McMaster University, Hamilton, ON, Canada.
Bone Research and Education Centre, Oakville, ON, Canada.
Endocrine. 2021 May;72(2):553-561. doi: 10.1007/s12020-021-02629-w. Epub 2021 Mar 2.
To evaluate the epidemiology, presentation and management of hypoparathyroidism in Canada. Hypoparathyroidism is associated with significant morbidity and poor quality of life. We present baseline results from the Canadian National Hypoparathyroidism Registry, a prospective observational study evaluating hypoparathyroidism in Canada.
Our study enrolled 130 patients with hypoparathyroidism. Patients were followed every 6 months with clinical and lab assessments. We present baseline data in this manuscript.
Seventy percent (91/130) of patients had postsurgical hypoparathyroidism, 30% (39/130) of patients had nonsurgical hypoparathyroidism due to autoimmune, genetic or idiopathic causes, and a molecular diagnosis was confirmed in 11 of these 39 patients. Pseudohypoparathyroidism was confirmed in 4/39 patients, DiGeorge syndrome in 2/39 patients, Barakat syndrome with a mutation in the GATA3 gene in 1/39, and activating mutations of the CASR gene in 3/39 patients with nonsurgical hypoparathyroidism. Renal complications with nephrocalcinosis or nephrolithiasis were present in 27% (14/52) of patients with postsurgical disease and 17% (4/24) of patients with nonsurgical hypoparathyroidism. Basal ganglia calcification was noted on imaging in 15% (n = 5/34) of patients with postsurgical hypoparathyroidism and 37% (n = 7/19) of patients with nonsurgical hypoparathyroidism.
Hypercalciuria was more commonly seen in those with renal complications of nephrocalcinosis, nephrolithiasis or CKD, and hyperphosphatemia was more commonly seen in those with basal ganglia calcification. Hospitalization occurred in 28% of those with postsurgical hypoparathyroidism and 46% of those with nonsurgical hypoparathyroidism. Hypoparathyroidism is associated with significant morbidity. Effective strategies to reduce the short-and long-term complications of hypoparathyroidism need to be developed and evaluated.
评估加拿大甲状旁腺功能减退症的流行病学、表现和管理。甲状旁腺功能减退症与显著的发病率和生活质量差有关。我们报告了加拿大甲状旁腺功能减退症国家登记处的基线结果，这是一项评估加拿大甲状旁腺功能减退症的前瞻性观察研究。
我们的研究纳入了 130 例甲状旁腺功能减退症患者。患者每 6 个月进行一次临床和实验室评估。本文报告了基线数据。
70%（91/130）的患者为手术后甲状旁腺功能减退症，30%（39/130）的患者为非手术性甲状旁腺功能减退症，病因包括自身免疫、遗传或特发性，其中 11 例患者的分子诊断得到了确认。4 例患者确诊为假性甲状旁腺功能减退症，2 例患者确诊为 DiGeorge 综合征，1 例患者确诊为 GATA3 基因突变的 Barakat 综合征，3 例非手术性甲状旁腺功能减退症患者的 CASR 基因突变激活。手术后疾病患者中有 27%（14/52）和非手术性甲状旁腺功能减退症患者中有 17%（4/24）出现肾脏并发症，包括肾钙质沉着症或肾结石。手术后甲状旁腺功能减退症患者中有 15%（n=5/34）和非手术性甲状旁腺功能减退症患者中有 37%（n=7/19）的影像学检查显示基底节钙化。
高钙尿症更常见于伴有肾钙质沉着症、肾结石或 CKD 等肾脏并发症的患者，高磷血症更常见于伴有基底节钙化的患者。手术后甲状旁腺功能减退症患者中有 28%和非手术性甲状旁腺功能减退症患者中有 46%需要住院治疗。甲状旁腺功能减退症与显著的发病率有关。需要制定和评估有效的策略来减少甲状旁腺功能减退症的短期和长期并发症。
