APRT deficiency: the need for early diagnosis.

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 in the kidneys, causing nephrolithiasis and chronic kidney disease.
• Crystal nephropathy is a significant complication of this condition.

Observation:

• A 55-year-old previously healthy male presented with shortness of breath.
• Diagnostic investigations revealed Adenine phosphoribosyltransferase (APRT) deficiency.
• This case highlights the importance of recognizing subtle symptoms of rare diseases.

Findings:

• Early diagnosis of APRT deficiency enabled prompt treatment with allopurinol.
• Treatment improved renal function, offering a potential to discontinue renal replacement therapy.
• Genetic testing facilitated the identification of at-risk family members.

Implications:

• Timely initiation of xanthine oxidoreductase (XOR) inhibitors can prevent renal failure in individuals with APRT deficiency.
• Awareness and prompt recognition of APRT deficiency symptoms are crucial for effective management.
• The case also addresses considerations for kidney donation within affected families.