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甲状腺功能减退症患儿罕见的内分泌急症:黏液性水肿昏迷病例的临床评估

A Rare Endocrinological Emergency in Children with Hypothyroidism: Clinical Evaluation of Cases Presenting with Myxedema Coma.

作者信息

Çetin Kürşat, Donbaloğlu Zeynep, Bahar Yasemin Funda, Karakurum Aslıhan, Kendir Özlem Tolu, Tuhan Hale, Parlak Mesut

机构信息

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

Department of Pediatric Emergency, Akdeniz University Hospital, Antalya, Türkiye.

出版信息

Turk Arch Pediatr. 2025 Sep 1;60(5):474-482. doi: 10.5152/TurkArchPediatr.2025.25061.

Abstract

Objective: Myxedema coma (MC) is a severe and rare clinical form of hypothyroidism that causes multiple organ failure and altered consciousness. The aim of reporting this case series is to evaluate the clinical presentation, diagnostic findings, and outcomes in pediatric patients diagnosed with MC. Materials and Methods: This article presents a case series of 8 patients diagnosed with MC between January 1, 2020, and October 31, 2024, at pediatric endocrinology department of the authors' hospital. The clinical and laboratory data of the cases were obtained from the hospital records system, and the cases were scored using the diagnostic scoring system for MC. Results: The mean age was 10.36 ± 3.56 years, with a male-to-female ratio of 1:3. Four of the patients were diagnosed with hypothyroidism upon admission with MC, while the remaining 4 had a history of hypothyroidism but presented with MC due to non-compliance with treatment. The majority of patients presented with edema, rapid weight gain, lethargy, and other symptoms of hypothyroidism. Six patients had Hashimoto's thyroiditis, 1 had thyroid hypoplasia, and 1 had thyroid aplasia. Laboratory tests revealed severely elevated thyroid-stimulating hormone (TSH) and low free thyroxine (fT4) and free triiodothyronine (fT3) levels. Six patients had elevated CK and myoglobin levels, indicating secondary rhabdomyolysis. Following levothyroxine (LT4) therapy, significant improvements were observed in muscle strength, thyroid function, and other clinical parameters. None of the patients required intensive care, and all recovered with 100% survival rate. Conclusion: Early diagnosis and appropriate thyroid hormone replacement therapy are crucial for reversing the metabolic abnormalities and preventing life-threatening complications. This study highlights the importance of timely intervention and emphasizes the need for strict adherence to thyroid hormone therapy in children with hypothyroidism.

摘要

目的

黏液性水肿昏迷(MC)是甲状腺功能减退症的一种严重且罕见的临床形式,可导致多器官功能衰竭和意识改变。报告该病例系列的目的是评估诊断为MC的儿科患者的临床表现、诊断结果及预后。

材料与方法

本文介绍了作者所在医院儿科内分泌科在2020年1月1日至2024年10月31日期间诊断为MC的8例患者的病例系列。病例的临床和实验室数据从医院记录系统中获取,并使用MC诊断评分系统对病例进行评分。

结果

平均年龄为10.36±3.56岁,男女比例为1:3。4例患者在因MC入院时被诊断为甲状腺功能减退症,其余4例有甲状腺功能减退症病史,但因未遵医嘱治疗而出现MC。大多数患者出现水肿、体重迅速增加、嗜睡及其他甲状腺功能减退症状。6例患者患有桥本甲状腺炎,1例有甲状腺发育不全,1例有甲状腺缺如。实验室检查显示促甲状腺激素(TSH)严重升高,游离甲状腺素(fT4)和游离三碘甲状腺原氨酸(fT3)水平降低。6例患者肌酸激酶(CK)和肌红蛋白水平升高,提示继发性横纹肌溶解。左甲状腺素(LT4)治疗后,肌肉力量、甲状腺功能及其他临床参数有显著改善。所有患者均无需重症监护,全部康复,生存率达100%。

结论

早期诊断和适当的甲状腺激素替代治疗对于逆转代谢异常和预防危及生命的并发症至关重要。本研究强调了及时干预的重要性,并强调甲状腺功能减退症患儿严格遵医嘱进行甲状腺激素治疗的必要性。

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