影响甲状旁腺激素合成、分泌或生物活性的罕见遗传疾病为不同的甲状旁腺激素检测方法提供了诊断依据。

IF 2.2 3区医学 Q3 PERIPHERAL VASCULAR DISEASE

Current Opinion in Nephrology and Hypertension Pub Date : 2024-05-01 DOI:10.1097/mnh.0000000000000999

Jakob Höppner, Harald Jüppner

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引用次数: 0

摘要

甲状旁腺激素（PTH）是调节血钙平衡的主要肽类激素。在各种先天性和后天性疾病（包括慢性肾脏病）患者中均可观察到异常的PTH水平。本综述将重点讨论由 PTH 基因突变引起的罕见人类疾病，这些疾病让人们深入了解了 PTH 合成和分泌的调控以及不同 PTH 检测方法的诊断作用。

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Rare genetic disorders that impair parathyroid hormone synthesis, secretion, or bioactivity provide insights into the diagnostic utility of different parathyroid hormone assays.

Parathyroid hormone (PTH) is the major peptide hormone regulator of blood calcium homeostasis. Abnormal PTH levels can be observed in patients with various congenital and acquired disorders, including chronic kidney disease (CKD). This review will focus on rare human diseases caused by PTH mutations that have provided insights into the regulation of PTH synthesis and secretion as well as the diagnostic utility of different PTH assays.

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来源期刊

Current Opinion in Nephrology and Hypertension 医学-泌尿学与肾脏学

CiteScore

5.70

自引率

6.20%

发文量

132

审稿时长

6-12 weeks

期刊介绍： A reader-friendly resource, Current Opinion in Nephrology and Hypertension provides an up-to-date account of the most important advances in the field of nephrology and hypertension. Each issue contains either two or three sections delivering a diverse and comprehensive coverage of all the key issues, including pathophysiology of hypertension, circulation and hemodynamics, and clinical nephrology. Current Opinion in Nephrology and Hypertension is an indispensable journal for the busy clinician, researcher or student.