THREE FAMILIES WITH 2, 8-DIHYDROXYADENINE UROLITHIASIS HAVING DIFFERENT GENETIC ABNORMALITIES

Abstract

We found three families with 2, 8-dihydroxyadenine urolithiasis. One of the families had three patients among the siblings and each of the other two families had one patient. Family studies have suggested that the disease is inherited as an autosomal recessive fashion in all the families. Patients of two of the families were completely deficient in adenine phosphoribosyltransferase (APRT) activities both in hemolysates and in T-cell extracts, while three sibling patients of the other family were only partially deficient in the enzyme activities. Previous reports about this disease indicated that all the patients in Caucacians were of the former type (complete deficiency), while more than half of the patients in Japan were of the latter type (partical deficiency). Our present studies indicate that some Japanese families with 2, 8-dihydroxyadenine lithiasis are really only partially deficient in the enzyme activities and that both types of the disease are inherited as an autosomal recessive manner.