目的:Satoyoshi综合征(SS)是一种罕见的多系统疾病,推测其自身免疫病因。我们进行了系统评价,以评估支持自身免疫假说的现有证据。
方法:我们在PubMed中搜索SS病例,截至2022年1月,使用关键词“Satoyoshi综合征”或“Komuragaeri疾病”。症状数据,相关的自身免疫性疾病,收集自身抗体的存在和对治疗的反应。
结果:纳入了1967年至2021年发表的57篇文章中的77例患者。59名患者为女性。诊断时的平均年龄为21.2岁。所有病例都有痛苦的肌肉痉挛和脱发。常见表现包括:腹泻,吸收不良,生长迟缓,闭经和骨畸形。SS与其他自身免疫性疾病相关:重症肌无力,自身免疫性甲状腺炎,特发性血小板减少性紫癜,特应性皮炎,支气管和红斑狼疮。对39例患者进行了自身抗体测定,其中27人取得了积极成果。最常见的自身抗体是抗核抗体。其他较不常见的自身抗体是:抗乙酰胆碱受体抗体,抗DNA抗体,抗甲状腺抗体,抗GAD和抗麦醇溶蛋白抗体。50例患者报告了药物治疗。他们大多数用皮质类固醇改善,免疫抑制剂和免疫球蛋白,或这些药物的组合。
结论:SS与其他自身免疫性疾病和多种自身抗体有关。在90%的病例中观察到皮质类固醇或其他免疫抑制剂治疗后的改善。这些数据支持SS的自身免疫性病因。更多的研究,包括系统测定所有SS患者的自身抗体,将有助于我们进一步了解这种疾病。
Satoyoshi syndrome is a rare multisystem disease of presumed autoimmune aetiology. We carried out a systematic review to evaluate the available evidence to support that autoimmune hypothesis.
We searched for Satoyoshi syndrome cases in PubMed, the Web of Science and Scopus up to January 2022, using keywords \'Satoyoshi syndrome\' or \'Komuragaeri disease\'. Data on symptoms, associated autoimmune diseases, presence of autoantibodies and response to treatment were collected.
A total of 77 patients from 57 articles published between 1967 and 2021 were included; 59 patients were women. The mean age at diagnosis was 21.2 years. All cases had painful muscular spasms and alopecia. Frequent manifestations included: diarrhoea, malabsorption, growth retardation, amenorrhoea and bone deformity. Satoyoshi syndrome was associated with other autoimmune diseases: myasthenia gravis, autoimmune thyroiditis, idiopathic thrombocytopenic purpura, atopic dermatitis, bronchial and lupus erythematosus. Autoantibody determinations were performed in 39 patients, of which 27 had positive results. The most frequently detected autoantibodies were ANAs. Other less frequently found autoantibodies were: anti-acetylcholine receptor antibodies, anti-DNA antibodies, antithyroid antibodies, anti-glutamic acid decarboxylase (anti-GAD) and anti-gliadin antibodies. Pharmacological treatment was reported in 50 patients. Most of them improved with CS, immunosuppressants and immunoglobulins, or a combination of these medications.
Satoyoshi syndrome is associated with other autoimmune diseases and a variety of autoantibodies. Improvement after CS or other immunosuppressant treatment was observed in 90% of cases. These data support an autoimmune aetiology for Satoyoshi syndrome. More studies including systematic determination of autoantibodies in all patients with Satoyoshi syndrome will help us advance in our understanding of this disease.