64例 Erdheim-Chester 病单中心队列中的内分泌表现

Endocrine Manifestations in a Monocentric Cohort of 64 Patients With Erdheim-Chester Disease.

作者信息

Courtillot C, Laugier Robiolle S, Cohen Aubart F, Leban M, Renard-Penna R, Drier A, Charlotte F, Amoura Z, Touraine P, Haroche J

机构信息

Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocriniennes Rares de la Croissance (C.C., P.T.), Endocrinologie et Maladies Métaboliques (S.L.R.), Médecine Interne, Centre de Référence des Maladies Auto Immunes et Systémiques Rares, Lupus et Syndrome des Anticorps Antiphospholipides (F.C.A., Z.A., J.H.), Biochimie Hormonale (M.L.), Radiologie (R.R.-P.), Neuroradiologie (A.D.), and Anatomie Pathologique (F.C.), Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires La Pitié-Salpêtrière-Charles Foix, 75013 Paris, France; and Centre Hospitalier Universitaire de Poitiers (S.L.R.), 86021 Poitiers, France.

出版信息

J Clin Endocrinol Metab. 2016 Jan;101(1):305-13. doi: 10.1210/jc.2015-3357. Epub 2015 Nov 13.

DOI:10.1210/jc.2015-3357

PMID:26565949

Abstract

CONTEXT

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis, characterized by infiltration of foamy histiocytes in multiple organs. Endocrine involvement has mostly been described in case reports.

OBJECTIVE

We performed systematic endocrine evaluation in a large cohort of patients with ECD.

DESIGN

This was a single-center observational study conducted between October 2007 and May 2013.

SETTING

The evaluation was conducted in Pitié-Salpêtrière Hospital (Paris, France), a tertiary care hospital.

PATIENTS

Sixty-four consecutive patients with ECD (sex ratio, 3.6; mean age, 57.6 years [range, 20-80 years]). Thirty-six patients had follow-up assessments.

INTERVENTIONS

There were no interventions.

MAIN OUTCOME MEASURES

Clinical, biological, and morphological evaluations of pituitary, gonadal, adrenal, and thyroid functions, as well as metabolic evaluation, were performed.

RESULTS

Diabetes insipidus was found in 33.3% of patients, frequently as the first manifestation of ECD. Anterior pituitary dysfunction was found in 91.3% of patients with full anterior pituitary evaluation, including somatotropic deficiency (78.6%), hyperprolactinemia (44.1%), gonadotropic deficiency (22.2%), thyrotropic deficiency (9.5%), and corticotropic deficiency (3.1%). Thirty-five patients (54.7%) had ≥2 anterior pituitary dysfunctional axes, rising to 69.6% (16 of 23) when only patients with complete evaluations were considered. Two patients had panhypopituitarism. Infiltration of the pituitary and stalk was found with magnetic resonance imaging in 24.4% of patients. Testicular insufficiency was found in 53.1% of patients, with sonographic testicular infiltration in 29% of men, mostly bilateral. Computed tomography adrenal infiltration was found in 39.1% of patients, and 1 case of adrenal insufficiency was observed. No patient was free of endocrine hormonal or morphological involvement. Endocrine dysfunctions were most often permanent, and new deficits appeared during follow-up.

CONCLUSION

Endocrine involvement is very frequent in ECD and should be evaluated carefully at diagnosis and during follow-up.

摘要

背景

厄德里希-切斯特病（ECD）是一种罕见的非朗格汉斯细胞组织细胞增多症，其特征是多个器官出现泡沫状组织细胞浸润。内分泌受累情况大多在病例报告中有所描述。

目的

我们对一大群ECD患者进行了系统的内分泌评估。

设计

这是一项于2007年10月至2013年5月进行的单中心观察性研究。

地点

评估在法国巴黎皮提耶-萨尔佩特里埃医院（一家三级医疗机构）进行。

患者

64例连续的ECD患者（男女比例为3.6；平均年龄57.6岁[范围20 - 80岁]）。36例患者进行了随访评估。

干预措施

未进行干预。

主要观察指标

对垂体、性腺、肾上腺和甲状腺功能进行临床、生物学和形态学评估，以及代谢评估。

结果

33.3%的患者出现尿崩症，常为ECD的首发表现。在接受全面垂体评估的患者中，91.3%存在垂体前叶功能障碍，包括生长激素缺乏（78.6%）、高催乳素血症（44.1%）、促性腺激素缺乏（22.2%）、促甲状腺激素缺乏（9.5%）和促肾上腺皮质激素缺乏（3.1%）。35例患者（54.7%）有≥2条垂体前叶功能障碍轴，若仅考虑接受完整评估的患者，这一比例升至69.6%（23例中的16例）。2例患者出现全垂体功能减退。24.4%的患者通过磁共振成像发现垂体及垂体柄有浸润。53.1%的患者存在睾丸功能不全，29%的男性通过超声检查发现睾丸浸润，大多为双侧性。39.1%的患者通过计算机断层扫描发现肾上腺浸润，观察到1例肾上腺功能不全。没有患者不存在内分泌激素或形态学受累情况。内分泌功能障碍大多为永久性的，且随访期间出现了新的缺陷。