Familial Hypocalciuric Hypercalcemia: Disease Revisit

Xin-Ning Ng ； Wei-Cheng Lian

《Formosan Journal of Endocrinology and Metabolism》 13卷2期 (2022/12) Pp. 83-90

https://doi.org/10.6856/FJEM.202212_13(2).0011

摘要

Background: Familial hypocalciuric hypercalcemia (FHH) is a rare hereditary disease, typically presenting with asymptomatic hypercalcemia, hypocalciuria and normal to mildly elevated serum parathyroid hormone (PTH). Distinguishing FHH from primary hyperparathyroidism (PHPT) is crucial given the therapeutic implications. Methods: We conducted a narrative review of the literature, retrieved from previously published studies on PubMed. Results: Differentiating FHH from PHPT is challenging, as there is considerable overlap in the biochemical parameters, such as serum PTH and 24-hour urinary calcium excretion. Mutational analysis of CASR, GNA11 and AP2S1 genes, remains the gold standard for diagnosing FHH, and is useful when urinary calcium excretion results are equivocal and for genetic counselling. Conclusions: A low urinary calcium excretion (UCCR ＜ 0.01) is suggestive of FHH. Further genetic testing may be beneficial, especially in those with suggestive family history and equivocal results of urinary calcium excretion. Calcimimetic drugs have shown promising results in selected cases of FHH. Future studies are required to identify those who will be benefit the most with calcimimetic drug use.

關鍵字

familial hypocalciuric hypercalcemia ； calcium sensing receptor ； hyperparathyroidism ； hypercalcemia