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儿童的激素抵抗:基层医疗保健医生需要了解的知识。

Hormone resistance in children: what primary care physicians need to know.

机构信息

Department of Pediatrics, Faculty of Medicine, Assiut University, Assiut, Egypt..

出版信息

Acta Biomed. 2021 Sep 2;92(4):e2021255. doi: 10.23750/abm.v92i4.11613.

DOI:10.23750/abm.v92i4.11613
PMID:34487068
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8477115/
Abstract

Hormone resistance is defined as a reduced or absence of  target tissues responsiveness to a hormone, where the presentation is related to either a relative lack or excess of hormones. Various disorders of hormone resistance were encountered including, Laron syndrome, nephrogenic diabetes insipidus, thyroid hormone resistance syndrome, pseudohypoparathyroidism, insulin resistance, familial glucocorticoid deficiency, pseudohypoaldosteronism, X linked hypophosphatemic rickets  and androgen insensitivity syndrome. The article gives a summary that presents, in concentrated form, what the primary care physicians need to know about recognition,  clinical presentation, diagnosis, and management  of various hormone resistance in children.

摘要

激素抵抗定义为靶组织对激素的反应性降低或缺失,其表现与激素相对缺乏或过多有关。我们遇到了各种激素抵抗疾病,包括 Laron 综合征、肾性尿崩症、甲状腺激素抵抗综合征、假性甲状旁腺功能减退症、胰岛素抵抗、家族性糖皮质激素缺乏症、假性醛固酮血症、X 连锁低磷佝偻病和雄激素不敏感综合征。本文总结了初级保健医生需要了解的关于儿童各种激素抵抗的识别、临床表现、诊断和管理的知识。

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[Nephrogenic diabetes insipidus].肾性尿崩症
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Resistance to Thyroid Hormone in a Boy with a Severe, Complex, Congenital Heart Defect (CHD) Requiring Multiple Cardiac Surgeries-Whether and How to Prepare Child for the Surgery.一名患有严重复杂先天性心脏病(CHD)且需要多次心脏手术的男孩对甲状腺激素的抵抗——是否以及如何为患儿的手术做准备。
J Clin Med. 2025 Feb 12;14(4):1209. doi: 10.3390/jcm14041209.
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Thyroid Hormone Resistance Syndrome: From Molecular Mechanisms to Its Potential Contribution to Hypertension.甲状腺激素抵抗综合征:从分子机制到其对高血压的潜在影响
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Resistance to Thyroid Hormones: A Case-Series Study.抗甲状腺激素:病例系列研究。
Int J Mol Sci. 2022 Sep 24;23(19):11268. doi: 10.3390/ijms231911268.

本文引用的文献

1
TSH adenoma and syndrome of resistance to thyroid hormones-Two cases report of syndrome of inappropriate secretion of thyrotropin.促甲状腺激素腺瘤和甲状腺激素抵抗综合征- 两例垂体促甲状腺激素不适当分泌综合征。
Brain Behav. 2021 May;11(5):e02081. doi: 10.1002/brb3.2081. Epub 2021 Mar 10.
2
A mini-review of pharmacological strategies used to ameliorate polyuria associated with X-linked nephrogenic diabetes insipidus.X 连锁遗传性尿崩症多尿相关的药理学治疗策略的小型综述。
Am J Physiol Renal Physiol. 2020 Nov 1;319(5):F746-F753. doi: 10.1152/ajprenal.00339.2020. Epub 2020 Sep 14.
3
Diabetes Insipidus: An Update.尿崩症:最新进展。
Endocrinol Metab Clin North Am. 2020 Sep;49(3):517-531. doi: 10.1016/j.ecl.2020.05.012. Epub 2020 Jul 15.
4
From infancy to adulthood: challenges in congenital nephrogenic diabetes insipidus.从婴儿期到成年期:先天性肾性尿崩症面临的挑战
J Pediatr Endocrinol Metab. 2020 Jul 4. doi: 10.1515/jpem-2019-0529.
5
Clinical Evidence for the Benefits of Burosumab Therapy for X-Linked Hypophosphatemia (XLH) and Other Conditions in Adults and Children.成人和儿童 X 连锁低磷血症(XLH)及其他疾病中使用布罗索尤单抗治疗的临床证据。
Front Endocrinol (Lausanne). 2020 May 28;11:338. doi: 10.3389/fendo.2020.00338. eCollection 2020.
6
Diagnosis and differential diagnosis of diabetes insipidus: Update.尿崩症的诊断和鉴别诊断:更新。
Best Pract Res Clin Endocrinol Metab. 2020 Sep;34(5):101398. doi: 10.1016/j.beem.2020.101398. Epub 2020 Feb 28.
7
Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients.39 例雄激素不敏感综合征患者的临床、激素和遗传特征。
Reprod Biol Endocrinol. 2020 Apr 28;18(1):34. doi: 10.1186/s12958-020-00593-0.
8
Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation.对 X 连锁低磷血症性佝偻病患儿 PHEX 基因突变的功能分析表明无基因型-表型相关性证据。
J Bone Miner Res. 2020 Sep;35(9):1718-1725. doi: 10.1002/jbmr.4035. Epub 2020 May 12.
9
Thyroid Hormone Analogues: An Update.甲状腺激素类似物:更新。
Thyroid. 2020 Aug;30(8):1099-1105. doi: 10.1089/thy.2020.0071. Epub 2020 Apr 7.
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Diabetes Insipidus.尿崩症
Pediatr Rev. 2020 Feb;41(2):96-99. doi: 10.1542/pir.2018-0337.