Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents with recurrent radiolucent nephrolithiasis and/or unexplained progressive renal insufficiency. History significant for passage of tan/brownish gravel. No response to standard calcium-based stone management. Family history suggestive of autosomal recessive inheritance.
Clinical Examination Findings
General appearance: Patient may appear in distress if experiencing renal colic. Vitals: Monitor for hypertension secondary to CKD. Skin: Inspect for potential crystal deposition (rare). Hydration status: Assess for signs of volume depletion due to polyuria or obstructive uropathy.
Treatment Protocol
Initiate high fluid intake to maintain urine output >2.5 L/day. Start Allopurinol or Febuxostat to inhibit xanthine oxidase and reduce 2,8-DHA production. Dietary restriction of purine-rich foods. Monitor serum creatinine and eGFR closely. Consider genetic counseling.