甲状旁腺功能减退症的表现：病因和临床特征。

Presentation of Hypoparathyroidism: Etiologies and Clinical Features.

机构信息

Endocrine Research Unit (D.M.S.), San Francisco Department of Veterans Affairs Medical Center, University of California, San Francisco, California 94121; Department of Medicine (J.P.B., A.G.C.), Division of Endocrinology, Metabolic Bone Diseases Unit, Columbia University College of Physicians and Surgeons, New York, New York 10032; Department of Medicine (A.G.C.), Division of Endocrinology, São Paulo Federal University, São Paulo 04021-001, Brazil; Department of Pathology and Cell Biology (D.D.), Columbia University College of Physicians and Surgeons, New York, New York 10032; Regional Bone Center (D.D.), Helen Hayes Hospital, Haverstraw, New York 10993; Department of General, Visceral, and Vascular Surgery (H.D.), University Hospital, Medical Faculty, Martin-Luther-University Halle-Wittenberg, 06108 Halle/Saale, Germany; McMaster University Calcium Disorders Clinic (A.A.K.), Hamilton, Canada L8S 4K1; Department of Medicine (M.P.), Indiana University School of Medicine, Indianapolis, Indiana 46202; U.O. di Chirurgica Endocrina e Metabolica, Policlinico A. Gemelli (M.R.), Università Cattolica del Sacro Cuore, 00168 Rome, Italy; Department of Medicine (B.C.S.), University Center of Belo Horizonte, and Division of Endocrinology, Santa Casa de Belo Horizonte, Belo Horizonte 30150-21, Brazil; Academic Endocrine Unit (R.V.T.), Oxford University, Oxford Centre for Diabetes Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford OX3 7LI, United Kingdom; Section of Endocrinology (T.V.), Department of Medicine, University of Chicago, Chicago, Illinois 60637; and Clinic and Laboratory of Experimental Endocrinology (R.B.), Gasthuisberg, KU Leuven, 3000 Leuven, Belgium.

出版信息

J Clin Endocrinol Metab. 2016 Jun;101(6):2300-12. doi: 10.1210/jc.2015-3909. Epub 2016 Mar 4.

DOI:10.1210/jc.2015-3909

PMID:26943721

Abstract

CONTEXT

Understanding the etiology, diagnosis, and symptoms of hypoparathyroidism may help to improve quality of life and long-term disease outcomes. This paper summarizes the results of the findings and recommendations of the Working Group on Presentation of Hypoparathyroidism.

EVIDENCE ACQUISITION

Experts convened in Florence, Italy, in May 2015 and evaluated the literature and recent data on the presentation and long-term outcomes of patients with hypoparathyroidism.

EVIDENCE SYNTHESIS

The most frequent etiology is surgical removal or loss of viability of parathyroid glands. Despite precautions and expertise, about 20-30% of patients develop transient and 1-7% develop permanent postsurgical hypoparathyroidism after total thyroidectomy. Autoimmune destruction is the main reason for nonsurgical hypoparathyroidism. Severe magnesium deficiency is an uncommon but correctable cause of hypoparathyroidism. Several genetic etiologies can result in the loss of parathyroid function or action causing isolated hypoparathyroidism or a complex syndrome with other symptoms apart from those of hypoparathyroidism or pseudohypoparathyroidism. Neuromuscular signs or symptoms due to hypocalcemia are the main characteristics of the disease. Hyperphosphatemia can contribute to major long-term complications such as ectopic calcifications in the kidney, brain, eye, or vasculature. Bone turnover is decreased, and bone mass is increased. Reduced quality of life and higher risk of renal stones, renal calcifications, and renal failure are seen. The risk of seizures and silent or symptomatic calcifications of basal ganglia is also increased.

CONCLUSIONS

Increased awareness of the etiology and presentation of the disease and new research efforts addressing specific questions formulated during the meeting should improve the diagnosis, care, and long-term outcome for patients.

摘要

背景

了解甲状旁腺功能减退症的病因、诊断和症状有助于改善生活质量和长期疾病结局。本文总结了甲状旁腺功能减退症表现工作组的研究结果和建议。

证据获取

专家于 2015 年 5 月在意大利佛罗伦萨召开会议，评估了关于甲状旁腺功能减退症表现和长期结局的文献和最新数据。

证据综合

最常见的病因是甲状旁腺被手术切除或失去活力。尽管采取了预防措施和专业技术，大约 20-30%的患者在甲状腺全切除术后会出现短暂性，1-7%的患者会出现永久性手术后甲状旁腺功能减退症。自身免疫破坏是导致非手术性甲状旁腺功能减退症的主要原因。严重的镁缺乏是甲状旁腺功能减退症的罕见但可纠正的原因。几种遗传病因可导致甲状旁腺功能丧失或作用障碍，引起孤立性甲状旁腺功能减退症或伴有甲状旁腺功能减退症或假性甲状旁腺功能减退症以外症状的复杂综合征。由于低钙血症引起的神经肌肉体征或症状是该病的主要特征。高磷血症可导致严重的长期并发症，如肾脏、大脑、眼睛或脉管系统的异位钙化。骨转换减少，骨量增加。生活质量降低，患肾结石、肾钙化和肾衰竭的风险增加。癫痫发作和基底节无症状或有症状钙化的风险也增加。