关键词: Autoimmune polyglandular syndrome (APS) Case report Myasthenia gravis Type 2

来  源:   DOI:10.1016/j.amsu.2021.102575   PDF(Sci-hub)   PDF(Pubmed)

Abstract:
UNASSIGNED: Myasthenia gravis is an organ specific autoimmune disorder that is potentially serious but treatable. It is characterized by fatigability of the voluntary muscles and weakness caused by antibodies against the nicotinic acetylcholine receptor (AChR) on the postsynaptic membrane at the neuromuscular junction.Sometimes, and in very rare cases, it can be associated with other autoimmune conditions in a so called autoimmune polyglandular syndrome type 2, which consists mainly of autoimmune adrenal insufficiency (Addison\'s disease) with autoimmune thyroid disease and/or type 1 diabetes mellitus.
UNASSIGNED: We describe a case of a 47-year-old male patient presenting with weakness, difficulty swallowing (mainly liquids) and dysarthria. He was discovered to have low cortisol and TSH levels with high T4 and T3. These findings lead to the suspicion of a more complex disease process and through a thorough research of literature we discovered an association between myasthenia gravis and autoimmune polyglandular syndrome specifically type 2 which fits with our patients\' presentation.
UNASSIGNED: In any autoimmune disease, it is important to keep in mind associations and susceptibilities to other autoimmune processes and syndromes in order to reach a correct diagnosis and treatment preventing life threating events.
摘要:
重症肌无力是一种器官特异性自身免疫性疾病,可能很严重,但可以治疗。它的特征是神经肌肉接头处突触后膜上的抗烟碱乙酰胆碱受体(AChR)的抗体引起的随意肌肉的疲劳和虚弱。有时候,在极少数情况下,它可能与所谓的自身免疫性多腺综合征2型中的其他自身免疫性疾病有关,该综合征主要包括自身免疫性肾上腺功能不全(Addison病)和自身免疫性甲状腺疾病和/或1型糖尿病。
我们描述了一例47岁的男性患者,表现为虚弱,吞咽困难(主要是液体)和构音障碍。他被发现皮质醇和TSH水平低,T4和T3高。这些发现导致对更复杂的疾病过程的怀疑,并且通过对文献的深入研究,我们发现重症肌无力与自身免疫性多腺综合征之间的关联,特别是2型,与我们的患者表现相符。
在任何自身免疫性疾病中,重要的是要牢记与其他自身免疫过程和综合征的关联和敏感性,以达到正确的诊断和治疗预防生命威胁事件。
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