Emphasis is laid on coexistence of two the pathological fitness in some members of two family tree. Based on the presented findings it seems reasonable to conclude that AAT-deficiency may be correlated to the pathogenesis of polycystic kidney.
D005260:Female; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000097:blood / Q000150:complications / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000097:blood; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin
Rene policistico e deficit di alfa1-antitrypsina sierica. Osservazioni su due gruppi familiari.