Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

Systematic

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