Abstract
INTRODUCTION: Familial hypocalciuric hypercalcaemia (FHH) and primary hyperparathyroidism (PHPT) are both associated with raised serum calcium and parathyroid hormone (PTH) levels; the former should be excluded in patients undergoing surgery for the latter. Twenty-four-hour urinary calcium collections (24UCA) can be performed to quantify total calcium excreted; however, results of this method do not take into account factors such as kidney function. Current guidelines suggest measuring urine calcium to creatinine clearance ratio (CCCR) as the initial step. The aim of this study was to evaluate the use of CCCR and 24UCA in a cohort design, to reliably exclude FHH patients before surgery for PHPT. METHODS: A retrospective cohort study of all patients having urine calcium investigations in a single centre, over a 2-year period was performed. Relevant biochemical data and recorded diagnoses were collected. RESULTS: In total, 296 urine calcium measurements were included from 199 patients. Ten (5%) had genetically confirmed or suspected FHH, 171 (85.9%) had surgically proven or suspected PHPT and the remainder had other diagnoses. At a CCCR cut-off of ≤0.020, positive and negative predictive values (PPV and NPV) were 2.33% and 100%, respectively. At a cut-off of ≤0.015, NPV was maintained at 100% and PPV increased to 3.28%. Low 24UCA measurements (<2.5mmol/L/24h) generated a NPV for FHH of 95.2%. CONCLUSION: A CCCR measurement below 0.020 should raise the possibility of FHH and genetic screening should be considered. 24UCA had a lower predictive power to exclude FHH (NPV), and measurements should be interpreted in the context of renal function.