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Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.
- Source :
- Pediatric Nephrology; Jun2010, Vol. 25 Issue 6, p1173-1176, 4p, 1 Diagram, 1 Chart
- Publication Year :
- 2010
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 0931041X
- Volume :
- 25
- Issue :
- 6
- Database :
- Complementary Index
- Journal :
- Pediatric Nephrology
- Publication Type :
- Academic Journal
- Accession number :
- 51398063
- Full Text :
- https://doi.org/10.1007/s00467-009-1430-4