Introduction:

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Familial hypocalciuric hypercalcemia (FHH) is an inherited disorder of mineral homeostasis that is transmitted as an autosomal dominant trait. FHH is characterized biochemically by lifelong modest elevation of the serum calcium concentration with a relatively mismatched hypocalciuria and normal or mildly elevated circulating parathyroid hormone (PTH) level that is not suppressed by the hypercalcemia.

https://doi.org/10.1038/boneres.2017.1

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Familial Hypocalciuric Hypercalcemia + other calcium sensing disorders - pathophysiology, treatment

Radiology

![Radiographs and bone scans of a Chinese patient with familial hypocalciuric hypercalcemia. Radiographs of (a) orthophoria of the femur (post-operation), (b) lateral film of the femur (non-union of fracture), and (c) lateral film of the lumbar vertebra showing osteoporosis. X-ray of the hands indicating epiphyseal broadening before (d) and after (e) epiphyseal closure. (f) Bone scan showing no specific foci of abnormal tracer deposition.

Wu, B., Wang, O., Jiang, Y. et al. Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient. Bone Res 5, 17001 (2017). https://doi.org/10.1038/boneres.2017.1](attachment:066c18e2-122f-439b-b9cf-032046c8d048:41413_2017_Article_BFboneres20171_Fig1_HTML.webp)

Radiographs and bone scans of a Chinese patient with familial hypocalciuric hypercalcemia. Radiographs of (a) orthophoria of the femur (post-operation), (b) lateral film of the femur (non-union of fracture), and (c) lateral film of the lumbar vertebra showing osteoporosis. X-ray of the hands indicating epiphyseal broadening before (d) and after (e) epiphyseal closure. (f) Bone scan showing no specific foci of abnormal tracer deposition.

Wu, B., Wang, O., Jiang, Y. et al. Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient. Bone Res 5, 17001 (2017). https://doi.org/10.1038/boneres.2017.1