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指定難病 — No.53

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検索語 Sjogren Syndrome ・ 最終更新 2026-07-21 18:32 ・ 最新に更新

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指定 No.53
Src PubMed · CT.gov · jRCT

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( 01 )EVIDENCE / PUBMED · 5件

世界の論文

直近の研究を、やさしい日本語で

各論文の見出しにある「確からしさ」は、その研究がどれくらい信頼できるかの目安です。「理論段階」はまだ仮説に近く、下にいくほど多くの患者で検証されていて、「メタ解析」がもっとも信頼できます。

不明
MK-01 · PMID 42478789

Fever, lymphadenopathy, and a diagnostic dilemma: a case of Kikuchi-Fujimoto disease masquerading as tuberculosis in a diabetic patient

Abstract / 原文

Kikuchi-Fujimoto disease is a rare, self-limiting autoimmune necrotizing lymphadenitis that poses unique diagnostic challenges due to vague, overlapping clinical and laboratory features with numerous important and common differential diagnoses. Accurate diagnosis is needed to avoid unnecessary and unwanted treatment. Herein, we report a unique case of a middle-aged diabetic man from South India presenting with prolonged fever, significant weight loss, and generalized lymphadenopathy. Laboratory findings revealed leukopenia, markedly elevated inflammatory markers, and a moderately positive antinuclear antibody titer, raising immediate concern for systemic lupus erythematosus. Results of an extensive infectious workup, including tuberculosis testing, were negative. The definitive diagnosis was established by lymph node biopsy demonstrating necrotizing lymphadenitis with karyorrhectic debris and crescentic histiocytes, without caseating granulomas or hematoxylin bodies. This case underscores the need for early lymph node biopsy in tuberculosis-endemic settings to avoid misdiagnosis and inappropriate antitubercular therapy and also highlights the emerging association between Kikuchi-Fujimoto disease and autoimmune serological markers.

Journal
Proceedings (Baylor University. Medical Center)(2026 May)
Authors
6名
Type
Journal Article
PubMedで原文を見る
観察研究
MK-02 · PMID 42477932

[Analysis of clinical characteristics of patients with thyroid cancer complicated by connective tissue disease]

Abstract / 原文

Objective: To explore the clinical characteristics and prognosis of patients with thyroid cancer complicated by connective tissue disease. Methods: A retrospective analysis was conducted on the clinical data of 70 patients with thyroid cancer complicated by connective tissue disease who were admitted to the Cancer Hospital, Chinese Academy of Medical Sciences from May 30, 2006, to April 30, 2024 and telephone follow-up was performed. Results: Among the 70 patients with thyroid cancer complicated by connective tissue disease, 68 cases (97.1%, 68/70) had papillary thyroid carcinoma, and 2 (2.9%, 2/70) had medullary thyroid carcinoma; 67 cases (95.7%, 67/70) were female. The age at diagnosis of thyroid cancer was (48.73±11.74) years, and the median interval from connective tissue disease diagnosis to thyroid cancer diagnosis was 7 years (range, 3 to 12 years). Among them, there were 29 cases (41.4%, 29/70) of rheumatoid arthritis, 24 cases (34.3%, 24/70) of Sjögren's syndrome, 12 cases (17.1%, 12/70) of systemic lupus erythematosus, 3 cases (4.3%, 3/70) of systemic sclerosis, and 2 cases (2.9%, 2/70) of dermatomyositis. The stages of thyroid cancer were stage Ⅰ in 55 cases (78.6%, 55/70), stage Ⅱ in 11 cases (15.7%, 11/70), stage Ⅲ in 1 case (1.4%, 1/70), and unknown in 3 cases (4.3%, 3/70). Multifocality was observed in 37 cases (52.9%,37/70), capsular invasion in 46 (65.7%,46/70) cases, perineural invasion in 1 (1.4%,1/70) case, and lymphovascular invasion in 3 (4.3%,3/70) cases. The median follow-up time was 73.50 months (range, 20.9 to 235.0 months). Six patients were lost to follow-up, one patient died of COVID-19 and the remaining 63 patients (98.4%, 63/64) did not experience recurrence or metastasis. Conclusions: Patients with thyroid cancer complicated by connective tissue disease are mostly female, and the predominant pathological type is papillary thyroid carcinoma. Most patients are diagnosed at an early stage. No recurrence or metastasis was observed during follow-up,and further confirmation by large-sample studies is needed.

Journal
Zhonghua zhong liu za zhi [Chinese journal of oncology](2026 Jul)
Authors
5名
Type
English Abstract, Journal Article
PubMedで原文を見る
観察研究
MK-03 · PMID 42468897

Risk of Incident Dry Eye Disease Among Patients with Chronic Pain Conditions

Abstract / 原文

OBJECTIVE: To evaluate whether chronic pain conditions (CPCs) are associated with increased risk of incident dry eye disease (DED) and prescription-requiring DED in a large electronic health record network. DESIGN: Retrospective cohort study. SUBJECTS, PARTICIPANTS, AND/OR CONTROLS: Adults aged 18 years or older in the TriNetX Analytics Network (2005-2025) with a qualifying ophthalmology examination and no prior DED diagnosis. The exposure cohort included patients with at least one CPC diagnosis before the index visit; controls had no CPC diagnoses before or after the index visit. After 1:1 propensity score-matching, 538,364 patients were included per cohort. A validation cohort restricted to patients with age-related cataract included 506,763 matched patients per group. METHODS: Patients were identified using ICD-10-CM, SNOMED, and CPT codes. Propensity score matching balanced demographics and comorbidities. Two outcomes were assessed at 1, 2, and 3 years after the index visit: incident DED, defined by a new diagnosis of dry eye syndrome or keratoconjunctivitis sicca not specified as Sjögren's, and prescription-requiring DED, defined by initiation of topical cyclosporine or lifitegrast. Risk ratios with 95% confidence intervals were calculated. Time-to-event analyses used Kaplan-Meier curves and multivariable Cox proportional hazards models. MAIN OUTCOME MEASURES: Incident DED and prescription-requiring DED. RESULTS: Patients with at least one CPC diagnosis had significantly higher risk of incident DED compared with controls at all follow-up intervals. At 1 year, incident DED occurred in 3.34% of the CPC cohort versus 0.72% (RR 4.64; 95% CI, 4.49-4.81; p<0.0001). At 3 years, cumulative incidence increased to 7.16% versus 1.50% (RR 4.78; 95% CI, 4.66-4.89; p<0.0001). Prescription-requiring DED was also more common in the CPC cohort at 3 years (0.79% vs 0.30%; RR 2.60; 95% CI, 2.45-2.75). In multivariable Cox regression, CPCs were independently associated with increased hazard of incident DED (hazard ratio 4.85; 95% CI, 4.76-4.94; p<0.0001). Findings were consistent in the validation cohort. CONCLUSIONS: CPCs are strongly associated with an increased risk of incident and prescription-requiring DED. These findings support consideration of CPCs as risk factors in the evaluation and management of DED and suggest that a subset of patients with DED may reflect broader pain-processing abnormalities.

Journal
American journal of ophthalmology(2026 Jul)
Authors
6名
Type
Journal Article
PubMedで原文を見る
観察研究
MK-04 · PMID 42465525

Autoimmunity and peginterferon therapy for polycythemia vera

Abstract / 原文

Peginterferon‑α is useful to treat myeloproliferative neoplasms (MPNs) but can precipitate broad autoimmunity. By promoting beta-cell, thyroid, and systemic immune injury, it can lead to Type 1 diabetes, autoimmune thyroiditis, systemic lupus erythematosus, or Sjögren's syndrome. Onset typically occurs within the first months but may be delayed until after treatment cessation. Type 1 diabetes is usually irreversible and requires lifelong therapy, whereas thyroiditis and lupus more often improve after interferon withdrawal, though autoantibodies frequently persist. In this narrative review, we provide an overview of how peginterferon can induce autoimmunity in genetically susceptible individuals with pre-existing subclinical autoimmunity. Pre-treatment risk assessment, including personal/family history of autoimmune disease and consideration of baseline thyroid function and anti-GAD antibodies in high-risk patients, may identify those at elevated risk for irreversible complications, particularly Type 1 diabetes. Targeted clinical and laboratory monitoring throughout therapy and for 12-24 months post-cessation can enable early detection and appropriate intervention.

Journal
HemaSphere(2026 Jul)
Authors
9名
Type
Journal Article, Review
PubMedで原文を見る
観察研究
MK-05 · PMID 42464379

Clinical and genetic analysis of patients with Sjögren-Larsson syndrome in China

Abstract / 原文

OBJECTIVE: To characterize the clinical features and genetic spectrum of Chinese patients with Sjögren-Larsson syndrome (SLS). METHODS: We retrospectively reviewed genetically confirmed SLS cases managed in the Functional Neurosurgery Department of Beijing Children's Hospital. We also searched Chinese- and English-language databases to identify additional SLS cases for comparative analysis. Structural effects of detected variants on fatty aldehyde dehydrogenase (FALDH) were explored using PDB-derived models and PyMOL. RESULTS: Three SLS patients were identified, including one carrying a novel variant not previously reported. Literature review yielded 19 additional Chinese cases. Globally, SLS has a broad distribution, with the highest case counts reported in the United States, Sweden, and China. Compared with cohorts from other countries, Chinese patients showed a higher proportion of females, and compound heterozygous variants were more frequent than homozygous variants. The c.1157A > G substitution emerged as the most common variant in Chinese SLS. Three-dimensional modeling suggested that several variants likely perturb FALDH conformation. CONCLUSION: Chinese SLS patients exhibit distinctive clinical and genetic patterns relative to other populations, with c.1157A > G being the most frequent variant. Structural modeling supports a potential conformational impact of these variants on FALDH.

Journal
Orphanet journal of rare diseases(2026 Jul)
Authors
10名
Type
Journal Article
PubMedで原文を見る
( 02 )TRIALS / JAPAN · 0件

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現在 募集中のもの

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( 03 )REGISTRY / jRCT

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上の一覧は ClinicalTrials.gov の一部です。日本国内の治験の多くは、日本の公式レジストリ jRCT にのみ登録されています。下記から最新の全件をご確認ください。

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