遗传性低钾失盐性肾小管病临床分析

目的：分析遗传性低钾失盐性肾小管病的临床特点。方法：回顾性分析上海瑞金医院肾内科住院治疗Bartter综合征和Gitelman综合征共23例，其中经典型Bartter综合征4例，Gitelman综合征19例。结果：4例Bartter综合征发病年龄4月-33岁，临床上以多饮、多尿、乏力主要表现，2例患儿表现为脱水、呕吐、生长发育障碍；19例Gitelman综合征患者发病年龄10—52岁，临床上以双下肢无力、多饮、多尿、夜尿增加为主要表现，部分Gitelman综合征患者伴手足抽搐；实验室检查均表现为低血钾代谢性碱中毒，尿钾排出增加，血肾素活性、血管紧张素Ⅱ及醛固酮明显升高。而血压正常；经典型Bartter综合征尿钙肌酐比〉0．2，Gitelman综合征表现为低血镁、低尿钙、低尿钙肌酐比〈0．2；补钾或联合消炎痛、安体舒通和门冬氨酸钾镁等药物治疗后症状缓解。结论：低钾失盐性肾小管病主要特点包括低血钾代谢性碱中毒、高尿钾、血肾素、血管紧张素Ⅱ、醛固酮水平增高而血压正常，Bartter综合征和Gitelman综合征鉴别主要在发病年龄、血镁和尿钙水平，本病治疗应补钾、补镁、前列腺素合成酶抑制剂、醛固酮拮抗剂等多种药物联合应用。     

A bridge to Brugada.

In acute cardiac care, prompt diagnosis and management is mandatory. The electrocardiogram (ECG) remains a crucial investigation in the management of ischemic heart disease and arrhythmias. A case is discussed, where the ECG changes caused by the Brugada syndrome and those caused by ischemia, aggravated by myocardial bridging, intertwine.     

A Case of Pacemaker and Pacemaker-Like Syndrome

This report describes the occurrence of both pacemaker syndrome and a pacemaker-like syndrome (so-called pseudopacemaker syndrome) in a patient who exhibited an atrioventricular junctional rhythm probably on the basis of sick sinus syndrome. The clinical and hemodynamic manifestations of the two clinical situations were similar and associated with regular retrograde ventriculoatrial conduction. The abnormalities during the junctional rhythm were reproduced during ventricular pacing. Surprisingly, the occurrence of the pacemaker-like syndrome during junctional rhythm in patients with normal left ventricular function has rarely been described.     

Gardner综合征1例报道

背景Gardner综合征是常染色体显性遗传病,主要表现为多发性胃肠道息肉、软组织肿瘤和骨瘤.它比较罕见,相关报道较少,但其恶变率高,因此对该病有全面认识对治疗具有重要意义.病例简介我们报告1例被确诊为Gardner综合征的39岁男性患者,因贫血、黑便4月余,伴恶心呕吐20天来院诊治.胃肠镜检查发现胃肠道多发息肉,息肉活检病理证实该疾病诊断,我院医生即对其行内镜下治疗,患者术后恢复良好,黑便症状缓解,贫血症状也有所改善.结论Gardner综合征的临床表现复杂,因此要求医生能更加敏锐地将患者临床表现与影像学和病理检查结果相结合,尽早诊断和治疗,使病情得到有效的控制,改善疾病预后.     

Brugada syndrome in a 4-year-old child with Lemierre syndrome—A case report

Brugada syndrome is a rare arrhythmogenic disease with characteristic electrocardiogram (ECG) findings. Fever represents an important triggering factor. We report the case of a 4-year-old Saudi boy who was diagnosed with Lemierre syndrome and subsequently developed Brugada syndrome.     

A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death

1. Download high-res image (226KB)
2. Download full-size image

     

SAPHO综合征一例报道并文献复习

目的 探索ＳＡＰＨＯ综合征的临床特点及诊断方法。方法 报道了一例ＳＡＰＨＯ综合征并对ＳＡＰＨＯ综合征的文献进行复习。结果 本例有手足掌面脓疱疮,双侧锁骨和第一前肋骨炎,骨肥厚。骨病理切片示慢性炎症改变,故确诊为ＳＡＰＨＯ综合征。结论 ＳＡＰＨＯ综合征临床可以见到,应注意和其他疾病鉴别。     

重症酒精性肝炎合并布-加综合征及吉兰-巴雷综合征1例分析

1 临床资料 患者,女,26岁,因“腹胀,腹痛,皮肤巩膜黄染1个月”入院.患者1个月前出现腹胀、腹痛、乏力、目黄、尿黄,伴有恶心、呕吐,呕吐物为胃内容物,伴有全身肌肉痛、关节痛,间断发热,体温最高38.2℃,3d前出现胡言乱语,性格改变(躁动).既往:饮酒史5年,每天约20两白酒,啤酒每次约10瓶,每周3～4次,心情抑郁,常空腹饮酒,发病前暴饮.入院查体:一般状态差,体温37.5℃,血压100/70 mm Hg,脉搏125次/min,神志模糊,计算力、定向力障碍,皮肤巩膜重度黄染,面部血管扩张,全身肿胀,皮肤针眼处可见大片瘀斑,呼吸急促,双肺可闻及少许干湿罗音,心率125次/min,律齐,未闻明显杂音及额外心音.     

The association between metabolic syndrome and polycystic ovary syndrome: A systematic review and meta-analysis

BackgroundOne of the most frequently encountered endocrinopathy in women of reproductive age is polycystic ovary syndrome (PCOS). Recent studies have reported varied prevalence of metabolic syndrome (MetS) in women with PCOS. The aim of this study is to determine if the women with PCOS are at a higher risk of MetS.MethodThe present systematic review and meta-analysis was conducted according to the preferred reporting items for systematic reviews and meta-analysis (PRISMA) guidelines. To collect articles, we searched online databases of PubMed/Medline, Scopus, Web of Science, Science Direct, Embase, CINAHL, Cochrane Library, EBSCO and Google scholar search engine and the reference list of the retrieved articles using MeSH keywords of “metabolic syndrome”, “woman” and “polycystic ovary syndrome” without time limit until October 2018. Cochran's Q test and I² Index were used to evaluate the heterogeneity among studies and the random effects model was used for combining the results. Data analysis was performed in STATA software version 11.1.ResultFinally, 72 studies involving 10075 PCOS patients with an average age of 26.2 ± 5.01 years were included in the meta-analysis. The heterogeneity rate was high (I² = 76.5%; p < 0.001) and the pooled estimate of the association between MetS and PCOS was significant (OR = 2.57, 95% CI: 2.18–3.02; P < 0.001).ConclusionAccording to the results, there is higher risk of MetS in women with PCOS. Therefore, diagnosis and treatment of MetS in women with PCOS may have a significant impact on this patients health and reduce the rate of mortality and morbidity.     

Rare association between rheumatoid arthritis and Vogt-Koyanagi-Harada syndrome: A case-based review

IntroductionVogt-Koyanagi-Harada (VKH) syndrome is a systemic autoimmune disorder that targets tissues containing melanocytes such as the eye, inner ear, meninges and skin. Despite a common genetic susceptibility, the association between VKH syndrome and rheumatoid arthritis (RA) has been rarely reported.Aim of the workTo report a rare case with RA who developed incomplete VKH syndrome. The case is described and a review of the literature on similar cases is presented.Case reportA 26 year-old Tunisian woman, with a medical history of Hashimoto’s thyroiditis, was diagnosed on 2011 with seropositive and erosive RA treated with Leflunomide. She presented to the emergency department on June 2018 with bilateral blurred vision associated with photophobia, vomiting and severe headache that had gradually progressed over the preceding five days. Ophthalmological examinations showed typical findings of VKH syndrome. The patient received intravenous infusions of methylprednisolone at a daily dose of 1000 mg for 3 days that was followed orally with 2 mg/kg of prednisone equivalent. Given the lack of improvement in visual acuity after 3 weeks of treatment, azathioprine was added and VKH remission was achieved on September 2018 as confirmed on optical coherence tomography. However, the patient passed away on October 2018 due to infectious complications of the immunosuppressant agents.ConclusionTreatments and outcomes of VKH are variable. Pharmacological management of such an association between RA and VKH may be challenging, so care must be taken to balance treatment escalation with adverse events in patients at risk.     

The prevalence of metabolic syndrome in patients with polycystic ovary syndrome: A systematic review and meta-analysis

IntroductionPolycystic ovary syndrome (PCOS) is an endocrinopathy with unknown pathophysiology among women of reproductive age. Several studies have been conducted to determine the prevalence of metabolic syndrome (MetS) among PCOS patients. However, the results were contradictory. The present study was conducted to evaluate the prevalence of MetS in PCOS patients using the related published data.MethodThe present systematic review was perfumed based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The search was done using MeSH keywords in databases of PubMed, Scopus, Embase, CINAHL, Web of Science, Cochrane Library, EBSCO, and Google scholar search engine as well as the reference list of the retrieved papers without time limit until October 2018. We used Cochran's Q test and I² Index to evaluate the heterogeneity among the studies and the random effects model was used to combine the results. Data analysis was performed using Stata ver. 11.1.ResultsForty six studies including 8946 patients with PCOS were included in the final analysis. Total heterogeneity was high (I²: 91.43%, P < 0.001). The prevalence of MetS in PCOS patients was estimated to be 30% (95%CI: 27–33). Subgroup analysis based on MetS diagnostic criteria showed an estimated prevalence of 0.27% (95%CI: 0.18–0.37), 0.30% (95%CI: 0.27–0.34), 0.32 (95%CI: 0.25–0.39), 0.32 (95%CI: 0.27–0.37) and 0.24 (95%CI: 0.14–0.34) for IDF, NECP-ATPIII, AHA NHLBI, CDS, and unknown criteria, respectively.ConclusionConsidering the prevalence of MetS in PCOS patients, diagnosis of MetS in PCOS patients is necessary to reduce the mortality and morbidity rates.     

A case of chronic myelomonocytic leukemia complicated with spondyloarthritis

Chronic myelomonocytic leukemia (CMML), a clonal hematopoietic stem cell disorder with myelodysplastic and myeloproliferative overlap feature, is frequently associated with autoimmune diseases, such as vasculitis, polyarthritis, and neutrophilic dermatosis. We herein report the first case of CMML complicated with spondyloarthritis (SpA). A 64-year-old female patient, admitted to our hospital with buttock pain alternating left and right, was found to have sacroiliitis and spondylitis by contrast magnetic resonance imaging. Peripheral blood test and bone marrow biopsy revealed an increase of monocytes with trilineage dysplasia. We made a diagnosis of CMML. Although arthritic symptoms and imaging findings initially improved by azacitidine, CMML was thereafter transformed into acute myeloid leukemia. She is scheduled to hematopoietic stem cell transplantation. The concomitant onset of sacroiliitis with CMML suggested that her SpA feature was a paraneoplastic phenomenon of CMML. Thus, we must be aware that myelodysplastic syndrome including CMML can manifest as SpA.     

Pericardial decompression syndrome: A comprehensive review

Pericardial decompression syndrome(PDS) is an infrequent, life-threatening complication following pericardial drainage for cardiac tamponade physiology.PDS usually develops after initial clinical improvement following pericardiocentesis and is significantly underreported and may be overlooked in the clinical practice. Although the precise mechanisms resulting in PDS are not well understood, this seems to be highly associated with patients who have some underlying ventricular dysfunction. Physicians performing pericardial drainage should be mindful of the risk factors associated with the procedure including the rare potential for the development of PDS.     

A Management Guideline for Obesity-Hypoventilation Syndromes

A survey of our pulmonary service revealed little consensus as to the definition, work-up, and management of hypoventilation, more often encountered in the presence of obesity. If hypoventilation is defined by an arterial carbon dioxide level above 45mmHg, 22% of artrial blood gas samples over a 5-month period met this criterium, suggesting a high any-cause prevalence. This article presents the rationale and explanation for a management protocol for obesity-hypoventilation that is currently being assessed in the VA Medical Center and Case Western Reserve University training program in Pulmonary and Critical Care Medicine.