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

• Published in: Nippon Hinyokika Gakkai zasshi Vol. 77; no. 3; pp. 517 - 522
• Main Authors: Tatara, Kiyoshi, Kanayama, Hiro-omi, Kamatani, Naoyuki, Nishioka, Kusuki
• Format: Journal Article
• Language: Japanese
• Published: Japan THE JAPANESE UROLOGICAL ASSOCIATION 01.03.1986
• Subjects: Adenine - analogs & derivatives; Adenine - metabolism; Adenine Phosphoribosyltransferase - deficiency; Adult; Female; Humans; Middle Aged; Pedigree; Urinary Calculi - genetics; Urinary Calculi - metabolism

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 o...