Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Dihydroxyadenin urolithiasis

Adenine phosphoribosyltransferase deficiency is an autosomal recessive disorder characterized by sedimentation of dihydroxyadenine in the urinary tract (DHA urolithiasis).

Management

For the management of adenine phosphoribosyltransferase deficiency Allopurinol treatment can be recommended. Febuxostat provides an plausible alternative though not yet tested and/or published with that disorder. Additional supportive therapy includes sufficient water intake and early treatment of urogenital infections.

Symptoms

Crystalluria
DHA crystals show a typical picture by polarized microscopy: the crystals appear as round and reddish-brown, with characteristic central Maltese cross pattern.

Systematic

Urolithiasis
Cystinuria
Dicarboxylic aminoaciduria
Dihydroxyadenin urolithiasis
APRT
Nephrocalcinosis
Nephrolithiasis diarrhea syndrome
Susceptibility to nephrolithiasis
Uric acid nephropathy

References:

1.

Mimori A et al. (1991) A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.

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2.

Kamatani N et al. (1989) Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.

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3.

Hidaka Y et al. (1987) Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.

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4.

Menardi C et al. (1997) Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.

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5.

Bollée G et al. (2012) Adenine phosphoribosyltransferase deficiency.

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6.

OMIM.ORG article

Omim 102600 [^]
7.

Wikipedia article

Wikipedia EN (Adenine_phosphoribosyltransferase_deficiency) [^]
Update: May 9, 2019