制度・支援
指定難病 — No.75

クッシング病

検索語 Cushing Disease ・ 最終更新 2026-09-18 13:58 ・ 最新に更新

Data Sheet
指定 No.75
Src PubMed · CT.gov · jRCT

これは医療アドバイスではありません。診断・治療の判断は必ず主治医にご相談ください。論文や治験は「今わかっている研究の状況」を示すもので、効果を保証するものではありません。

( 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。

システマティックレビュー/メタ解析
MK-01 · PMID 42753014

機能性下垂体腺腫に対する内側海綿静脈洞壁切除術後の内分泌学的・外科的結果:系統的レビューとメタ解析

Endocrine and surgical outcomes after medial cavernous sinus wall resection for functioning pituitary adenomas: a systematic review and meta-analysis

Abstract / 原文

Functioning pituitary adenomas (FPAs) require both cytoreduction and durable endocrinological remission (ER), which is often limited by occult invasion of the medial cavernous sinus wall. Selective medial cavernous sinus wall resection (MCSWR) has emerged as a targeted approach, but its endocrine benefits and safety profile remain incompletely understood. We synthesize syndrome-specific remission, resection, recurrence, and complication rates after MCSWR in adults with FPAs. We conducted a systematic review and meta-analysis of PubMed, Scopus, and Embase through 2025, including adults with GH-, ACTH-, and prolactin-secreting adenomas who underwent intentional medial cavernous sinus wall resection as described by the original studies and had at least one postoperative endocrine outcome. Two reviewers extracted study- and tumor-level data on resection, ER, recurrence, and complications. Pooled event rates were estimated with random-effects models. Thirteen studies (11 retrospective, 2 prospective) involving 493 patients met inclusion criteria. Among 344 patients with available endocrine follow-up, pooled ER was 85% (95% CI:77-91%), and gross total resection (GTR) was 92% (95% CI:81-97%). Recurrence occurred in 6% (95% CI:3-13%). Subgroup ER rates were 87% for acromegaly, 89% for Cushing's disease, and 78% for prolactinomas, with corresponding GTR rates of 95%, 91%, and 80%. Complications were rare: ICA injury 0%, cranial nerve III and VI palsies 3% each, and postoperative CSF leak 4%. Most studies had a serious or critical risk of bias, mainly due to confounding and single-arm designs. Follow-up ranged from 9 to 30 months in contributing cohorts, with earlier series reporting ranges up to 1-49 months. MCSWR was associated with high reported ER and GTR rates, low reported recurrence, and acceptable morbidity in carefully selected patients with FPAs, particularly somatotroph and corticotroph tumors. However, the evidence mainly comes from high-volume centers and non-comparative series with limited follow-up, highlighting the need for prospective, multicenter studies with standardized endocrine endpoints, histological confirmation, and long-term follow-up.

今の治療への意味この手術は、特定のタイプの腫瘍に対して、腫瘍を取り除きホルモンバランスを改善するのに役立つ可能性が示唆されています。ただし、研究の質や追跡期間には限界があるため、今後の研究が待たれます。

この研究結果は、あくまで過去の複数の研究をまとめたものであり、個々の患者さんに当てはまるかどうかは主治医にご相談ください。治療方針の決定は、必ず主治医とよく話し合って行ってください。

Journal
Neurosurgical review(2026 Sep)
Authors
11名
Type
Journal Article, Systematic Review, Meta-Analysis, Review

過去の13の研究(493人の患者)をまとめたメタ解析です。

PubMedで原文を見る
観察研究
MK-02 · PMID 42750813

MRI画像による診断の二分法を超えて:クッシング病に対する段階的な手術戦略

Beyond the MRI-positive/MRI-negative dichotomy: A stepwise surgical strategy for Cushing's disease

Abstract / 原文

INTRODUCTION: Cushing's disease (CD) has traditionally been approached through a binary paradigm based on MRI findings, distinguishing MRI-positive from MRI-negative cases. However, this dichotomy incompletely reflects the heterogeneity of corticotroph tumors and complexity of intraoperative decision-making. RESEARCH QUESTION: We propose a stepwise surgical strategy that moves beyond this binary stratification by conceptualizing CD as a spectrum integrating imaging, biochemical, and intraoperative findings. METHODS: This retrospective purposefully selected illustrative case series was drawn from a prospective database of 983 patients treated for CD between 2006 and 2025. All underwent mononostril endoscopic transsphenoidal surgery by an expert pituitary surgical team. Seven cases were chosen to illustrate the CD spectrum presentations, including MRI-positive lesions with invasive features, MRI-equivocal findings, and MRI-negative disease. A stepwise algorithm integrating preoperative imaging, functional analysis, and intraoperative findings guided surgical exploration and resection. RESULTS: Seven patients were included. In MRI-visible lesions, targeted adenomectomy was performed, with extension to basal dura or cavernous sinus wall when indicated. In MRI-negative or equivocal cases, exploration was guided by repeat imaging, heterogeneous MRI signal, venous sampling, and/or FET-PET. When tumor tissue was identified, selective or enlarged adenomectomy was performed according to infiltration patterns. Early endocrine remission was achieved in 6 patients, while one patient achieved postoperative eucortisolism. Transient diabetes insipidus was the only postoperative complication. CONCLUSION: CD may be reconsidered beyond a binary MRI-based paradigm, as a spectrum of scenarios. A stepwise surgical strategy better reflects disease heterogeneity and provides a practical framework for surgical decision-making, particularly in MRI-negative or MRI-equivocal cases.

今の治療への意味クッシング病の手術において、MRI画像だけで判断するのではなく、様々な情報を総合的に判断することで、より多くの患者さんで効果的な治療につながる可能性があります。

この研究は少数の症例に基づいています。個々の患者さんへの適用については、必ず主治医にご相談ください。治療方針の決定は、必ず主治医とよく話し合って行ってください。

Journal
Brain & spine(2026)
Authors
11名
Type
Journal Article

7人の患者さんの症例を、過去のデータをもとに詳細に分析した研究です。

PubMedで原文を見る
不明
MK-03 · PMID 42747392

センチネルホルモンGDF-15、グルココルチコイド恒常性、副腎疾患

The Sentinel Hormone GDF-15, Glucocorticoid Homeostasis and Adrenal Disorders

Abstract / 原文

Growth and differentiation factor 15 (GDF-15) is a stress-responsive hormone secreted by various cell types in response to cellular stress. To regulate ingestive behaviour, suppress food intake, and induce nausea and vomiting during cellular stress, GDF-15 signals via a brainstem-restricted receptor, GFRAL. Elevated circulating GDF-15 levels serve as a biomarker of cellular stress and are increased in a wide range of diseases. GDF-15 has recently been established as a causal factor in cancer cachexia and GDF15-GFRAL antagonism is being pursued as a therapeutic strategy. Recent studies have highlighted a dynamic interplay between GDF-15 and the hypothalamus-pituitary-adrenal (HPA) axis, suggesting that GDF-15 acts as a sentinel hormone in stress responses. Here, we review the canonical role of GDF-15 in stress-related conditions and its potential impact on circadian regulation and HPA axis dysregulation. The review explores the potential activation of the HPA axis by GDF-15 and discuss the hypothesis that downstream glucocorticoid signalling may contribute to some of the cardiovascular, metabolic, immune, and musculoskeletal changes reported for GDF-15. Additionally, the review discusses the potential role of GDF-15 in adrenal insufficiency and its treatment and in adrenocortical carcinoma. In summary, this review aims to elucidate the role of GDF-15 in glucocorticoid homeostasis and adrenal disease in the context of the stress response.

今の治療への意味GDF-15というホルモンが、ストレスや副腎の病気に関わっている可能性が示唆されていますが、現時点では直接的な治療法につながるものではありません。

この論文は、GDF-15というホルモンと病気との関連性についての最新の研究動向をまとめたものであり、個々の患者さんの治療に直接関係するものではありません。ご自身の病状や治療については、必ず主治医にご相談ください。

Journal
Endocrine reviews(2026 Sep)
Authors
5名
Type
Journal Article

GDF-15に関するこれまでの研究をまとめたレビュー論文です。

PubMedで原文を見る
不明
MK-04 · PMID 42743068

頭蓋内集束超音波とレーザー間質熱療法

Intracranial focused ultrasound and litt

Abstract / 原文

Neurosurgery has evolved dramatically from its origins in ancient trephination to the sophisticated, technology‑driven discipline it is today. Early pioneers such as Harvey Cushing, Victor Horsley, Walter Dandy, and Geoffrey Jefferson established the foundations of modern neurosurgical practice, transforming a high‑risk field into a structured specialty. The 20th century ushered in unprecedented advances, particularly through neuroimaging, robotics, and neurostimulation, enabling greater precision, safety, and therapeutic possibilities for conditions including Parkinson's disease, epilepsy, and chronic pain. This article provides an overview of two key minimally invasive modalities-MR‑guided focused ultrasound (MRgFUS) and laser interstitial thermal therapy (LITT). By examining their procedural principles, clinical applications, and limitations, we highlighted how these complementary technologies are reshaping functional and oncological neurosurgery through effective lesioning or ablation without the need for large craniotomies.

今の治療への意味これらの新しい技術は、特定の脳疾患に対して、より低侵襲な治療法となる可能性がありますが、まだ研究段階の側面もあります。

これらの技術は、まだ広く一般的に行われている治療法ではない可能性があります。ご自身の病状や治療法については、必ず主治医にご相談ください。治療方針の決定は、必ず主治医とよく話し合って行ってください。

Journal
British journal of neurosurgery(2026 Sep)
Authors
3名
Type
Journal Article, Review

MRガイド下集束超音波とレーザー間質熱療法について解説したレビュー論文です。

PubMedで原文を見る
観察研究
MK-05 · PMID 42733371

内因性高コルチゾール血症と原発性副甲状腺機能亢進症の併存:臨床的および遺伝的特徴

[A combination of endogenous hypercortisolism and primary hyperparathyroidism: clinical and genetic characteristics]

Abstract / 原文

BACKGROUND: A combination of endogenous hypercortisolism and primary hyperparathyroidism (PHPT) occurs rarely, few clinical cases are described in the literature. The causes of the development of such combination are poorly investigated. AIM: To study clinical and genetic characteristics of a combination of endogenous hypercortisolism and PHPT. MATERIALS AND METHODS: A retrospective, single-center, cross-sectional, observational study was performed. Clinical characteristics of patients with a combination of endogenous hypercortisolism and PHPT were analyzed. All patients had previously undergone genetic testing as follows: MEN1 Sanger sequencing (n=10), next-generation sequencing of a panel of genes including MEN1 and CDKN1B (n=3), whole-exome sequencing (n=8). RESULTS: 21 patients (17 females, 4 males) were included in the study: 17 with Cushing's disease (CD) and PHPT, 3 patients with Cushing's syndrome (CS) and PHPT, and one patient with ACTH-ectopic syndrome (ACTH-ES) and PHPT. Among patients with CD and PHPT ten had MEN1 mutations (multiple endocrine neoplasia type 1 syndrome (MEN1)), and seven did not have MEN1 mutations (MEN1 phenocopies). In patients with MEN1 the debut of both CD and PHPT occurred at younger age in comparison to MEN1 phenocopies (p=0,015 and p=0,0006). In 60% of MEN1 CD occured in infancy, and in all children CD was the first manifestation. In 75% of adult MEN1 patients CD was diagnosed after PHPT, whereas in all MEN1 phenocopies PHPT was diagnosed after or during investigation with regard to CD. The majority of MEN1 patients also had gastro-entero- pancreatic neuroendocrine tumors (NETs), and some had lung NETs, whereas patients with MEN1 phenocopies did not have NETs. One patient with CS (bilateral lesions) and PHPT had ARMC5 mutation. In a patient with ACTH-ES and PHPT no mutations were found. CONCLUSION: A combination of endogenous hypercortisolism and PHPT occurs more frequently in females. In children with MEN1 and in MEN1 phenocopies the first manifestation is more frequently CD, while PHPT is diagnosed accidentally during evaluation, whereas in adults with MEN1 the first manifestation is more frequently PHPT. MEN1 mutations can be the cause of a combination of these two endocrine tumor diseases, and, possibly, ARMC5 mutations in cases of CS and PHPT, though in the majority of cases the cause remains unknown. Identification of causes of endogenous hypercortisolism and PHPT co-occurrence can expand our understanding of the mechanisms of endocrine tumor development.

今の治療への意味クッシング病と副甲状腺機能亢進症が同時に起こる場合、特定の遺伝的要因が関わっている可能性があり、今後の原因解明や治療法開発につながるかもしれません。

この研究は、まれなケースを対象としており、結果の解釈には注意が必要です。ご自身の病状や治療については、必ず主治医にご相談ください。治療方針の決定は、必ず主治医とよく話し合って行ってください。

Journal
Problemy endokrinologii(2026 Sep)
Authors
10名
Type
Journal Article, Observational Study, English Abstract

21人の患者さんの臨床データと遺伝子情報を分析した観察研究です。

PubMedで原文を見る
( 02 )TRIALS / JAPAN · 0件

日本で参加できる治験

現在 募集中のもの

日本で現在募集中の治験は見つかりませんでした。下の公式レジストリで条件を変えると見つかる場合があります。
( 03 )REGISTRY / jRCT

治験をもっと探す

日本の公式レジストリで全件を確認

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確認できます。

jRCT で検索日本の臨床研究実施計画 公開システム「対象疾患名」に クッシング病 を入力し、「募集状況」で 募集中 にチェックして検索します。ClinicalTrials.gov で全件を見る世界最大の治験データベース(英語)「クッシング病・日本・募集中」の条件で一覧が開きます。

※ jRCTは自動の大量データ取得を禁じているため、本サービスは自動収集せず、ご自身が公式サイトで検索できるリンクでご案内しています(規約順守)。

お金・介護・制度クッシング病の療養に使えるかもしれない公的サポートを調べる医療費・生活費・介護の支援制度と相談先を、あなたの状況に合わせてご案内(回答は端末内で完結)
( 04 )SUPPORT

患者会・相談窓口

一人で抱え込まないでください

同じ病気の患者・家族とつながる、制度や生活の相談をする、といったときの窓口です。

全国の相談先

※ お住まいの都道府県の「難病相談支援センター」でも、医療費助成や療養生活の相談ができます(難病情報センターから探せます)。