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新型基因变异导致胎儿甲状腺肿的羊膜腔内左甲状腺素输注治疗1例

Intra-amniotic levothyroxine infusions in a case of fetal goiter due to novel gene variants.

作者信息

Pollé Olivier G, Gheldof Alexander, Lysy Philippe A, Bernard Pierre

机构信息

Paediatric Endocrinology Unit Cliniques Universitaires Saint-Luc Brussels Belgium.

Center for Medical Genetics UZ Brussel Brussels Belgium.

出版信息

Clin Case Rep. 2021 Aug 30;9(9):e04565. doi: 10.1002/ccr3.4565. eCollection 2021 Sep.

DOI:10.1002/ccr3.4565
PMID:34484748
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8405428/
Abstract

Indications and administration of intra-amniotic infusions of L-thyroxine in the context of non-immune fetal hypothyroidism with goiter lack of standardization. Systematic follow-up of clinical features related to thyroid hormonal homeostasis may be useful to evaluate their efficiency and develop standardized management guidelines.

摘要

在伴有甲状腺肿的非免疫性胎儿甲状腺功能减退症的情况下，羊膜腔内注射左旋甲状腺素的适应症和给药方法缺乏标准化。对与甲状腺激素稳态相关的临床特征进行系统随访，可能有助于评估其疗效并制定标准化的管理指南。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a0f/8405428/b0533e1bfc0c/CCR3-9-e04565-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a0f/8405428/b0533e1bfc0c/CCR3-9-e04565-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a0f/8405428/b0533e1bfc0c/CCR3-9-e04565-g001.jpg

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Eur J Clin Nutr. 2021 Apr;75(4):689-696. doi: 10.1038/s41430-020-00766-5. Epub 2020 Oct 8.
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First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations.首例因 SLC5A5/NIS 突变导致的胎儿甲状腺肿性甲状腺功能减退症。
Eur J Endocrinol. 2020 Nov;183(5):K1-K5. doi: 10.1530/EJE-20-0255.
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Defects in protein folding in congenital hypothyroidism.先天性甲状腺功能减退症中的蛋白质折叠缺陷。
Mol Cell Endocrinol. 2020 Feb 5;501:110638. doi: 10.1016/j.mce.2019.110638. Epub 2019 Nov 18.
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