rifampin and Kidney-Calculi

Pharmacological therapy may be useful in the treatment of moderate to severe hypercalcemia in patients with infantile hypercalcemia-1 (HCINF1) due to pathogenic variants in the cytochrome P450 24 subfamily A member 1 (CYP24A1). Rifampin is an antituberculosis drug that is a potent inducer of cytochrome P450 3 subfamily A member 4, which is involved in an alternative catabolic pathway of vitamin D. The efficacy of rifampin in improving hypercalcemia was previously reported, but many questions remain on the long-term efficacy and safety. The aim of the study is to test the long-term efficacy and safety of rifampin in a patient with HCINF1.. We report clinical, biochemical, and imaging features of a 23-year-old man affected by HCINF1 with moderate hypercalcemia (12.9 mg/dL), symptomatic nephrolithiasis, nephrocalcinosis, and impaired kidney function [estimated glomerular filtration rate (eGFR) 60 mL/min/1.73 m2] treated with rifampin for an overall period of 24 months. Kidney, liver, and adrenal function were evaluated at every follow-up visit.. In 2 months, rifampin induced a normalization of serum calcium (9.6 mg/dL) associated with an improvement of kidney function (eGFR 92 mL/min/1.73 m2) stable during the treatment. After 15 months, rifampin was temporally withdrawn because of asthenia, unrelated to impairment of adrenal function. After 3 months, the timing of drug administration was shifted from the morning to the evening, obtaining the remission of asthenia. At the end of follow-up, the nephrolithiasis disappeared and the nephrocalcinosis was stable.. Rifampin could represent an effective choice to induce a stable reduction of calcium levels in patients with HCINF1, with a good safety profile.

Topics: Adult; Asthenia; Calcium; Humans; Hypercalcemia; Kidney Calculi; Male; Nephrocalcinosis; Rifampin; Vitamin D; Vitamin D3 24-Hydroxylase; Young Adult

Topics: Aminosalicylic Acids; Calcinosis; Drug Synergism; Epididymitis; Ethambutol; Female; Humans; Hypertension, Renal; Isoniazid; Kidney Calculi; Male; Mycobacterium tuberculosis; Nephrectomy; Prednisolone; Rifampin; Streptomycin; Tuberculosis, Urogenital; Ureteral Obstruction; Urinary Bladder; Urinary Diversion; Urine