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甲状旁腺功能减退伴完全性内脏转位:一例报告。

Hypoparathyroidism with situs inversus totalis: A case report.

作者信息

Yang Mao, Pu Sheng-Lan, Li Ling, Ma Yu, Qin Qin, Wang Yan-Xia, Huang Wen-Long, Hu Hong-Ya, Zhu Mei-Feng, Li Chun-Zhu

机构信息

Department of General Medicine, First People's Hospital of Zunyi (Third Affiliated Hospital of Zunyi Medical University), Zunyi 563000, Guizhou Province, China.

Department of Nutrition, First People's Hospital of Zunyi (Third Affiliated Hospital of Zunyi Medical University), Zunyi 563000, Guizhou Province, China.

出版信息

World J Radiol. 2024 Oct 28;16(10):561-568. doi: 10.4329/wjr.v16.i10.561.

Abstract

BACKGROUND

Hypoparathyroidism (HP) is a rare endocrine disorder, while situs inversus totalis (SIT) is a rare condition in which the internal organs are positioned in a mirrored pattern compared to their usual positions. This case illustrates some potential shared mechanisms between HP and SIT, highlighting the importance of accurate identification and prompt first emergency, offering insights for future research.

CASE SUMMARY

This report discusses a case of a middle-aged patient with adolescent-onset HP with concurrent SIT. The patient experienced recurrent episodes of increased neuromuscular excitability (manifesting as spasms in the hands and feet and laryngospasms) and even periods of unconsciousness. Initially, these symptoms led to a misdiagnosis of epilepsy. Nevertheless, upon thorough examination and treatment in the general medicine ward, the correct diagnosis was established. Corresponding treatment resulted in improved management of the patient's symptoms.

CONCLUSION

Co-occurrence of HP and SIT may be associated with genetic mutations, chromosomal anomalies, or hereditary factors, as may other similar conditions.

摘要

背景

甲状旁腺功能减退症(HP)是一种罕见的内分泌疾病,而全内脏反位(SIT)是一种罕见的情况,其中内脏器官的位置与正常位置呈镜像模式。本病例说明了HP和SIT之间一些潜在的共同机制,强调了准确识别和及时进行首次急救的重要性,为未来的研究提供了见解。

病例摘要

本报告讨论了一例中年患者,青少年期发病的HP并伴有SIT。患者经历了神经肌肉兴奋性增加的反复发作(表现为手足痉挛和喉痉挛),甚至出现昏迷期。最初,这些症状导致误诊为癫痫。然而,在普通内科病房进行全面检查和治疗后,确诊得以确立。相应的治疗使患者症状得到了更好的控制。

结论

HP和SIT的同时出现可能与基因突变、染色体异常或遗传因素有关,其他类似情况也可能如此。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4dce/11525822/90fac523668c/WJR-16-561-g001.jpg

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