A Case Report of Fatal Mucormycosis in a 30-Year-Old Patient with Autoimmune Polyendocrine Syndrome Type 1.
A Case Report of Fatal Mucormycosis in a 30-Year-Old Patient with Autoimmune Polyendocrine Syndrome Type 1.
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1 例 30 岁自身免疫性多内分泌综合征 1 型患者致命性毛霉菌病病例报告。
DOI：
10.1007/s10875-022-01226-4
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发表时间：
2022
影响因子：
9.1
通讯作者：
Lionakis,MichailS
中科院分区：
文献类型：
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作者：
Rosenberg,JacobM;Villalba,JulianA;Ferrè,EliseMN;Mansour,MichaelK;Lionakis,MichailS
病例报告：一名30岁女性，有自身免疫性多内分泌综合征1型（APS-1）病史，由纯合子c。AIRE基因967_979del缺失，因发热就诊于本院。该患者有慢性粘膜皮肤念珠菌病（CMC）、甲状旁腺功能减退症（钙补充）、甲状腺功能减退症（左旋甲状腺素）、自身免疫性肝炎（硫唑嘌呤）和肠道吸收不良病史，这些疾病的发生频率在APS-1患者中为40 - 80%[1]。肾上腺功能不全检查呈阴性。病人在出现发热、呕吐、腹泻和上腹痛之前一直处于正常健康状态。她到急诊科就诊，在那里她需要液体复苏、短暂的加压支持和插管。病人开始使用广谱抗生素，血培养培养出泛敏感性大肠杆菌。杆菌作为休克经验性治疗的一部分，她接受了6天的应激剂量皮质类固醇（每6小时50 mg氢化可的松）。她的白色血细胞（WBC）计数低，为0.6（千细胞/微升），伴有条带和裂细胞
Case Report A 30-year-old (age approximated for confidentiality) woman with a history of autoimmune polyendocrine syndrome type 1 (APS-1), caused by the homozygous c. 967_979del deletion in the AIRE gene, presented to this hospital with fever. The patient had a history of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism on calcium repletion, hypothyroidism on levothyroxine, autoimmune hepatitis on azathioprine, and intestinal malabsorption, which can each occur in frequencies ranging from 40 to 80% of APS-1 patients [1]. Testing for adrenal insufficiency was negative.The patient was in her usual state of health until she developed fever, vomiting, diarrhea, and epigastric pain. She presented to the emergency department, where she required fluid resuscitation, brief pressor support, and intubation. The patient was started on broad-spectrum antibiotics, and blood cultures grew pan-susceptible E. coli. As part of empiric treatment for shock, she received 6 days of stress-dose corticosteroids (50 mg hydrocortisone every 6 h). Her white blood cell (WBC) count on presentation was low at 0.6 (thousand cells per microliter) with bands and schistocytes