Expert pediatric opinion on the Report of the Baveno IV consensus workshop on methodology of diagnosis and therapy in portal hypertension

Portal hypertension leads to a wide variety of complications, which lead to significant morbidity and mortality and are some of the leading reasons for liver transplantation in children with chronic liver disease. Evidence-based approaches to the management of adults with portal hypertension exist and have been comprehensively reviewed in a series of international meetings, including the Baveno meetings. Similar evidence-based approaches for the management of portal hypertension in children do not exist and as such international meetings on portal hypertension have not focused on this problem in children. On October 7, 2005 at The Mount Sinai School of Medicine, a panel of pediatric experts reviewed the most recent Baveno statement and crafted a statement modified with their opinions vis a vis approaches to the management of portal hypertension in children.     

PKHD1突变致儿童门脉高压4例病例报告

目的 通过二代测序探讨儿童不明原因门脉高压的遗传病因,以提高临床认识。 方法 2012至2016年3月在复旦大学附属金山医院收治的4例不明原因的儿童门脉高压病例,均进行全外显子测序或肝病基因Panel的高通量测序,对临床表现进行回顾性分析。 结果 4例患儿中,男1例,女3例,发病年龄3.3~6.4岁。主要临床表现为上消化道出血3例,脾肿大4例,肝肿大2例;肝内胆管扩张1例;转氨酶轻度升高2例。4例患儿影像学上均有肾脏病变,肝脏合成功能和肾功能均正常。二代基因测序及Sanger验证,4例患儿均在PKHD1基因上发现复合杂合突变,其中无义突变和经典剪切位点突变各1个,缺失突变（移码突变）和错义突变（少见位点）各3个。例1外显子32 上第4 481位碱基A缺损造成移码突变和外显子51的前1位内含子区碱基G突变为A影响剪切位点;例2外显子24上第2 507位碱基T突变为C,导致第836位上的缬氨酸变为丙氨酸,外显子58上第9 568位碱基C突变为T,导致编码第3 190位谷氨酰胺的密码子变成终止密码子。例3外显子12上第847位碱基T突变为C,导致第283位上的苯丙氨酸转变为亮氨酸,外显子58上第9 455位密码子A缺失导致移码突变。例4外显子61上第10 315位碱基G突变为T,导致第3 429位上的天冬氨酸转变为酪氨酸,外显子27上第3 028至3 039位碱基缺失,并插入AGGT导致移码突变。最终4例患儿均确诊为常染色体隐性遗传性多囊肾病。 结论 PKHD1基因突变引起的常染色体隐性遗传性多囊肾病是我国儿童门脉高压的重要病因,二代基因测序是确诊的有效手段。     

Consensus statement: National Consensus Workshop on management of SAM children through medical nutrition therapy

Justification  

Severe acute malnutrition (SAM) is an important preventable and treatable cause of morbidity and mortality in children below five years of age in India. The concerned stakeholders are not in agreement about the role of product based medical nutrition therapy in the management of this condition.     

门静脉海绵样变性的外科诊断与治疗

目的探讨小儿门静脉海绵样变性(CTPV)的诊断和治疗方法。方法1998年6月~2004年8月收治CTPV患儿21例,其中15例因上消化道出血、4例因脾大、2例因腹胀并发热入院。5例次采用脾切除 贲门周围血管离断(断流)、2例次采用断流 脾肾静脉分流、断流 肠系膜上静脉-下腔静脉分流、脾肺固定各7例次、肠系膜上静脉-下腔静脉分流6例次、经胸断流加大网膜包肺5例次。结果21例分别行各种手术31例次,无手术死亡,随访6个月~6年,症状明显改善。结论临床分型有助于手术方式的选择,门-奇断流加门-体分流术是本病最佳治疗方案。     

儿童原发性高血压的诊断和治疗

1　原发性高血压的诊断要点成人高血压被定义为在未服高血压药和安静情况下持续血压≥ 18 6 / 12 0kPa。而儿童高血压的界定需考虑年龄、性别和身高对血压的影响。 1990年美国第二届儿童血压控制专题工作组会议对儿童血压评定为 :正常血压为收缩压和舒张压小于同年龄、性别及身高儿童血压的第 90百分位 ;临界高血压为 90～ 95百分位 ;高于 95百分位为高血压。在对儿童血压作出评价前 ,重要的是正确测量血压。正确的测量方法是 :根据被测儿童手臂大小选择合适的袖带 ,即袖带的气囊应环绕上臂周长的 80 %～ 10 0 % ,宽度为上臂周长的 4 0 % …     

儿童肾性高血压的诊断和治疗

儿童时期的高血压以继发性高血压为多 ,约占所有高血压患儿的 80 % ,继发性高血压中以肾性高血压为主。肾性高血压分肾实质性高血压和肾血管性高血压两大类 ,肾实质性高血压约占所有继发性高血压的 80 % ,肾血管性高血压约占继发性高血压的 12 % ,其中以肾动脉狭窄最常见。新生儿高血压中约 93%为肾血管性疾病 ,有人认为与近年来较多地采用保留脐动脉导管引起脐动脉血栓有关[1] 。1　临床表现儿童肾性高血压在临床上有时常无明显症状 ,患儿血压增高多于体格检查或肾脏病常规检查时才被发现。当血压明显持续增高时 ,可出现头晕、头痛、恶心、…     

小儿腹内高压和腹腔间室综合征的诊断与治疗

腹内高压(IAH)和腹腔间室综合征(ACS)是临床危重征象,有较高的发病率和病死率,近年来逐渐引起临床医师的重视。若不能早期认识IAH的存在,并给予及时处理,将很快进展到ACS,导致多器官衰竭,乃至死亡。现就IAH/ACS的定义、诊断与治疗等方面作一介绍。     

Workshop report: developing a pediatric inflammatory bowel diseases network and data platform in Canada

The purpose of the workshop was to receive input from the Canadian pediatric inflammatory bowel diseases research community to develop a research funding opportunity for a Canadian pediatric inflammatory bowel diseases network and data platform supported by the Canadian Institutes for Health Research, in partnership with the Foundation for Children with Intestinal and Liver Disorders. Leaders from across the country came together, with the objectives of identifying the scientific goals for a Canadian pediatric inflammatory bowel disease network, the required infrastructure, and an appropriate governance structure needed to achieve such a network and data platform, as well as other elements needed to ensure the successful implementation of a network.     

Consensus on a core curriculum in American training programs in pediatric hematology-oncology: a report from the ASPHO Training Committee

The Training Committee (TC) of the American Society of Pediatric Hematology/Oncology created a foundation of common goals and objectives that could provide a structure for fellowship programs. The TC conducted a survey of program directors for input into the structure of their programs and training methods and the results are presented here. Additionally, a suggested core program is outlined, taking into account the new common requirements as stipulated by the ACGME and ABP, and additional suggestions from the program directors. This paper highlights the suggested training objectives and educational opportunities that should be afforded all fellows in this sub-specialty. The goal of this consensus statement is to provide a model curriculum to improve quality and consistency of training and achieve compliance with new requirements while simultaneously recognizing the importance of alternative approaches that emphasize each program's unique strengths and character.     

Menetrier's disease in children: report of a case and review of the pediatric literature

A case of Menetrier's disease (giant hyperplasia of the gastric mucosa) in a 2-day-old infant is presented. The lesion was primarily confined to the gastric antrum. It resulted in outlet obstruction and necessitated partial gastrectomy. The pertinent literature is critically evaluated, and probably only 2 of the 9 previously reported cases of Menetrier's disease in children qualify fully.     

儿童胸膜肺母细胞瘤38例诊治分析

目的探讨儿童胸膜肺母细胞瘤的发病年龄、临床表现、病理分型及特点、治疗原则及预后情况。方法回顾性研究自2002年3月至2018年3月期间首都医科大学附属北京儿童医院收治的38例胸膜肺母细胞瘤患儿临床资料,并进行统计描述。结果38例中男18例,女20例;首诊诊断为非肿瘤性病变者占比47.4%(18/38),从出现症状到手术或化疗干预的时间范围为5~210 d;Ⅰ型4例(10.5%),中位诊断年龄22个月;Ⅱ型12例(31.6%),中位诊断年龄37个月;Ⅲ型22例(57.9%),中位诊断年龄39.5个月。治疗方式包括手术及化疗。术中见肿瘤最大直径为2~18 cm,手术时间25~210 min,术中出血量2~500 mL(1例出血500 mL病例于术中行胸膜剥脱术);化疗方案多采用IVADo(异环磷酰胺+阿霉素+长春新碱+放线菌素D)和IVA(异环磷酰胺+长春新碱+放线菌素)方案,5年无瘤生存率为69.2%。结论胸膜肺母细胞瘤是一种较为罕见的儿童恶性肿瘤,临床表现缺乏特异性,误诊率高,预后较差,需要手术与化疗联合进行治疗。儿科医生应该充分认识到PPB的严重性,对于出现气胸、多发部位肺囊性病变、肺囊肿家族史、PPB家族史、DICER1家族性综合征的胸腔占位性病变患儿应警惕本病的可能,并做到严密监测及随访。     

儿童后肾腺瘤五例报告

目的 探讨儿童后肾腺瘤临床病例特点,提高对儿童后肾腺瘤的认识.方法 回顾性分析2008年5月至2016年1月收治的5例儿童后肾腺瘤的临床资料,并进行文献复习.5例患儿中,男4例,女1例;年龄小于2岁2例,8～10岁3例;肿瘤位于左侧2例,右侧3例.以腹部包块就诊1例,超声偶然发现4例.术前均行超声和增强CT,2例考虑肾母细胞瘤,2例考虑肾细胞癌,1例考虑肾囊肿合并出血.结果 肿瘤直径小于5 cm者4例.行保留肾单位的肿瘤剜除术3例,行瘤肾切除术2例.病理检查报告:后肾腺瘤4例,后肾腺瘤合并乳头状肾细胞癌1例.术后平均随访4年5个月,均无复发和转移.结论 后肾腺瘤罕见,临床表现及影像缺乏特异性,术前诊断困难,确诊依靠病理及免疫组织化学.后肾腺瘤为良性病变,手术完整切除为治疗原则.有合并恶性成分的病例报道,术后需长期随诊复查.     

Prognostic factors in 951 nonmetastatic rhabdomyosarcoma in children: a report from the International Rhabdomyosarcoma Workshop

A total of 951 newly diagnosed patients with nonmetastatic rhabdomyosarcoma (RMS) under 21 years of age from four different cooperative study groups were analyzed to identify the most important pretreatment tumor characteristics in predicting survival. The patient characteristics considered were tumor invasiveness (T), tumor size, status of locoregional lymph nodes, and primary site. The cooperative groups and studies analyzed were: SIOP [RMS-75 (1975-1984)], the Intergroup Rhabdomyosarcoma Study [IRS-II (1978-1982)], Federal Republic of Germany [CWS-81 (1981-1986)] and Italy [RMS-79 (1979-1986), each study involving a different therapeutic protocol. Patient characteristics identified as having a significant relationship to survival by univariate analysis were (favorable features given in brackets): tumor invasiveness [T1], tumor size [less than or equal to 5 cm], status of locoregional lymph nodes [clinically negative], and primary site [orbit and genitourinary non-bladder prostate (GU-non-BP) sites]. T2 tumors tended to have large size (greater than 5 cm), to be associated with positive nodes, and to have a different distribution by primary site than T1 tumors. A multivariate Cox regression analysis of the pooled data identified tumor invasiveness (T), primary site, and the interaction between T and primary site as significant predictive factors for survival. The prognosis of orbital tumors was consistently favorable regardless of T status, whereas the prognosis for "other sites" was consistently unfavorable. International cooperation in this study has permitted the identification of good and poor risk patient subgroups, permitting the focusing of therapeutic protocols to particular risk groups and setting the stage for common future therapeutic protocols for rare subgroups of patients.