库欣综合征的病因和诊断

库欣综合征病因复杂,提法不断更新。在ACTH依赖型中,有垂体性(库欣病)及异位ACTH综合征两种,过去都只认为是肾上腺皮质增生、垂体性的也不是单一品种,包括占库欣病80％的具有相对自主分泌功能的垂体ACTH腺瘤、很少见的垂体ACTH细胞癌,另有10％左右表现为垂体ACTH增生,或在增生的基础上的腺瘤。关于Nelson综合征,认为是一     

库欣综合征

肾上腺疾病是继发性高血压的重要病因,除了较常见的原发性醛固酮增多症、嗜铬细胞瘤外,另一种常见的肾上腺皮质疾病如库欣综合征也可以引起继发性高血压。本文将对库欣综合征的临床表现,实验室检查,定性、定位诊断,治疗及预后进行较详细的介绍。     

库欣综合征

肾上腺疾病是继发性高血压的重要病因，除了较常见的原发性醛固酮增多症、嗜铬细胞瘤外，另一种常见的肾上腺皮质疾病如库欣综合征也可以引起继发性高血压。本文将对库欣综合征的临床表现，实验室检查，定性、定位诊断，治疗及预后进行较详细的介绍。     

唾液皮质醇诊断库欣综合征的临床意义

近年来多项研究显示唾液皮质醇对于诊断库欣综合征是一个敏感和方便的筛查指标。午夜唾液皮质醇的测定可明确诊断大部分的库欣综合征,排除假性库欣综合征;结合小剂量地塞米松唾液皮质醇抑制试验能提高诊断敏感性。唾液皮质醇的稳定性尤其适用于周期性库欣综合征的诊断和随访。     

库欣综合征的识别

库欣综合征是引起继发高血压的原因之一,临床较为少见,心内科就诊的患者容易误诊或者漏诊。本文以一例年轻患者的诊断为例,简介了高血压查因和库欣综合征的诊治流程,供心内科医生参考。     

合并库欣综合征的McCune-Albright综合征

McCune-Albright综合征(MAS)是由于受精卵形成后激动型G蛋白的α亚基(Gsα)发生激活突变所致,Gsα与细胞表面的许多激素受体相耦联.因突变体细胞的性质及其在受累组织中分布的不同,该病临床表现多样;除经典的性早熟、骨纤维结构不良和牛奶咖啡色斑三联征外;还包括非内分泌系统的表现如肾脏磷排泄增加、肝胆功能障碍和心脏病.     

诊断库欣综合征时多种检查方法的比较

目的评价诊断库欣综合征时多种临床试验方法的敏感性和特异性。方法在173例临床确诊库欣综合征患者中进行血、尿皮质醇测定,血皮质醇昼夜节律观察和地塞米松抑制试验,并与术后病理结果进行比较。结果库欣综合征患者血皮质醇节律消失者为92.9%,其中二点法节律消失率为85.1%(8:00,16:00)及91.8%(8:00,24:00),三点法为94.7%(8:00,16:00,24:00)。尿游离皮质醇(UFC)升高者为94.7%。小剂量地塞米松抑制试验不能抑制者为79.7%(1mg)和84.3%(2mg)。血皮质醇基础值升高者为75.6%。库欣病患者行8mg地塞米松抑制试验,以抑制率50%为标准时,敏感性为50%~70%,特异性高于95%。结论诊断库欣综合征敏感性最强的检测指标为血皮质醇昼夜节律的消失和UFC增高。血皮质醇昼夜节律用三点法评价较二点法敏感性高。8mg地塞米松抑制试验是鉴别库欣病和肾上腺皮质腺瘤最合适的方法。     

亚临床库欣综合征

典型的库欣综合征是少见疾病 ,而亚临床库欣综合征则较为多见。后者缺乏皮质醇增多症的典型特征 ,而肥胖病、高血压、2型糖尿病的发病率较高。患有亚临床库欣综合征的患者是否实施肾上腺切除术 ,应根据大剂量地塞米松抑制试验的结果 ,对年龄小于 5 0岁的病人、血浆促肾上腺皮质激素较低的病人、近期体重增加、肥胖、高血压、糖尿病和骨质减少症的病人需考虑手术     

库欣综合征药物治疗

库欣综合征是一种因内源性皮质醇产生过多而具有多种临床表现的疾病,手术为首选治疗。但部分患者因病情疑难无法明确病因而进行手术,或者术后治疗效果不好,持续的高皮质醇血症会带来各种严重并发症。在等待治疗和治疗起效期间,药物治疗可以暂时抑制过多的皮质醇产生和缓解临床表现。在抑制促肾上腺皮质激素分泌的药物中,临床试验已验证了生长抑素受体激动剂帕瑞肽的疗效,而多巴胺受体激动剂卡麦角林也显示了潜在的疗效。在抑制皮质醇分泌的药物中,单用和与其他治疗联合使用,酮康唑、氟康唑、氨基导眠能、甲吡酮、米托坦和依托咪酯均能有效抑制皮质醇分泌。第三类药物为糖皮质激素受体拮抗剂,米非司酮被批准用于未缓解或复发的不适于手术的库欣综合征。本文对目前用于库欣综合征的治疗药物的临床使用和进展进行了全面的综述。在临床工作中,需要综合考虑患者的具体情况来选择不同的药物治疗。     

特纳综合征的临诊应对

病例患者K.S.,女,11.5岁,因身材矮小而被发现患有45,X特纳综合征(TS).足月分娩,出生体重3.5 kg(0.21 s),身长50.8 cm(0.59 s).父母发现该女婴有手足肥厚、喂养困难和胃食道反流.     

Approach to the patient with suspected hypereosinophilic syndrome

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垂体型甲状腺激素抵抗综合征的临诊应对

甲状腺激素抵抗综合征(syndrome of resistance to thyroid hormone, RTH)是一种罕见的遗传性甲状腺疾病。RTH临床表现及实验室检查异质性大,易被误诊甚至误治。本文通过对本院1例反复诊治长达6年的垂体型RTH患者相关临床资料进行回顾并汇总该病最新进展,以提高临床医生对RTH的认识...     

Approach to the patient with severe,refractory irritable bowel syndrome

Opinion statement Defining which patients with irritable bowel syndrome (IBS) are “refractory” is a highly subjective undertaking. Duration of symptoms, severity of symptoms, type of symptoms, and a host of other medical, epidemiologic, and psychosocial variables all play a role in this determination. It is safe to say that a long duration of disease per se does not constitute a refractory patient. A number of studies have given us some suggestion of what constitutes refractoriness in IBS. Patients who have a predominant pain complaint as opposed to those who are mainly concerned about their bowel habit (either diarrhea or constipation) are more likely to be disabled by their IBS. However, at a clinical level, patients who are considered refractory are usually seen as individuals who fail to improve on a variety of drug therapies or who have high healthcare utilization despite aggressive treatment of their IBS. Finally, patients who are unhappy about their care and/or are assertive in their request to “be cured” can also be seen as refractory because of unrealistic expectations they set for both themselves and the physician. The key to effectively dealing with patients with “refractory” IBS is to understand that their behaviors most often have correlates and underlying issues that need to be dealt with in order to effectively address the patient’s concerns. Unfortunately, most patients who fall into this category are quickly identified as “difficult,” “unpleasant,” or even “crazy” and are not infrequently dismissed by their treating physician. This leads to an ever-enlarging circle of healthcare utilization, with patients seeking out physicians and other practitioners looking for the elusive cure. A key component of this process is an increasing frustration and cynicism regarding the healthcare system and physicians in particular, which does no good for anyone involved. It is clearly critical for the physician dealing with a patient with IBS and a history of poor response to treatment to understand these correlates. Failure to do so creates a continuation of the cycle of treatment failure and frustration that so often characterizes these patients’ care.     

Concomitant Cushing's syndrome due to adrenal adenoma in a patient with systemic lupus erythematosus

A 51-year-old woman had been administered 5 mg/day of prednisolone due to systemic lupus erythematosus (SLE). She developed hypertension, hypokalemia and a pathologic pubic fracture during two years before admission. Although iatrogenic Cushing's syndrome was initially suspected, we diagnosed her as concomitant Cushing's syndrome due to a left adrenal tumor. The elevated endogeneous glucocorticoids were evaluated from urinary excretions of 17-hydroxycorticosteroids, which was 2-fold higher than normal and equivalent to 10 mg of prednisolone. After laparoscopic left adrenalectomy, SLE was favorably controlled with 15 mg of prednisolone, the dosage of which was equivalent to the estimated amount of preoperative glucocorticoids.     

Cushing's syndrome patient who exhibited congestive heart failure

Cushing's Syndrome (CS) may sometimes lead to dilated cardiomyopathy, even though this condition can be partially or completely reversed after treatment. In this article we report the case of a 28-yr-old woman with CS secondary to adrenal adenoma who exhibited congestive heart failure as an initial symptom. Two weeks before being admitted to our hospital, the patient started complaining of shortness of breath, orthopnea, paroxysmal nocturnal dyspnea and generalized edema. A physical examination did not reveal signs of hypercortisolism. Chest auscultation revealed bilateral diffused crepitation; blood pressure was 180/120 mmHg with heart rate of 90 beats/min. A chest X-ray showed a cardiac shade enlargement due to congestive heart failure. Transthoracic echocardiography demonstrated a dilated left ventricle and an impaired left ventricular systolic function. The patient's urinary cortisol excretion was elevated and circadian rhythm of cortisol was absent. ACTH level was low. In addition, plasma cortisol failed to decrease after administration of dexamethasone. An abdominal magnetic resonance imaging scan showed a 7-cm right adrenal mass. The patient was administered oxygen, spironolactone, ACE-inhibitor and the signs and symptoms of heart failure gradually improved. A laparoscopic right adrenalectomy was performed and pathological examination of the gland showed a benign adrenocortical adenoma. After the adrenalectomy the patient was started on hydrocortisone therapy and 5 months later the wall thickness of the left ventricle was within normal range and the patient's blood pressure was 130/80 mmHg. In conclusion we report the case of heart failure as the main clinical symptom in CS secondary to adrenal adenoma.