title: Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.
abstract: Adenine phosphoribosyltransferase deficiency is a disorder in which 2,8-dihydroxyadenine (2,8-DHA) crystalluria is caused by a congenital deficiency in the enzyme adenine phosphoribosyltransferase (APRT). In most cases, APRT deficiency is caused by autosomal recessive inheritance of a homozygote of the mutant gene APRT*Q0 or APRT*J, but there are also some cases in which the disorder is caused by the compound heterozygote APRT*Q0 and APRT*J. In the patients described here, brown round crystals were found in their urinary sediment. Crystalluria was the first sign of APRT deficiency, thereafter confirmed by genetic screening for APRT*/Q0 and APRT*. We performed genetic screening for APRT*Q0 and APRT*J in two families and diagnosed three cases of APRT*Q0 /APRT*J compound heterozygote-type APRT deficiency. Genetic screening for APRT*Q0 and APRT*J of family members is effective for early diagnosis and early treatment for family members.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Kagawa University, Mikicho 1750-1, Kitagun, Kagawa 761-0793, Japan. iwaki@med.kagawa-u.ac.jp
authors.forename: Takuma
authors.initials: T
authors.lastname: Iwaki
authors.forename: Takashi
authors.initials: T
authors.lastname: Kusaka
authors.forename: Ikuko
authors.initials: I
authors.lastname: Ohashi
authors.forename: Tomoko
authors.initials: T
authors.lastname: Nishida
authors.forename: Tadashi
authors.initials: T
authors.lastname: Imai
authors.forename: Susumu
authors.initials: S
authors.lastname: Itoh
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007676:Kidney Failure, Chronic / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D000228:Adenine Phosphoribosyltransferase