2,8-dihyroxyadenine (DHA) crystalline nephropathy: A case report

Area of Science:

• Nephrology
• Genetics
• Metabolic Disorders

Background:

• Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder.
• It leads to the accumulation of 2,8-dihydroxyadenine (DHA), causing kidney stones and crystalline nephropathy.
• Clinical presentation is highly variable, ranging from asymptomatic to severe kidney damage.

Observation:

• A 45-year-old woman presented with acute kidney injury and recurrent vomiting.
• Kidney biopsy showed brown crystal deposition in tubules and acute tubular injury.
• Crystals exhibited birefringence under polarized light, indicative of DHA.

Findings:

• The patient was diagnosed with 2,8-dihydroxyadenine (DHA) crystalline nephropathy secondary to APRT deficiency.
• Treatment with a xanthine oxidase inhibitor led to improved kidney function.
• This case underscores the diverse clinical manifestations of APRT deficiency.

Implications:

• APRT deficiency should be considered in hereditary crystalline nephropathy.
• Timely diagnosis and management are crucial for preventing irreversible kidney damage.
• Xanthine oxidase inhibitors represent an effective therapeutic strategy for DHA nephropathy.