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1型自身免疫性多腺体综合征:一名有呼吸道表现的16岁亚洲女性患者的罕见病例报告。

Autoimmune Polyglandular Syndrome Type 1: A Report of Rare Case of a 16-Year-Old Asian Female Patient With Respiratory Manifestations.

作者信息

Zainab Kaneez, Munir Mishaal, Cheema Asfand Yar, Qureshi Muhammad Hamza, Bisharat Pakeezah

机构信息

Internal Medicine, Mayo Hospital, Lahore, PAK.

Medicine, Ghurki Trust Teaching Hospital, Lahore, PAK.

出版信息

Cureus. 2022 Sep 3;14(9):e28741. doi: 10.7759/cureus.28741. eCollection 2022 Sep.

Abstract

Autoimmune Polyglandular Syndrome (APS) spans three types of autoimmune disorders, categorized as APS type 1, type 2, and type 3. APS type 1 (APS-1) is the rarest type of the three. Complications of APS-1 can affect the bones, joints, skin, nails, gonads, eyes, thyroid, and several internal organs. We report a case of APS-1 in a 16-year-old female patient, who presented with complaints of oral thrush, tingling and numbness in her peripheries, and rash with multiple patches on the whole body with an infection of the nails, all around the age of 11 years, progressively worsening with time. In the next two years, she developed a bilateral decrease in visual acuity and dryness of the eyes as well as seizures, which have previously been seen in APS-1 patients. Laboratory results revealed hypocalcemia and hypoparathyroidism, but normal morning cortisol. Her mucocutaneous candidiasis and hypoparathyroidism fulfilled the criteria required for diagnosing APS-1. Her case, however, was made unique by her respiratory manifestations of frequent respiratory tract infections, which started around the age of 15 years, with a high-resolution CT scan (HRCT) revealing bronchiectasis, not commonly found amongst APS-1 patients. She was prescribed antibiotics for her respiratory tract infection exacerbations, oral calcium, vitamin D supplements, oral fluconazole, as well as an extensive eye care regimen. We report this case to add to the knowledge of this rare disease and look at its usual as well as unusual manifestations.

摘要

自身免疫性多腺体综合征(APS)涵盖三种自身免疫性疾病类型,分为1型、2型和3型。1型自身免疫性多腺体综合征(APS-1)是这三种类型中最罕见的。APS-1的并发症可影响骨骼、关节、皮肤、指甲、性腺、眼睛、甲状腺和多个内脏器官。我们报告一例16岁女性APS-1患者,该患者在11岁左右开始出现口腔念珠菌感染、四肢刺痛和麻木,以及全身多处皮疹伴指甲感染,且病情随时间逐渐加重。在接下来的两年里,她出现了双眼视力下降、眼睛干涩以及癫痫发作,这些情况在APS-1患者中也曾出现过。实验室检查结果显示低钙血症和甲状旁腺功能减退,但早晨皮质醇水平正常。她的黏膜皮肤念珠菌病和甲状旁腺功能减退符合诊断APS-1所需的标准。然而,她的病例具有独特性,因为她在15岁左右开始出现频繁呼吸道感染的呼吸系统表现,高分辨率CT扫描(HRCT)显示支气管扩张,这在APS-1患者中并不常见。针对她呼吸道感染加重的情况,为她开具了抗生素、口服钙剂、维生素D补充剂、口服氟康唑以及一套全面的眼部护理方案。我们报告这个病例是为了增加对这种罕见疾病的认识,并观察其常见和不寻常的表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a14a/9440682/055650378161/cureus-0014-00000028741-i01.jpg

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