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Article

Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRTJ/APRTQ0).

International journal of urology : official journal of the Japanese Urological Association - 1 May 1997

Suzuki K, Kobayashi S, Kawamura K, Kuhara T, Tsugawa R

Abstract excerpt

The family members of 2 formers of 2,8-dihydroxyadenine stones were examined for history, adenine phosphoribosyltransferase (APRT) activity, genotype, urinary sediment, and urinary constituents. The patients' father showed a genotype of APRT*1/APRT*Q0, and their mother showed APRT*1/APRT*J. Patients 1 and 2 were compound heterozygotes for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0), and APRT...

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Source

Identifiers

PMID: 9255672
DOI: 10.1111/j.1442-2042.1997.tb00195.x

Genes

APRT

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Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0).PMID 9255672Read ↗

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[2,8-dihydroxyadenine urolithiasis: case report and literature review].Semantic proximity Read ↗

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