新生儿枫糖尿病一例及其基因突变分析

目的 分析1例汉族经典型枫糖尿病新生儿的临床特点及其相关基因的致病性突变.方法 患儿男,生后8d因喂养困难于2013年4月转来上海交通大学附属儿童医院,收集患儿的临床资料及影像学检查等明确诊断后,提取患儿及其父母的外周血白细胞DNA检测BCKDHA、BCKDHB、DBT和DLD基因,确定患儿的基因突变位点,并进行生物信息学分析.结果 患儿表现为生后喂养困难、抽搐、代谢性酸中毒、尿有枫糖味等,CT示广泛脑白质低密度改变,串联质谱及尿气相色谱-质谱均符合枫糖尿病的诊断.基因测序结果在BCKDHB基因上发现2个错义突变:c.580 C＞T(p.Leu194Phe)和c.597 T＞G(p.Ser199Arg),均为杂合子,且为国际上未报道过的新突变.经Sanger测序发现其父亲携带了错义突变p.Leu194Phe,其母亲携带了错义突变p.Ser199Arg,符合家系共分离规律.PolyPhen蛋白功能预测发现此2个错义突变为有害的,很可能影响其蛋白功能.结论 BCKDHB基因c.580 C ＞T(p.Leu194Phe)和c.597 T＞G(p.Ser199Arg)复合杂合突变是该患儿的致病性突变,是该枫糖尿病患儿临床表现的基因分子基础,且为国际上未报道过的新突变.     

代谢性心肌病

心肌代谢活跃,代谢紊乱导致心肌能量产生不足,引起心肌病变。先天性代谢缺陷是儿童心肌病常见病因之一,表现为肥厚型或扩张型心肌病等类型,导致心力衰竭或心源性休克,甚至猝死。据报道,可引起心肌病的先天性代谢缺陷有40余种,包括脂肪酸氧化障碍、糖原累积病、溶酶体贮积病、线粒体病、有机酸血症、肌酸病和先天性糖基化障碍等。存在多系...     

Children with screening-detected coeliac disease show increased levels of nitric oxide products in urine

Aim: Increased concentration of nitric oxide (NO) metabolites, nitrite and nitrate, in the urine is a strong indication of ongoing small intestinal inflammation, which is a hallmark of the enteropathy of coeliac disease (CD). It has previously been shown that children with symptomatic, untreated CD have increased levels of NO oxidation products in their urine. The aim of this study was to investigate whether screening‐detected, asymptomatic coeliac children display the same urinary nitrite/nitrate pattern. Methods: In a multicenter screening study, serum samples were collected from 7208 12‐year‐old children without previously diagnosed CD. Sera were analysed for anti‐human tissue transglutaminase (tTG) of isotype IgA. Small bowel biopsy was performed in antibody‐positive children, yielding 153 new cases of CD. In the screening‐detected individuals, the sum of nitrite and nitrate concentrations in the urine was analysed and used as an indicator of NO production. For comparison, 73 children with untreated, symptomatic CD were studied. Results: The nitrite/nitrate levels in children with screening‐detected CD and those with untreated symptomatic CD did not differ significantly. Both groups had significantly increased urinary nitrite/nitrate concentrations compared to the children with normal small bowel biopsy (p < 0.001). Conclusion: Children with screening‐detected CD have increased production of NO just as children with untreated symptomatic CD. High NO metabolite levels in the urine may indicate a pathogenetic feature of CD and be a marker of major clinical importance.     

Very high serum ferritin levels in three newborns with Kawasaki-like illness

Kawasaki disease (KD) is an inflammatory condition of unknown etiology that affects children, with a peak incidence in the second year of life. KD is uncommon in the first year of life and is rare in the newborn period.The present report describes three newborn infants who were admitted to hospital with fever and nearly identical clinical features of generalized inflammation. The presentations did not meet the criteria for KD; however, all three patients responded promptly and completely to intravenous immunoglobulin treatment. Specifically, the association of these presentations with very high levels of serum ferritin is reported. The authors propose that this clinical syndrome represents a variant of KD, and that serum ferritin level may be a useful marker in diagnosing KD and its variants. Additionally, the association of this clinical picture with very high serum ferritin levels raises the possibility of a link with hemophagocytic lymphohistiocytosis.     

Total severance of renal pedicle caused by blunt trauma in children

In two children complete severance of the renal vascular pedicle was the consequence of falling from a considerable height. Pre-operative diagnosis was established by retrograde aortography. In both these children there were additional injuries; one child had a splenic injury, the other a liver injury. One child survived but the other died. The importance of utilising retrograde aortography to define the nature of the injury is discussed in the context of a critical clinical situation necessitating emergency surgery.     

Gastroenteritis caused by Edwardsiella tarda in a pediatric renal transplant recipient

Abstract:  Edwardsiella tarda , a member of the family Enterobacteriaceae , is a Gram-negative bacillus that is most often pathogenic in aquatic environments. Human infections with Edwardsiella are rare, with most occurring in immunocompromised or immunosuppressed hosts. Reported infections include meningitis, cholecystitis, endocarditis, osteomyelitis, soft tissue infections, bacteremia and septicemia, dysentery, and gastroenteritis. This report describes a case of E. tarda gastroenteritis in a renal transplant patient receiving immunosuppressive therapy. The epidemiology, diagnosis, clinical presentation, and treatment options pertaining to E. tarda infections are examined.     

儿童肾动脉纤维肌发育不良致难治性高血压1例报告

目的探讨儿童肾动脉纤维肌发育不良(FMD)致难治性高血压的临床特点、诊断和治疗。方法回顾分析1例FMD致难治性高血压患儿的临床资料。结果患儿,男,4岁起病,以血压明显升高为突出表现,同时伴血钾降低,肾素、血管紧张素明显升高,经血管彩色超声和胸腹增强CT加血管重建,诊断为肾血管性高血压。经口服多种降压药效果欠佳,行肾血管造影后诊断为FMD所致难治性高血压。因不宜手术,调整降压方案,血压趋于稳定。连续随访8年,每年调整降压方案并动态评估血压波动及靶器官受损情况。结论儿童FMD所致肾血管性高血压初期可无特异性表现,首选药物治疗,并可考虑外科治疗。     

Hypothyroidism caused by iodine deficiency and iodine levels in enteral formulas

Background: A 4‐year‐old female patient was diagnosed with hypothyroidism caused by iodine deficiency. The patient's iodine levels in serum and urine were significantly low. The iodine concentration in the enteral formula was 1.6 µg/100 kcal as measured by inductively coupled plasma mass spectrometry. The patient's iodine intake while receiving the enteral formula was calculated to be 16 µg/day, which is much lower than the recommended dietary reference intake of 80 µg for children aged 3–5 years. The purpose of this study was to assess iodine concentrations in 20 enteral nutritional formulas available in Japan in order to assess whether low iodine concentration is a characteristic of one specific formula or whether it is a more prevalent problem. Methods: Iodine concentrations in 20 popular nutritional formulas available in Japan, for which iodine content is not indicated in the ingredient list, were analyzed with inductively coupled plasma mass spectrometry. Results: Iodine concentrations were less than 5 µg/100 kcal and less than 10 µg/100 kcal in 13 and 18 enteral nutritional formulas, respectively. Conclusions: Most of the enteral nutritional formulas analyzed had low iodine concentrations. These findings suggest that iodine deficiency is a likely outcome in patients who receive these formulas for a prolonged period.     

川崎病致肾动脉损害的探讨

目的探讨川崎病(KD)对肾动脉造成的损害。方法 43例KD患儿纳入研究,根据其急性期血压分为血压正常和血压升高两个亚组;18例急性上呼吸道感染发热患儿作为对照(简称上感组)。比较组间肾动脉主干起始部内径、肾主动脉和叶间动脉血流动力学参数及肾素活性、血管紧张素Ⅱ和醛固酮水平。结果急性期KD两个亚组肾动脉主干起始部内径小于上感组,肾主动脉阻力指数(RI)大于上感组,舒张末期最低流速(EDV)小于上感组(P0.05);血压升高亚组肾叶间动脉EDV小于血压正常亚组,RI大于血压正常亚组和上感组,其肾素活性、血管紧张素Ⅱ及醛固酮水平均较血压正常亚组高(P0.05)。亚急性期血压升高亚组肾叶间动脉EDV高于急性期,RI值低于急性期(P0.05)。结论 KD可导致肾动脉损伤及早期血流动力学改变,并使部分病例出现暂时性血压升高现象。     

内分泌疾病相关的电解质紊乱及救治措施

内分泌疾病由于机体内分泌激素的异常可导致电解质紊乱,这将不同程度损害机体的健康,如不能及时正确认识疾病并给予有效的处理措施,严重者可危及生命。本文概述了内分泌疾病相关的电解质紊乱及相应的救治措施,希望引起临床医生的重视,有效提高临床医师的诊治能力。     

免疫性血管炎致动脉粥样硬化的实验研究

目的　探讨免疫性血管炎与动脉粥样硬化 (AS)发生的关系。方法　 4周龄日本大耳幼年家兔 6 1只及 4月龄成兔 10只分为 6组。用 10 %牛血清清蛋白重复静脉注射诱发免疫性血管炎 ,并喂饲胆固醇饲料。A组 :血管炎幼兔冠脉造影组 2 7只 ;B组 :正常成年兔冠脉造影对照组 10只 ;C组 :正常幼兔冠脉造影对照组 10只 ;D组 :血管炎加胆固醇喂饲组 8只 ;E组 :单纯胆固醇喂饲对照组 8只 ;F组 :基础喂饲对照组 8只。实验满 4周后A、B、C三组行冠状动脉造影 ;满 12周后D、E、F三组分别取心脏做主动脉冠状动脉组织病理学检查。结果　A组中 6只出现明显冠状动脉扩张 ,B组和C组冠脉无扩张。D组出现严重AS ,表现为脂质斑块厚 ,隆起于内膜表面。E组仅出现轻度AS ,表现为脂质斑块薄 ,且主要集中于主动脉根部。D组与E组比较 ,其脂质斑块面积百分比 (PA)、冠状小动脉粥样硬化发生率 (IA)和冠状动脉管腔狭窄程度 (DS)均有显著性差异 (P <0 .0 1)。F组无AS改变。结论　血清性免疫血管炎急性期可致部分幼兔冠状动脉扩张 ,并可显著加重胆固醇喂饲家兔AS形成。免疫性血管炎是AS和缺血性心脏病发生新的危险因素     

冠状动脉造影追踪观察川崎病引起的巨大冠状动脉瘤

目的 探讨川崎病(KD)导致的巨大冠状动脉瘤(GCAA)的中远期变化特点,为此类儿童进入青少年期后心血管意外事件的防治提供依据.方法 采用冠状动脉造影(CAG)、超声心动图及心电图检查对12例急性期合并GCAA的KD患儿[男10例,女2例;发病年龄1～10(4.05±2.50)岁]进行2～10年追踪观察,分析该组患儿冠状动脉损害的变化特点.结果 本组患儿除2例急性期超声心动图诊断为单发右冠状动脉巨大瘤外,其余10例均为双侧多发冠状动脉瘤.随访CAG发现8例出现右冠状动脉节段性狭窄,其中右冠状动脉闭塞并桥样新生血管形成3例,多节段局域性狭窄4例,右冠状动脉全程编织样损害(血栓性闭塞并簇状新生血管)1例.本组9例冠状动脉瘤经治疗后仍有不同程度的存在,其中4例左前降支瘤远端血流充盈明显减慢.仅1例患儿(1/12) CAG见双侧冠状动脉瘤回缩至轻度扩张,未见狭窄及其他改变.本组12例患儿随访2 ～ 10年,均无自觉症状,活动未受限.静息心电图1例发现病理Q波,其余11例结果正常.静息心电图正常的11例患儿行药物负荷心电图检查仅1例出现多导联S-T段下移及T波低平;与同期CAG比较,超声心动图检出12例患儿冠状动脉近段形态改变,5例发现可疑室壁运动异常,但对观察冠状动脉中、远段狭窄欠敏感;对4例冠状动脉闭塞并新生血管形成的病例,超声观察均未能提示.结论 KD引起的GCAA损害可在急性期后长期存在.表现为GCAA持续存在、回缩、冠状动脉闭塞、局部狭窄及血管再形成等.本病缺乏临床表现,常规心电图及超声心动图对KD后遗症期冠状动脉形态及功能损害检查欠敏感,CAG对本病的追踪观察有重要价值.     

肠道病毒71型感染致中枢神经系统损害的研究进展

肠道病毒71型（EW1）感染轻症者可引起手足口病、疱疹性咽峡炎等,但由于EV71的高度嗜神经性,其导致的一系列神经系统损害症状较其他肠道病毒多见且病情严重,重症者可出现急性肺水肿、肺出血和心肺功能衰竭等.本文就EV71感染致中枢神经系统损害的临床表现、发病机制等进行综述.