早产儿Prader-Willi综合征一例

正1病例介绍患儿李××,男,因早产伴有反应差40 min于2017-03-22入住新生儿重症病房。孕34周,出生体重1 610 g,阴道分娩,Apgar 1分、5分、10分都评10分,羊水清,量50 ml,脐带无异常、胎盘无钙化,出生后由于早产小于胎龄儿、反应差、哭声弱、呼吸困难而收入重症监护室。父母非近亲结婚,母亲有妊娠期糖尿病、癫痫合并妊娠、妊娠期肝内胆汁淤积症、羊     

一例Prader-Willi综合征的基因诊断和减重手术治疗

分析一例Prader-Willi综合征的临床表现、基因诊断及相关治疗.对一例临床高度怀疑PWS患者的15q11-q13印迹中心SNRPN基因,外显子α区段中CpG位点进行甲基化特异性聚合酶链反应(MSPCR)扩增,用重亚硫酸盐测序聚合酶链反应(BSPCR)证实;并比较患者在胃袖状切除手术前后的代谢状况.MSPCR提示与正常人比较,患者15q11-q13区域无父源等位基因的扩增产物;BSPCR证实患者SNRPN基因CpG位点完全甲基化;胃袖状切除手术后4个月整体代谢情况和心功能均有改善.MSPCR和BSPCR相互印证可以作为基因诊断PWS的方法,减重手术有望成为此病的主要治疗手段之一.

Abstract：

To investigate the clinical features, genetic diagnosis, and treatment of a patient with Prader-Willi syndrome(PWS). For a case with clinically suspected PWS, methylation specific PCR(MSPCR)amplification was applied to CpG islands of SNRPN(exon α)gene locus in the 15q11-q13. Furthermore, the diagnosis was comfirmed by the method of bisulfite sequencing PCR(BSPCR). Metabolic status before and after the operation of sleeve gastrectomy were compared. Absence of amplification of paternal allele on chromosome 15q11-q13 was detected in the case by MSPCR, different from the normal control. Results of BSPCR further proved a full methylation of CpG islands in the SNRPN gene locus. Four months after sleeve gastrectomy, systemic metabolic status and ventricular function were improved. MSPCR and BSPCR were both consistent with genetic diagnosis of PWS. Weight loss surgery is expected to be a major therapy of this disease.     

Shwachman-Diamond综合征临床特征与管理

Shwachman-Diamond 综合征是一种可累及全身多脏器的常染色体隐性遗传病,主要表现为胰腺外分泌功能不全、骨髓衰竭和骨骼发育异常,常有肝脏累及。为提高临床医生对该病的认识,本文总结了Shwachman-Diamond 综合征的发病机制、临床特征、诊断及长期管理要点。Shwachman-Diamond 综合征患儿早期诊断、早期治疗和规律随访是改善预后的关键。     

成人期确诊的Prader-Willi综合征一例病例报告

本文报道1例成人期确诊的Prader-Willi综合征(PWS)病例。PWS作为一种罕见的遗传性疾病, 国内外已报道病例大多数确诊于婴幼儿期、儿童期, 于成人期确诊的病例少见报道。本例患者婴幼儿期症状隐匿, 成年后因糖尿病、月经紊乱就诊, 经基因检测后确诊为PWS。本文侧重于分析该患者成年后临床表现, 并复习相关文献, 以提高对该病的认识。     

93例肾综合征出血热患儿临床特点分析

肾综合征出血热(HFRS)为自然疫源性疾病,人群普遍易感,以男性青壮年多发。1998年1月1日至2002年12月31日,我院共收治HFRS患者1514例,其中1～14岁患儿93例,占6.14％。现对其临床特点分析如下。     

Dubin-Johnson综合征临床及病理特征

目的探讨Dubin-Johnson综合征(DJS)的临床及病理特点。方法分析解放军第三○二医院2006年1月至2016年4月收治的21例DJS患者的临床资料,回顾性分析患者的临床及病理资料。结果男17例,女4例,平均年龄(28.7±8.1)岁,平均TBil(59.2±11.1)μmol/L;平均DBil(40.9±9.3)μmol/L,肝穿病理组织肉眼可见呈黑色、灰褐色、黄绿色、灰黑色等黑肝表现。光镜下主要病理改变:肝细胞内大量较粗大的深棕色颗粒沉积,以中央静脉周围为著,少数肝细胞水样变性,窦周炎不明显,汇管区无或轻度扩大,少量炎细胞浸润,未见明确界面炎。结论 DJS多发于男性,以青少年期发病为主,升高以DBil升高为主,肝穿病理检查为确诊DJS主要手段,黑肝表现及镜下深棕色颗粒沉积为其特异性病理特征。     

Prader-Willi综合征的代谢异常及胰高血糖素样肽1类似物治疗

Prader-Willi综合征（PWS）是15号染色体q11-q13缺失导致的遗传综合征,包括贪食、肥胖、糖尿病和胰岛素抵抗等特征性表现.发病率为1∶10 000 ～1∶25 000[1-2].其临床表现有出生后肌张力低下导致喂养困难、儿童早期出现肥胖、特征性外貌、性腺功能减退、生长激素分泌受损、轻到重度的智力低下和行为异常[3].部分特征反映了患者的下丘脑功能异常[4].未加控制的情况下,患者2～3岁开始发胖,以后由于缺乏饱感导致食欲亢进使肥胖症状进行性加重[5].回顾性分析表明30岁以上的PWS患者年死亡率达7％[6],预期寿命的缩短与肥胖相关的并发症有关,包括心血管疾病、呼吸系统疾病和糖尿病.代谢综合征是PWS患者死亡的危险因素[5].下面就近年来这方面的研究进展作一综述.     

Peutz-Jeghers综合征10例临床分析

Peutz-Jeghers syndrome(PJS),又称为黑斑息肉综合征,是一类少见的胃肠错构瘤性多发性息肉综合征,具有原发于胃肠和生殖系统的多器官错构瘤,特征性皮肤黏膜色素斑,且易并发多种癌症。我们对我医院近10年确诊的10例PJS病例进行了分析,报告如下。     

Death during GH therapy in children with Prader-Willi syndrome: description of two new cases

A few cases of death worldwide during GH treatment in pediatric patients with Prader-Willi syndrome (PWS) have been recently described. The evaluation of further cases is needed to better identify possible causal mechanism(s), as well as to suggest some additional guidelines for prevention. We report the death of 2 additional children with genetically confirmed PWS in the first months of GH therapy. Case 1: This 3.9-yr-old girl was born at 39 weeks gestation. Low GH response to two stimulation tests was observed. GH administration was started at the age of 3.5 yr (0.33 mg/kg per week), when the patient was at 130% of her ideal body weight (ibw). Hypertrophy of adenoids was previously demonstrated. Snoring and sleep apnea were present before GH treatment, and did not increase during therapy. Four months later she died at home suddenly in the morning. Case 2: This patient was a 6.3-yr-old boy. He was born at term after an uneventful pregnancy. At the age of 6 yr, his weight was at 144% of his ibw. He showed reduced GH secretion during provocation tests, and GH therapy was started (0.20 mg/kg per week). The previously reported nocturnal respiratory impairment had worsened after beginning GH administration. Tonsils and adenoids hypertrophy were noted. At the age of 6.3 yr he died at home in the morning following an acute crisis of apnea. These additional cases seem to confirm that some children with PWS may be at risk of sudden death at the beginning of GH therapy.     

16例Gilbert综合征患者的临床、病理特征和基因分析

目的 总结Gilbert综合征的临床和病理特征.方法 对16例有肝活组织检查的Gilbert综合征患者的临床病理资料进行总结,并对其中2例进行基因检测. 结果 16例Gilbert综合征患者中,男13例,女3例,年龄14～40岁.间断黄疸、非结合性胆红素升高.肝活组织检查中央静脉周围肝细胞内可见脂褐素沉积.2例患者的基因分析,致病基因为第1外显子突变(Gly71Arg),为显性遗传. 结论 Gilbert综合征发病以青少年多见,并有间断出现非结合性胆红素升高.肝组织病理学检查有助于排除其他与非结合性胆红素升高有关的肝脏疾病的诊断.开展相关的基因检测有助于总结我国Gilbert综合征的遗传基因特点.     

Drug-induced sleep endoscopy in children with Prader-Willi syndrome

Purpose

Review drug-induced sleep endoscopy (DISE) findings in children with Prader-Willi syndrome (PWS) and correlate the patterns of airway collapse with apnea-hypopnea index (AHI) and body mass index (BMI).

Methods

A total of nine children with PWS underwent DISE. DISE findings were recorded using the VOTE classification system. The relationship between different patterns of airway collapse with AHI and BMI was analyzed.

Results

The majority of children with PWS were found to have multilevel obstruction (six out of nine children, 66.6 %). The velum was the most common site of obstruction (nine out of nine children, 100 %). All of the patients had positional obstructive sleep apnea (OSA). Patients with partial or complete anterior-posterior tongue base collapse were associated with a significantly higher AHI (P = 0.016) compared to patients with no anterior-posterior tongue base collapse. Apart from tongue base collapse, no other patterns of airway collapse showed a consistent association with AHI in our results. No patterns of airway collapse showed a significant association with BMI in our study.

Conclusions

In our study, partial or complete anterior-posterior tongue base collapse was associated with higher AHI values in children with PWS. Therefore, careful attention should be addressed to the management of tongue base collapse. Positional therapy could be a potential treatment for patients with PWS since it may alleviate the severity of tongue base collapse.

     

10例Dubin-Johnson综合征患者临床特征分析

Dubin-Johnson综合征(Dubin-Johnson syndrome,DJS)是一种临床表现为慢性间歇性/持续性高胆红素血症,由位于染色体10q24区的ATP结合盒C亚家族转运体2(ATP-binding cassette subfamiliy C member 2,ABCC2)基因突变,导致多耐药相关蛋白2(multidrug resistance protein 2,MRP2)功能障碍或缺失引起的常染色体隐性遗传病[1-2],其在临床中少见且容易误诊。通过分析总结DJS病例资料,以期加强对该病的认识。     

酒精性肝病并酒精性戒断综合征32例临床分析

探讨酒精性肝病患者中酒精戒断综合征的临床特点,并分析酒精性肝病的严重程度是否影响戒断症状的轻重。回顾性分析了32例酒精性肝病合并酒精戒断综合征的患者,用SPSS统计软件进行统计分析表明酒精性肝病的严重程度并不影响戒断症状的轻重,酒精性肝病的严重程度与饮酒时间密切相关而与平均每天酒量关系不大,而戒断则反之。因此长期酗酒引起酒精性肝病者每天饮酒（精）量越大越容易出现戒断综合征,须提高警惕避免误诊。     

结缔组织病重叠综合征37例临床分析

目的：分析结缔组织病（CTD）重叠综合征（OLs)的临床特点及肺功能等的变化,以探讨其早期对肺的损害。方法：分析经临床确诊的37例OLs临床特息肺功能的变化。结果：患者平均年龄43．1岁。女性占89．2％,临床表现为关节肿瘤占100％,3／4的患者有雷诺现象,2／3患者有皮肤硬化,约半数患者有晨僵,约1／3患者有呼吸系统症状,肺功能主要表现为PEF、FEF25％－75％和DLc下降,弥散功能障碍占80．05,小气道功能障碍占51．4％。结论OLs患者常有关节症状和皮肤病变,肺功能主要表现为弥散功能和小气道功能障碍,其中又以散功能下降发生率最高。     

Clinical features of two cases of Legionnaires' disease with persistence of Legionella urinary antigen excretion

The advantages of diagnosing legionellosis by urinary antigen detection are widely recognized, and include early detection, rapidity of testing, and ease of specimen collection. However, the persistence of Legionella urinary antigen excretion has been suggested in some selected patients, although the clinical features of these patients have not yet been clearly described. Here, we describe the clinical features of two patients with Legionnaires' disease with persistence of Legionella urinary antigen excretion (117 days and 247 days). One patient had an underlying disease, adult T-cell leukemia, and the other patient had ulcerative colitis and was receiving oral corticosteroids. Unusual clinical and radiological findings as well as a review of the literature are presented.     

Clinical features of chronic granulomatous disease: analysis of 27 cases

正Objective To evaluate the clinical features and treatment of chronic granulomatous disease (CGD).Methods A total of 27 CGD patients diagnosed by neutrophil respiratory burst in Zhengzhou Children Hospital     

155例酒精性肝病患者临床特征分析*

目的 分析酒精性肝病（ALD）的临床特点,进一步提高ALD的诊治水平。方法 对2014年1月~2015年7月在泰州市人民医院住院的155例ALD患者的临床资料进行回顾性分析。结果 在155例患者中,酒精性脂肪肝（AFL)24例（15.5%）,酒精性肝炎（AH)83例（53.6%）,酒精性肝硬化（AC）48例（31.0%）;农民和个体经营者分别占34.8%和21.9%;平均年龄为（55.5±12.2）岁,45~59岁中年占44.5%;AC患者的平均年龄为（63.1±12.3）岁,显著大于AFL患者的（49.7±7.2）岁和AH患者的（52.9±11.3）岁（P<0.05）;AC患者的乙醇摄入量为（157.5±69.3） g/d,显著大于AFL患者的（105.7±50.6）g/d和AH患者的（125.3±66.4）g/d（P<0.05）;AC患者的平均饮酒年限为（31.7±12.0）年,显著长于AFL患者的（22.6±6.7）年和AH患者的（22.9±10.1）年（P<0.05）;多元回归分析显示,年龄、乙醇摄入量和饮酒年限是ALD患者发生肝硬化的危险因素; 69.0% 患者血清GGT升高,17.4%患者AST/ALT比值>2,38.1%患者红细胞平均体积（MCV）增大。结论 ALD患者主要为中年男性,以农民和个体经营者为主。年龄、乙醇摄入量和饮酒年限为ALD发生肝硬化的危险因素。AST/ALT比值>2、GGT升高和MCV增大还很难作为ALD的临床特点加以应用。