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Carney complex

内分泌

关键词内分泌 疾病 遗传疾病

词汇介绍

拓展阅读

解析

carney   英 /'kɑ:ni/

释    义   v. 哄骗

               n. 哄骗的话;狂欢节(等于 carnival)

               n. (Carney) (美)卡内(人名)

例    句   In Washington, the White House Spokesman Jay Carney said they were monitoring situation closely. 在华盛顿,白宫发言人杰伊·卡尼说正在密切关注形势。

 

complex   英/ˈkɒmpleks/   美/ˈkɑmplɛks;kəmˈplɛks/

释    义   adj. 复杂的;合成的

               n. 复合体;综合设施

例    句   We have language and use it to express complex ideas. 我们有语言并使用它去表达复杂的思想。

概述

Carney 多联症是一种罕见的遗传疾病,其特征是多发性良性肿瘤,最常影响心脏,皮肤和内分泌系统,并且皮肤着色(色素)异常,导致患病区域的皮肤出现斑点。结缔组织的良性肿瘤(粘液瘤)在患有Carney 多联症的人中很常见,并且最常见于心脏,可能会导致严重的,危及生命的并发症,包括中风,瓣膜阻塞或心力衰竭。诊断根据详细的患者病史,全面的临床评估,各种专门的测试以及特征性症状的识别,对Carney 多联症进行诊断。根据医学文献,以典型方式鉴别出以下两种或多种症状可表明Carney 多联症:心脏粘液

Acromegaly in Carney complex复制标题

卡尼复合体的肢端肥大症

发表时间:2019-07-01

影响因子:3.3

作者: T Cuny T T Mac

期刊:Pituitary

In this paper, we report, to the best of our knowledge, a new PRKAR1A mutation, responsible for a 4-nucleotide deletion in exon 2 (c.80_83del, p.(Ile27Lysfs*101) in a patient with CNC revealed by atrial myxoma, spotty skin pigmentation, cutaneous myxomas and acromegaly due to a GH-secreting microadenoma. In CNC, it seems that acromegaly is more frequently due to a microadenoma as compared to sporadic acromegaly. This observation could be however the consequence of a systematic hormonal and/or imaging assessment as soon as the diagnosis of CNC is done or suspected. Another hypothesis could be that only a subset of somatotroph cells will exhibit loss of heterozygosity (LOH) at 17q22-24, consistent with the Knudson two-hit model of hereditary tumorigenesis of this syndrome, and therefore will result in an adenoma of small size. Another matter of the discussion is related to the rarity of “true” acromegaly in CNC (10%) contrasting with up to 70% of patients who will have subtle abnormalities of the GH axis. This is likely due to a certain degree of somatotroph hyperplasia which suggests, from a pathophysiological point of view, that PRKAR1A mutations may lead to GH hyperplasia, which in turn may sometimes result, albeit not systematically, to the development of a GH-secreting microadenoma or macroadenoma. This observation is further supported by the development of GH hyperplasia in patients with MAS, a pathology in which a sustained activation of the cAMP signaling pathway occurs as well. Unlike FIPA or the so-called X-linked acrogigantism (X-LAG) syndrome, CNC-related acromegaly does not seem to be correlated with higher concentrations of GH and/or IGF-1 as compared with non-syndromic acromegaly. On the contrary, it even appears that a higher proportion of microadenomas are likely to be found presumably due to an active screening in the population of patients with clinical patterns of CNC. However, it could not be entirely ruled out that CNC may predispose to mild forms of acromegaly, which will be diagnosed at a later stage of the disease as compared to other CNC symptoms. This is particularly highlighted in the cases from the literature by a very low proportion of patients for who acromegaly was the inaugural lesion of the syndrome.

译文

在本文中,据我们所知,我们报道了一个新的PRKAR1A突变,该突变导致心房粘液瘤揭示的CNC患者外显子2(c.80_83del,p。(Ile27Lysfs * 101))中的4个核苷酸缺失。 ,由于生长激素分泌的微腺瘤引起的皮肤色素沉着,皮肤粘液瘤和肢端肥大;在CNC中,与散发性肢端肥大相比,肢端肥大似乎更多是由于微腺瘤引起的,但是这种观察可能是系统性激素和/或另一种假设可能是,仅一部分子体营养细胞在17q22-24会表现出杂合性丧失(LOH),这与克努森(Knudson)两次遗传性肿瘤发生模型相一致讨论的另一个问题与CNC中“真正的”肢端肥大症的罕见性(10%)有关,而只有70%的患者会出现细微的异常GH轴的高度。这可能是由于一定程度的体质增生,从病理生理学的角度来看,这表明PRKAR1A突变可能导致GH增生,尽管有时不是系统性的,有时反过来可能导致GH分泌型微腺瘤的发展。或大腺瘤。 MAS患者中GH增生的发展进一步支持了这一观察,MAS患者中也发生了cAMP信号传导途径的持续激活。与FIPA或所谓的X连锁肢端肥大症(X-LAG)综合征不同,与非综合症肢端肥大症相比,CNC相关肢端肥大症似乎与更高的GH和/或IGF-1浓度无关。相反,据推测可能是由于主动筛查具有CNC临床特征的患者人群中发现了更高比例的微腺瘤。但是,不能完全排除CNC可能易患轻度肢端肥大症,与其他CNC症状相比,该疾病可在疾病的后期进行诊断。在文献中的案例中,尤其突出的是,肢端肥大症是该综合征的就诊病变,该比例非常低。