Service de néphrologie et d'exploration fonctionnelle rénale, hôpital Édouard-Herriot, hospices civils de Lyon, Lyon, France; Université Lyon 1, Lyon, France; Centre de référence des maladies rares du calcium et du phosphore, Centre de référence des maladies rénales rares, filières de santé maladies rares OSCAR, ORKID et ERKNet, Lyon, France.
Université de Nantes, Quai de Tourville, 44000 Nantes, France; Institut de transplantation urologie néphrologie (ITUN), CHU Nantes, 30, boulevard Jean-Monnet, 44093 Nantes cedex, France.
Ann Endocrinol (Paris). 2022 Aug;83(4):237-243. doi: 10.1016/j.ando.2022.05.003. Epub 2022 May 19.
Parathyroid hormone (PTH) is a hypercalcemic hormone acting on kidneys, bone and intestine. PTH promotes calcium release from the bone, renal calcium reabsorption and phosphate excretion, and conversion of 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D-3. Hyperparathyroidism consists in PTH elevation, which may be adapted (secondary hyperparathyroidism) or non-adapted to calcemia levels (primary hyperparathyroidism, familial hypercalcemia/hypocalciuria, tertiary hyperparathyroidism). Primary hyperparathyroidism (PHP) features hypercalcemia and elevated or inappropriate PTH elevation. PHP may be revealed by biological abnormalities such as hypercalcemia and can be accompanied by renal complications (hypercalciuria, nephrolithiasis, nephrocalcinosis) and/or osteoporosis. However, it can also be normocalcemic and calcium loading will be necessary to diagnosis it. The differential diagnosis of PHP is familial hypocalciuric hypercalcemia (FHH), a dominant autosomal disease implicating a calcium sensing receptor-inactivating mutation. It impairs parathyroid cell sensitivity to calcemia elevation and thus induces excessive PTH stimulation, leading to hypercalcemia. Secondary HP (SHP) consists in PTH elevation secondary to a stimulus that needs to be corrected. 25 OHvitD deficiency, kidney failure, renal hypercalciuria, malabsorption and some drugs can induce SHP. Tertiary HP (THP) consists in autonomous PTH secretion by the parathyroid glands after prolonged stimulation under SHP, of whatever cause. This parathyroid autonomy results from the polyclonal hyperplasia observed in SHP progressing toward monoclonal nodular proliferation, leading to nodular hyperplasia or parathyroid adenoma (or, exceptionally, carcinoma), with reduced expression of CaSR and vitamin D receptor. In patients under dialysis, the frontier between SHP and THP is a matter of debate. This review will focus on the pathophysiology of calcium, diagnosis, and management of hyperparathyroidism.
甲状旁腺激素（PTH）是一种作用于肾脏、骨骼和肠道的升血钙激素。PTH 促进骨骼中钙的释放、肾脏钙的重吸收和磷酸盐的排泄，以及 25-羟维生素 D 转化为 1,25-二羟维生素 D-3。甲状旁腺功能亢进症是指 PTH 升高，可能适应（继发性甲状旁腺功能亢进症）或不适应血钙水平（原发性甲状旁腺功能亢进症、家族性高钙血症/低钙尿症、三发性甲状旁腺功能亢进症）。原发性甲状旁腺功能亢进症（PHP）的特点是高钙血症和 PTH 升高或不适当升高。PHP 可通过高钙血症等生物学异常表现出来，并且可伴有肾脏并发症（高钙尿症、肾结石、肾钙质沉着症）和/或骨质疏松症。然而，它也可以是正常血钙，并且需要进行钙负荷试验来诊断。PHP 的鉴别诊断包括家族性低钙血症性高钙血症（FHH），这是一种显性常染色体疾病，涉及钙敏感受体失活突变。它会损害甲状旁腺细胞对血钙升高的敏感性，从而导致过度的 PTH 刺激，导致高钙血症。继发性 HP（SHP）是指 PTH 升高继发于需要纠正的刺激。25-羟维生素 D 缺乏、肾衰竭、肾高钙尿症、吸收不良和某些药物可导致 SHP。三发性 HP（THP）是指在 SHP 下长期刺激后，甲状旁腺自主分泌 PTH。这种甲状旁腺自主性是由于 SHP 中观察到的多克隆增生向单克隆结节性增生进展所致，导致结节性增生或甲状旁腺腺瘤（或罕见情况下为癌），同时伴有 CaSR 和维生素 D 受体表达减少。在透析患者中，SHP 和 THP 之间的界限是一个有争议的问题。这篇综述将重点介绍钙的病理生理学、诊断和甲状旁腺功能亢进症的治疗。
