A Lifetime of Hypercalcemia and Hypercalciuria, Finally Explained

作者：Jacobs Thomas P^*; Kaufman Martin; Jones Glenville; Kumar Rajiv; Schlingmann Karl Peter; Shapses Sue; Bilezikian John P

来源：Journal of Clinical Endocrinology & Metabolism, 2014, 99(3): 708-712.

DOI：10.1210/jc.2013-3802

Context: Hypercalcemia, hypercalciuria, and recurrent nephrolithiasis are all common clinical problems. This case report illustrates a newly described but possibly not uncommon cause of this presenting complex.
Objective: We report on a patient studied for over 30 years, with the diagnosis finally made with modern biochemical and genetic tools.
Design and Setting: This study consists of a case report and review of literature conducted in a University Referral Center.
Patient and Intervention: A single patient with hypercalcemia, hypercalciuria, and recurrent nephrolithiasis was treated with low-calcium diet, low vitamin D intake, prednisone, and ketoconazole.
Main Outcome Measure: We measured the patient's clinical and biochemical response to interventions above.
Results: Calcium absorption measured by dual isotope absorptiometry was elevated at 37.4%. Serum levels of 24,25-dihydroxyvitamin D were very low, as measured in two laboratories (0.62 ng/mL [normal, 3.49 +/- 1.57], and 0.18 mg/mL). Genetic analysis of CYP24A1 revealed homozygous mutation E143del previously described. The patient's serum calcium and renal function improved markedly on treatment with ketoconazole but not with prednisone.
Conclusions: Chronic hypercalcemia, hypercalciuria, and/or nephrolithiasis may be caused by mutations in CYP24A1 causing failure to metabolize 1,25-dihydroxyvitamin D.

• 出版日期2014-3