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: Takuma Iwaki, Takashi Kusaka, Ikuko Ohashi, Tomoko Nishida, Tadashi Imai, Susumu Itoh
• Journal: Pediatric nephrology (Berlin, Germany) (Pediatr Nephrol) Vol. 25 Issue 6 Pg. 1173-6 (Jun 2010) ISSN: 1432-198X [Electronic] Germany
• PMID: 20101413 (Publication Type: Case Reports, Journal Article)

Chemical References

• Adenine Phosphoribosyltransferase

Topics

• Adenine Phosphoribosyltransferase (deficiency, genetics)
• Child, Preschool
• Female
• Heterozygote
• Humans
• Infant
• Kidney Failure, Chronic (genetics)
• Male
• Mutation
• Pedigree