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五例碘浓缩机制缺失的病例。

Five cases of absence of iodide concentrating mechanism.

作者信息

Toyoshima K, Matsumoto Y, Nishida M, Yabuuchi H

出版信息

Acta Endocrinol (Copenh). 1977 Mar;84(3):527-37. doi: 10.1530/acta.0.0840527.

DOI:10.1530/acta.0.0840527
PMID:576528
Abstract

Five cases, 2 males and 3 females, with absence of iodide concentrating mechanism are reported. Three of the five subjects are siblings and the eldest sister has no symptom to account for the cretinism. All 5 cases have improved clinically following the administration of potassium iodide and 4 cases are still in a euthyroid state without any adverse effects during a half to more than 4 years. This study suggests that the absence of iodide concentrating mechanism might be erroneously diagnosed as athyroidal cretinism or adolescent non-toxic diffuse goitre, and may at times not show any clinical symptoms.

摘要

本文报告了5例无碘浓缩机制的患者,其中男性2例,女性3例。5例患者中有3例为兄弟姐妹,大姐无克汀病症状。所有5例患者在服用碘化钾后临床症状均有改善,4例患者在半年至4年多的时间里仍处于甲状腺功能正常状态,且无任何不良反应。本研究表明,无碘浓缩机制可能被误诊为甲状腺性克汀病或青少年非毒性弥漫性甲状腺肿,且有时可能不表现出任何临床症状。

相似文献

1
Five cases of absence of iodide concentrating mechanism.五例碘浓缩机制缺失的病例。
Acta Endocrinol (Copenh). 1977 Mar;84(3):527-37. doi: 10.1530/acta.0.0840527.
2
CONGENITAL GOITROUS CRETINISM DUE TO THE ABSENCE OF IODIDE-CONCENTRATING ABILITY.由于缺乏碘浓缩能力导致的先天性甲状腺肿型克汀病。
J Clin Endocrinol Metab. 1964 Aug;24:699-707. doi: 10.1210/jcem-24-8-699.
3
Partial defect of iodide trapping mechanism in two siblings with congenital goiter and hypothyroidism.两名患有先天性甲状腺肿和甲状腺功能减退症的同胞中碘摄取机制的部分缺陷。
J Clin Endocrinol Metab. 1972 Sep;35(3):370-7. doi: 10.1210/jcem-35-3-370.
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Familial goiter due to an organification defect in euthyroid siblings.正常甲状腺功能的同胞中因有机化缺陷导致的家族性甲状腺肿。
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Pendred syndrome and iodide transport in the thyroid.彭德莱德综合征与甲状腺中的碘转运
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Diagnosis of iodide transport defect: do we need to measure the saliva/serum radioactive iodide ratio to diagnose iodide transport defect?碘转运缺陷的诊断:我们是否需要测量唾液/血清放射性碘比值来诊断碘转运缺陷?
Thyroid. 2010 Dec;20(12):1419-21. doi: 10.1089/thy.2010.0069. Epub 2010 Nov 7.

引用本文的文献

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Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges.原发性先天性甲状腺功能减退症的遗传学:三十年的发现与持续存在的病因挑战
Eur Thyroid J. 2025 Mar 28;14(2). doi: 10.1530/ETJ-24-0348. Print 2025 Apr 1.
2
An extremely high dietary iodide supply forestalls severe hypothyroidism in Na/I symporter (NIS) knockout mice.极高的膳食碘供应可预防钠/碘同向转运体(NIS)敲除小鼠的严重甲状腺功能减退症。
Sci Rep. 2017 Jul 13;7(1):5329. doi: 10.1038/s41598-017-04326-z.
3
Molecular characterization of V59E NIS, a Na+/I- symporter mutant that causes congenital I- transport defect.
V59E钠碘同向转运体(NIS)的分子特征分析,该突变体导致先天性碘转运缺陷。
Endocrinology. 2008 Jun;149(6):3077-84. doi: 10.1210/en.2008-0027. Epub 2008 Mar 13.
4
Congenital hypothyroidism from complete iodide transport defect: long-term evolution with iodide treatment.完全性碘转运缺陷所致先天性甲状腺功能减退症:碘治疗的长期演变
Postgrad Med J. 1987 Dec;63(746):1043-7. doi: 10.1136/pgmj.63.746.1043.