Document Detail

A lifetime of hypercalcemia and hypercalciuria, finally explained.
MedLine Citation:
PMID:  24423361     Owner:  NLM     Status:  Publisher    
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: Report a patient studied for over 30 years ,with the diagnosis finally made with modern biochemical and genetic tools. Design: Case report and review of literature Setting: University Referral Center Patient: Single patient with hypercalcemia, hypercalciuria, and recurrent nephrolithiasis Intervention: Treatment with low calcium diet, low vitamin D intake, prednisone, and ketoconazole. Main Outcome Measure: Clinical and biochemical response to interventions above. Results: Calcium absorption by dual isotope absorptiometry was elevated at 37.4%. Serum levels of 24,25-dihydroxyvitamin D were very low as measured in two laboratories (0.62ng/mL, nl 3.49+/-1.57, and 0.18mg/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.
Thomas P Jacobs; Martin Kaufman; Glenville Jones; Rajiv Kumar; Karl-Peter Schlingmann; Sue Shapses; John P Bilezikian
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-1-13
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  -     ISSN:  1945-7197     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2014 Jan 
Date Detail:
Created Date:  2014-1-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  -    
Other Details:
Languages:  ENG     Pagination:  jc20133802     Citation Subset:  -    
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