Abstract:
:Adenine phosphoribosyltransferase (APRT) deficiency leading to 2,8-dihydroxyadenine (DHA) urolithiasis has been considered a rare cause of urolithiasis and renal insufficiency. We have examined samples from 19 Japanese families with DHA lithiasis. In 79% of the families, patients only partially lacked hemolysate APRT activities, clearly contrasting with the complete deficiency in all the patients from non-Japanese families so far reported. All patients with DHA lithiasis were homozygotes for defective APRT genes, whether the deficiency was complete or partial. In family studies we found two symptomatic and four asymptomatic homozygous family members. The segregation figures are compatible with the hypothesis of a simple autosomal recessive mode of inheritance. By analyzing the data stored by a large clinical laboratory in Japan, we estimated that 0.00368% of the general population has DHA lithiasis. These data indicate that more than 1% of the general population possess mutant alleles of the APRT gene as heterozygotes. Our present studies indicate that most of the patients with this disease are undiagnosed in Japan, and probably in other countries also.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Kamatani N,Terai C,Kuroshima S,Nishioka K,Mikanagi Kdoi
10.1007/BF00591080subject
Has Abstractpub_date
1987-02-01 00:00:00pages
163-8issue
2eissn
0340-6717issn
1432-1203journal_volume
75pub_type
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