相关实验视频

Updated: May 31, 2025

Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation

Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation

Published on: March 14, 2017

新生儿严重的甲状腺功能增强症与非活化感应受体 (CaSR) 突变 (p.I81K)

Zeynep Donbaloglu¹, Merve Gullu², Suat Tekin²

¹Department of Pediatric Endocrinology, Akdeniz University Hospital, Antalya, Türkiye.

Journal of pediatric endocrinology & metabolism : JPEM

|January 22, 2025

概括

由CaSR基因突变引起的新生儿严重甲状腺功能过高症 (NSHPT) 需要早期诊断. 这个案例显示了通过双酸盐,cinacalcet和副甲状腺切除术的成功管理,导致正常发育.

科学领域:

儿科内分泌学儿科内分泌学
遗传学是一个遗传学.
腎臟病學 (nephrology) 是一種醫學.

背景情况:

新生儿严重甲状腺功能障碍 (NSHPT) 是一种罕见的遗传性疾病.
它源于感受受体 (CaSR) 基因中的失活突变.
在新生儿中,NSHPT会导致严重的高血症和相关并发症.

研究的目的:

报告一个用多模式方法管理的NSHPT病例.
突出NSHPT医疗和外科干预的长期结果.
强调早期诊断和全面后续治疗的重要性.

主要方法:

一个六天大的婴儿因同卵性CaSR突变 (c.242T>A; p.I81K) 而患有NSHPT的案例介绍.
最初的治疗包括双酸盐,其次是治疗持续性副甲状腺症的cinacalcet.
最终的治疗包括全侧甲状腺切除术,随后长期补充和酸.

主要成果:

双酸盐疗法维持了正常血症11个月,但甲状腺功能障碍症仍然存在.
西纳卡塞特治疗有效持续9个月.
副甲状腺切除术后,患者需要终身补充和醇,但在3岁时实现了正常生长和神经发育.

结论:

这一案例证明了NSHPT阶段性治疗策略的成功应用.
早期诊断和干预对于优化NSHPT的结果至关重要.
医疗管理和外科干预的结合,加上长期随访,对于管理NSHPT至关重要.

关键词:

这就是 CaSR 基因.这就是Cinecalcetcet.甲状腺功能障碍症的高甲状腺功能障碍.新生儿高血症新生儿高血症副甲状腺自身移植

更多相关视频

Generation of Hypoparathyroid Rats via Carbon-Nanoparticle-Assisted Parathyroidectomy

Generation of Hypoparathyroid Rats via Carbon-Nanoparticle-Assisted Parathyroidectomy

Published on: July 14, 2023

Establishment of a Simple and Effective Rat Model for Intraoperative Parathyroid Gland Imaging

Establishment of a Simple and Effective Rat Model for Intraoperative Parathyroid Gland Imaging

Published on: August 17, 2022

相关概念视频

Calmodulin-dependent Signaling

Calmodulin-dependent Signaling

Calmodulin (CaM) is a calcium-binding protein in eukaryotes that controls various calcium-regulated cellular processes. It has four calcium-binding sites that bind calcium to form the calcium-calmodulin ( Ca2+-CaM) complex. GPCR stimulation increases the calcium levels in the cells that bind to CaM and induces a conformational change.
The Ca2+-CaM complex does not have enzymatic activity by itself. Instead, the complex binds downstream target proteins, including membrane proteins or enzymes,...

Skeleton and Calcium Homeostasis

Skeleton and Calcium Homeostasis

Calcium is not only the most abundant mineral in bone but also the most abundant mineral in the human body. Calcium ions are needed for bone mineralization, tooth health, heart rate regulation and strength of contraction, blood coagulation, the contraction of smooth and skeletal muscle cells, and the regulation of nerve impulse conduction. The average calcium level in the blood is about 10 mg/dL. When the body cannot maintain this level, a person will experience hypo or hypercalcemia.