familial hypocalciuric hypercalcemia
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Epidemiology
- rare
Clinical manifestations
- generally asymptomatic
Laboratory
- serum calcium: mild to moderate hypercalcemia
- urine calcium:
- low urinary Ca+2 excretion in distinction to hyperparathyroidism
- 24 hour urine calcium < 200 mg/24 hours
- urine calcium/creatinine ratio < 0.01[1]
- serum creatinine & urine creatinine for calculation of calcium to creatinine clearance ratio [1]
- calcium [urine] (mg/dL) x creatinine [serum] (mg/dL) ---------------------------------------------------- calcium [serum] (mg/dL) x creatinine [urine] (mg/dL)
- a ratio of < 0.01 suggests familial hypocalciuric hypercalcemia
- serum PTH is variable, may be inappropriately normal
Differential diagnosis
More general terms
More specific terms
- familial hypocalciuric hypercalcemia type I
- familial hypocalciuric hypercalcemia type II
- familial hypocalciuric hypercalcemia type III
References
- ↑ 1.0 1.1 1.2 Medical Knowledge Self Assessment Program (MKSAP) 11, 16, 17, 18. American College of Physicians, Philadelphia 1998, 2015, 2018.
- ↑ Christensen SE, Nissen PH, Vestergaard P, Mosekilde L. Familial hypocalciuric hypercalcaemia: a review. Curr Opin Endocrinol Diabetes Obes. 2011 Dec;18(6):359-70 PMID: https://www.ncbi.nlm.nih.gov/pubmed/21986511
- ↑ Shinall MC Jr, Dahir KM, Broome JT. Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. Endocr Pract. 2013 Jul-Aug;19(4):697-702. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/23425644