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[2,8-dihydoroxyadenine (DHA) urolithiasis: a case report]
Masahiro Shiba1, Kiyonori Shimizu, Hiroshi Takatera
1Urologic Clinic, Yao Tokusyukai General Hospital.
Hinyokika Kiyo. Acta Urologica Japonica
|October 2, 2003
Summary
This case study details a rare instance of 2,8-dihydroxyadenine (DHA) urolithiasis in a young woman, caused by adenine phosphoribosyltransferase (APRT) deficiency. Successful stone removal was achieved through TUL and ESWL procedures.
Area of Science:
- Nephrology
- Medical Genetics
- Biochemistry
Background:
- Urolithiasis, or kidney stones, can arise from various metabolic disorders.
- 2,8-dihydroxyadenine (DHA) stones are a rare form of urolithiasis.
- Adenine phosphoribosyltransferase (APRT) deficiency is an inherited metabolic disorder linked to DHA stone formation.
Observation:
- A 28-year-old female presented with acute left flank pain.
- Radiological imaging revealed radiolucent ureteral and renal stones.
- Spectrophotometric analysis confirmed the stones were composed of 2,8-DHA.
Findings:
- The patient exhibited significantly reduced Adenine phosphoribosyltransferase (APRT) enzyme activity.
- Molecular analysis identified the genotype as APRT*J/APRT*Q0, confirming APRT deficiency.
- The findings establish a diagnosis of 2,8-DHA urolithiasis secondary to APRT deficiency.
Implications:
- This case highlights the importance of considering rare metabolic disorders in urolithiasis diagnosis.
- Early diagnosis and management of APRT deficiency can prevent recurrent stone formation.
- Understanding the genetic basis (APRT*J/APRT*Q0 genotype) aids in genetic counseling and family screening.