Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous condition resembling primary hyperparathyroidism but not curable by surgery. Cinalcelcet may improve symptoms some patients but limited experienced especially in children. A 10 years old child evaluated by uveitis, sacroileitis, spondyloarthritis and diagnosed as HLA-B27 positive juvenile idiopathic arthritis (JIA). Also at the same time he evaluated by high calcium, low phosphate and inappropriately high PTH level and hypocalciuria. Therefore he diagnosed as hypocalciuric hypercalcemia. He screened for calcium sensing receptor (CASR) mutations with negative results. Further genetic analyses will plan for other reason of FHH. His JIA and associated symptoms resolved after anti-inflammatory therapy, but his hypercalcemia and associated symptoms persisted; also osteoporosis was detected on dual-energy X-ray absorptiometry. As a result of symptomatic hypercalcemia, the patient was treated with a calcimimetic (cinacalcet). During the treatment, plasma calcium and PTH level normalized and symptoms were decreased. Cinacalcet treatment was well tolerated without significant side effects. Cinacelcet therapy may be useful option for control hypercalcemia and related symptoms at least short term in children.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology