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甲状旁腺功能减退症:从诊断到治疗。

Hypoparathyroidism: from diagnosis to treatment.

机构信息

Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy.

出版信息

Curr Opin Endocrinol Diabetes Obes. 2012 Dec;19(6):435-42. doi: 10.1097/MED.0b013e3283591502.

Abstract

PURPOSE OF REVIEW

This review provides an update on hypoparathyroidism (HPT), focusing on the major aspects of diagnosis, clinical manifestations and management of patients with hypocalcaemia due to HPT.

RECENT FINDINGS

Recent advances in the understanding of the physiologic actions of parathormone (PTH) and vitamin D, and the application of molecular genetics, have clarified certain aspects of the pathogenesis, classification, diagnosis and management of HPT.

SUMMARY

PTH promotes bone resorption, decreases urinary calcium excretion, enhances the conversion of 25-hydroxyvitamin D to 1, 25-dihydroxyvitamin D and increases intestinal calcium absorption and phosphate renal excretion. Understanding the molecular cause of the disease in patients and their families has the potential for proper tailoring of genetic counselling, family screening and treatment. Signs and symptoms may be associated not only with the severity, chronicity and therapeutic endpoints in HPT but also with the different causes of the disease. Hypocalcaemia may be an asymptomatic laboratory finding or a life-threatening metabolic disturbance. Although the therapy of acute hypocalcaemia is usually readily accomplished, chronic hypocalcaemia remains a very difficult treatment problem. Replacement therapy with PTH could be a therapeutic option for refractory HPT.

摘要

目的综述

本文就甲状旁腺功能减退症(HPT)的诊治要点进行更新,重点阐述 HPT 导致低钙血症患者的诊断、临床表现和处理。

最近发现

甲状旁腺激素(PTH)和维生素 D 的生理作用,以及分子遗传学的应用,加深了对 HPT 的发病机制、分类、诊断和处理的某些方面的认识。

总结

PTH 促进骨吸收,减少尿钙排泄,增加 25-羟维生素 D 转化为 1,25-二羟维生素 D,增加肠道钙吸收和肾脏磷酸盐排泄。了解患者及其家族的疾病分子病因,可能会为遗传咨询、家族筛查和治疗提供适当的选择。症状和体征不仅与 HPT 的严重程度、慢性程度和治疗终点有关,而且与疾病的不同病因有关。低钙血症可能是无症状的实验室发现,也可能是危及生命的代谢紊乱。尽管急性低钙血症的治疗通常很容易完成,但慢性低钙血症仍然是一个非常困难的治疗问题。PTH 替代治疗可能是难治性 HPT 的一种治疗选择。

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