1例印度青少年自身免疫性多内分泌病综合征-1的严重COVID-19疾病

C. Oza, M. Karguppikar, V. Khadilkar, A. Khadilkar
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引用次数: 1

摘要

自身免疫性多腺体综合征-1 (APS-1)又称自身免疫性多内分泌病念珠菌病外胚层营养不良症,是一种罕见的常染色体隐性遗传病,由21q22.3染色体AIRE基因突变引起,总体患病率<1:10万。在此,我们报告一位16岁男性,其临床表现为口腔念珠菌病、甲状旁腺功能低下和肾上腺功能不全(AI)。患者出现罕见的内分泌和非内分泌表现,如1型糖尿病(T1D)和自身免疫性肝炎。患者在接受激素替代治疗和免疫抑制剂的同时出现肝硬化和门脉高压,并伴有食管静脉曲张和念珠菌病。随后因咳嗽、感冒、发热等主诉入院,经逆转录-聚合酶链反应法确诊为SARS-CoV-2感染。在26天的ICU住院期间,患者需要吸氧、静脉注射糖皮质激素、瑞德西韦、低分子肝素,并使用收缩性药物支持血流动力学。继续给予皮下胰岛素治疗和硫唑嘌呤治疗。在症状完全缓解和SARS-CoV-2阴性检测后出院,并建议进行放射学和临床随访。报告显示,患有AI或自身免疫的患者患严重COVID的风险不会增加。然而,我们的患者可能不仅由于AI和自身免疫,而且由于T1D和肝硬化引起的高血糖等相关罕见表现而发展为严重的COVID。因此,良好的血糖控制和耐受性良好的现代免疫抑制剂治疗可能有助于改善APS-1患者重症COVID-19疾病的预后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Severe COVID-19 illness in an Indian adolescent with autoimmune polyendocrinopathy syndrome-1
Autoimmune polyglandular syndrome-1 (APS-1)also known as autoimmune polyendocrinopathy candidiasis ectodermal dystrophy is a rare autosomal recessive disorder caused by mutation of AIRE gene on chromosome 21q22.3 with an overall prevalence of <1:100,000. Here, we present a 16-year-old male having clinical history of evolution of symptoms for oral candidiasis, hypoparathyroidism, and adrenal insufficiency (AI). He developed rare endocrine and non-endocrine manifestations such as type-1 diabetes (T1D) and autoimmune hepatitis, respectively. The patient while on hormone replacement therapy along with immunosuppressants developed liver cirrhosis and portal hypertension with esophageal varices and candidiasis. Subsequently, he was admitted for complaints of cough, cold and fever and was confirmed to be affected by SARS-CoV-2 by reverse transcription-polymerase chain reaction method. In his prolonged ICU stay of 26 days, he required oxygen therapy, intravenous glucocorticoids, remdesivir, low molecular weight heparin, and hemodynamic support with inotropes. His medical management with subcutaneous insulin therapy and azathioprine was continued. He was discharged after complete resolution of symptoms and negative tests for SARS-CoV-2 and was advised radiological and clinical follow-up. Reports suggest that risk of severe COVID does not increase in patients with AI or autoimmunity. However, our patient possibly developed severe COVID not only due to AI and autoimmunity but also associated rare manifestations like hyperglycemia due to T1D and cirrhosis. Thus, good glycemic control and well-tolerated modern immunosuppressant therapy may be useful in improving prognosis of severe COVID-19 illness in patients with APS-1.
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