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[Urolithiasis in 2,8-dihydroxyadeninuria: presentation of 3 additional cases]
1Urologische Klinik und Poliklinik, Westfälische Wilhelms-Universität Münster.
Zeitschrift Fur Urologie Und Nephrologie
|July 1, 1990
Summary
This study presents new cases of 2,8-dihydroxyadeninuria, a rare purine metabolism disorder causing kidney stones (urolithiasis). The findings highlight the composition of these unique stones and add to the known Caucasian patient cases.
Area of Science:
- Biochemistry
- Genetics
- Nephrology
Background:
- 2,8-dihydroxyadeninuria (2,8-DHA) is a rare inherited disorder of purine metabolism.
- It results from a deficiency in adenine phosphoribosyltransferase (APRT) activity.
- This deficiency leads to the accumulation and excretion of 2,8-DHA, a purine metabolite.
Observation:
- Presents additional cases of urolithiasis in Caucasian patients with 2,8-DHA.
- Includes a case of monozygotic twins (13-year-old boys) affected by the disorder.
- Describes a mixed calculus (80% 2,8-DHA, 20% calcium oxalate) in a 38-year-old male patient.
Findings:
- Confirms that calculi in 2,8-DHA are predominantly composed of pure 2,8-DHA.
- Documents the first reported instance of a mixed 2,8-DHA and calcium oxalate calculus.
- Expands the documented cases of this rare condition in Caucasian populations.
Implications:
- Increases the understanding of the clinical spectrum of APRT deficiency.
- Provides insights into the potential for mixed stone formation in this disorder.
- Contributes to the literature for diagnosing and managing 2,8-dihydroxyadeninuria and associated urolithiasis.