Abstract：
Calcium-sensing receptors (CaSRs) are G protein-coupled receptors that help maintain Ca2+ concentrations, modulating calciotropic hormone release (parathyroid hormone (PTH), calcitonin and 1,25-dihydroxyvitamin D) by direct actions in the kidneys, gastrointestinal tract and bone. Variability in population calcium levels has been attributed to single nucleotide polymorphisms in CaSR genes, and several conditions affecting calcium and phosphate homeostasis have been attributed to gain- or loss-of-function mutations. An example is autosomal dominant hypercalciuric hypocalcaemia, because of a missense mutation at codon 128 of chromosome 3, as reported in our specific case and her family. As a consequence of treating symptomatic hypocalcaemia as a child, this female subject slowly developed progressive end-stage kidney failure because of nephrocalcinosis and nephrolithiasis. After kidney transplantation, she remains asymptomatic, with decreased vitamin D and elemental calcium requirements, stable fluid and electrolyte homeostasis during intercurrent illnesses and has normalised urinary calcium and phosphate excretion, reducing the likelihood of hypercalciuria-induced graft impairment. We review the actions of the CaSR, its role in regulating renal Ca2+ homeostasis along with the impact of a proven gain-of-function mutation in the CaSR gene resulting in autosomal dominant hypercalciuric hypocalcaemia before and after kidney transplantation.
摘要：
钙敏感受体（CaSR）是G蛋白偶联受体，有助于维持Ca2+浓度，调节钙化激素释放（甲状旁腺激素（PTH），降钙素和1,25-二羟维生素D）通过肾脏的直接作用，胃肠道和骨骼。群体钙水平的变异性归因于CaSR基因中的单核苷酸多态性。影响钙和磷酸盐稳态的一些条件已归因于功能的增益或丧失突变。一个例子是常染色体显性遗传高钙血症，因为3号染色体128号密码子的错义突变，正如我们的具体病例和她的家人所报道的。作为儿童治疗症状性低钙血症的结果，由于肾钙化病和肾结石，该女性受试者缓慢发展为进行性终末期肾衰竭。肾移植后,她仍然没有症状,随着维生素D和元素钙的需求减少，在并发疾病期间稳定的液体和电解质稳态，并使尿钙和磷酸盐排泄正常化，降低高钙尿症诱导的移植物损害的可能性。我们回顾了CaSR的行动，它在调节肾脏Ca2稳态中的作用，以及已证实的CaSR基因功能获得突变在肾移植前后导致常染色体显性遗传高钙血症的影响。
