家族性低钾性周期性麻痹:并发甲状腺功能亢进症诱发的一个病例。

IF 2.2 4区 医学 Q2 UROLOGY & NEPHROLOGY
Zein Alabdin Hannouneh, C Elena Cervantes, C John Sperati, Mohamad Hanouneh
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引用次数: 0

摘要

背景:家族性低钾周期性麻痹(HypoPP)是一种不常见的遗传性疾病,其特征是反复发作的肌无力和低钾血症,通常从成年早期开始。甲状腺功能亢进症与甲状腺毒性周期性麻痹(TPP)的诊断关联性更强,大多数病例发生在具有致病性 KCNJ2 或 KCNJ18 变体且无家族病史的亚洲男性身上。本病例是一个新病例,因为它同时合并了家族性甲状腺功能减退症和由巴塞杜氏病诱发的甲状腺功能亢进症,这在非亚洲人群中尤其罕见:一名40岁的非裔美国男子在进食高盐食物后出现肌肉无力。他有明显的甲状腺功能亢进症和低钾血症家族史。经检查,他四肢无力。实验室检查证实他患有低钾血症和甲状腺功能亢进症,基因检测发现他的 CACNA1S 基因存在致病变异(c.1583 G > A, p. R528H),而 SCN4A、KCNJ2 和 KCNJ18 测序正常。他被诊断为家族性甲状腺功能减退症和巴塞杜氏病引起的甲状腺功能亢进。他开始服用甲巯咪唑 10 毫克,一天三次;乙酰唑胺 250 毫克,一天两次。建议他遵循低碳水化合物和低盐饮食:本病例强调,即使存在甲状腺功能亢进症,有家族史的患者也必须考虑甲状腺功能减退症的遗传基础。家族性甲状腺功能减退症和巴塞杜氏病并存的情况非常罕见,这也强调了对类似病例进行仔细的遗传和临床评估的必要性。治疗重点应放在纠正低钾血症、治疗甲状腺功能亢进症和改变生活方式以防止复发上。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism.

Background: Familial hypokalemic periodic paralysis (HypoPP) is an uncommon genetic disorder characterized by recurrent episodes of muscle weakness and hypokalemia, typically starting in early adulthood. The existence of hyperthyroidism in the presence of HypoPP is more strongly associated with a diagnosis of thyrotoxic periodic paralysis (TPP), with most cases occurring in Asian males with pathogenic KCNJ2 or KCNJ18 variants and without a family history of the condition. This case is novel due to the combination of familial HypoPP and hyperthyroidism induced by Graves' disease, a rare occurrence especially in non-Asian populations.

Case presentation: A 40-year-old African American man presented with profound muscle weakness after consuming a high-salt meal. He had a significant family history of hyperthyroidism and hypokalemia. On examination, he showed profound weakness in all extremities. Laboratory tests confirmed hypokalemia and hyperthyroidism, and genetic testing identified a pathogenic variant in the CACNA1S gene (c.1583 G > A, p. R528H), with normal SCN4A, KCNJ2 and KCNJ18 sequencing. He was diagnosed with familial HypoPP and hyperthyroidism due to Graves' disease. He was started on PO methimazole 10 mg three times a day and PO acetazolamide 250 mg twice a day. He was advised to follow a low carbohydrate and low salt diet.

Conclusions: This case highlights the importance of considering a genetic basis for HypoPP in patients with a family history of the condition, even when hyperthyroidism is present. The combination of familial HypoPP and Graves' disease is rare and emphasizes the need for careful genetic and clinical evaluation in similar cases. Management should focus on correcting hypokalemia, treating hyperthyroidism, and lifestyle modifications to prevent recurrence.

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来源期刊
BMC Nephrology
BMC Nephrology UROLOGY & NEPHROLOGY-
CiteScore
4.30
自引率
0.00%
发文量
375
审稿时长
3-8 weeks
期刊介绍: BMC Nephrology is an open access journal publishing original peer-reviewed research articles in all aspects of the prevention, diagnosis and management of kidney and associated disorders, as well as related molecular genetics, pathophysiology, and epidemiology.
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