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The diagnosis of pre-symptomatic diseases 症状前疾病的诊断
Pub Date : 2022-01-01 DOI: 10.7199/PED.ONCALL.2022.9
S. Pimenta, A. R. Soares, Sara Soares, L. Machado
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引用次数: 0
Tenofovir and Hepatitis B - How to manage? 替诺福韦和乙型肝炎-如何管理?
Pub Date : 2022-01-01 DOI: 10.7199/ped.oncall.2022.38
Yash Sonagra, I. Shah
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引用次数: 0
Intriguing Acute Abdomen and Covid-19 in children : A case report 儿童耐发性急腹症与Covid-19 1例报告
Pub Date : 2022-01-01 DOI: 10.7199/ped.oncall.2023.18
N. Amenzoui, K. Gharib, S. Kalouche, A. Chlilek, F. Ailal, A. Bousfiha
Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) is a worldwide pandemic, manifested commomly by infectious pneumonia, some patients also develop gastrointestinal (GI) and hepatic manifestations. To understand the clinical features and possible pathogenic mechanisms leading to gastrointestinal lesions in COVID-19 to formulate therapeutic strategy. Thus, we report the case of a girl with an acute febrile digestive picture revealing COVID19 infection, having direct contact with a COVIDpositive person. Surgical exploration was performed when white, on the balance sheet a PCR covid was negative and serology covid 19 (IgM positive and IgG positive). In conclusion, we are slowly starting to understand the complex pathogenesis of SARS-CoV-2 infections. The widespread organospecific complications of COVID-19, including those of the gastrointestinal system, are now increasingly appreciated. A thorough understanding of the gastrointestinal damage and clinical manifestations of this multi-organ disease remains imperative. Introduction Severe acute respiratory syndrome coronavirus 2 (SARS CoV 2) is a global pandemic, manifested mainly by respiratory symptoms. An increasing number of extra-pulmonary symptoms and manifestations linked to COVID-19 have been observed, including gastrointestinal (GI) and hepatic manifestations. Very few adult case series have reported acute abdomen as a symptom of SARS-COV-2 infection.1 The objective of our work is to update physicians working with suspected cases of the Covid-19 on acute abdominal events. Case Report This is a 9-year-old head girl, with no significant past medical history, having direct contact with his mother who was covid positive two weeks before, admitted for an acute abdomen with shock. The history of the disease dates back to a week before its admission with fever over 39° C, complicated three days later by diffuse acute abdominal pain associated with watery diarrhea and vomiting post meals, without associated respiratory symptoms. The child was initially admitted in pediatric resuscitation in shock, on clinical examination she was drowsy with Glasgow 12/15, febrile at 39° C, capillary refill time above 3 seconds, tachycardia of 160 beats per minute, polypnea to 53 cycles per minute, 96% oxygen saturation in room air, blood pressure at 80 / 60mmg, severe abdominal pain generalized on palpation associated with contracture of the abdominal muscles, without hepatomegaly or splenomegaly. After the conditioning, an abdominal ultrasound was performed and showed a hypoecogenic ledure in favour of an intraperitoneal fluid effusion of medium abundance. Faced with this clinico-radiological picture, peritonitis was suspected but the surgical exploration carried out urgently, came back unremarkable. Biologically, we note the presence of a high crp, high ferritinémia, lymphopenia, as well as thrombocytopenia. More details are given in Table 1. Table 1. Hematological and Biochemical profile of the our patien
严重急性呼吸系统综合征冠状病毒-2 (SARS-CoV-2)是一种全球性的大流行疾病,通常表现为传染性肺炎,部分患者也出现胃肠道和肝脏表现。了解新冠肺炎患者胃肠道病变的临床特点及可能的致病机制,制定治疗策略。因此,我们报告了一名与covid - 19阳性患者直接接触的女孩,她的急性发热消化图片显示她感染了covid - 19。当资产负债表上的PCR covid呈阴性和血清学covid 19 (IgM阳性和IgG阳性)呈白色时,进行手术探查。总之,我们正在慢慢开始了解SARS-CoV-2感染的复杂发病机制。COVID-19广泛存在的器官特异性并发症,包括胃肠道并发症,现在越来越受到重视。对这种多器官疾病的胃肠道损害和临床表现的彻底了解仍然是必要的。严重急性呼吸综合征冠状病毒2型(SARS CoV 2)是一种全球性大流行疾病,主要表现为呼吸道症状。已观察到越来越多与COVID-19相关的肺外症状和表现,包括胃肠道(GI)和肝脏表现。很少有成人病例系列报告急性腹部是SARS-COV-2感染的症状我们的工作目标是向处理Covid-19疑似病例的医生提供有关急性腹部事件的最新信息。病例报告这是一名9岁的女校长,没有明显的既往病史,与两周前感染covid阳性的母亲有直接接触,因急腹症合并休克入院。病史可追溯到入院前一周,发热超过39°C, 3天后并发弥漫性急性腹痛,伴水样腹泻和餐后呕吐,无相关呼吸道症状。该患儿最初在小儿休克复苏时入院,临床检查时她昏睡,格拉斯哥12/15,发热39°C,毛细血管再充盈时间超过3秒,心动过速160次/分钟,呼吸急促至53次/分钟,室内空气氧饱和度96%,血压80 / 60mg,触诊伴有腹肌挛缩的严重腹痛,无肝或脾肿大。调理后,进行腹部超声检查,显示低生理性,有利于中等丰度的腹腔内液体积液。面对这一临床放射图像,怀疑腹膜炎,但紧急进行手术探查,结果不明显。生物学上,我们注意到存在高crp,高铁蛋白血症,淋巴细胞减少,以及血小板减少。表1给出了更多的细节。表1。患者血液学及生化特征检测结果参考区间CRP 316 mg/l 0.0-5.0铁蛋白1200 /mm3 15-200尿素1.05 g/l 0.13-0.43肌酐26 mg/l 5.7-11.1
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引用次数: 0
Fibrodysplasia Ossificans Progressiva - Recognising the Early features and Avoid Doing Harm 进行性骨化性纤维发育不良-识别早期特征,避免伤害
Pub Date : 2022-01-01 DOI: 10.7199/PED.ONCALL.2022.11
Natalie Ho, M. Lam, W. Chan
Fibrodysplasia ossificans progressive (FOP) is an extremely rare noninflammatory disease that involves heterotrophic bone formation after tissue injury. Diagnosis of FOP is based on clinical suspicion for children presenting with bilateral hallux valgus and acute soft tissue swelling after trauma. Genetic analysis for mutation of the ACVR1 gene is considered a confirmatory test. We present 2 children with FOP that were diagnosed at seven years and twenty months of age respectively. The first patient presented with acute tissue swelling over the back and an incidental finding of hallux valgus. Genetic study revealed heterozygous c617G>A mutation in exon 4 of the ACVR1 gene suggestive of FOP. She had several relapses, and management pitfalls are highlighted. This first case alerted early diagnosis of FOP in a twentymonth-old boy with bilateral hallux valgus. Introduction Fibrodysplasia ossificans progressive is a rare noninflammatory disease involving genetic mutation of the ACVR1 gene, characterised by heterotopic bone formation and recurrent episodes of painful soft tissue swelling that arises spontaneously or is triggered by minor trauma.1 As with almost all rare diseases, there are various scientific and medical challenges in FOP diagnosis and management. As trauma is a stimulant event, biopsy and surgical interventions can cause devastating results at the site of ossification. Thus, it is essential to recognise early features of FOP including bilateral hallux valgus and recurrent soft tissue swelling and avoid tissue biopsy in suspected cases. We present 2 children with FOP and the management issues. Case 1 A 7-year-old girl presented with progressive left upper back swelling for three weeks after a minor contusion against the table corner. She had a history of mild bilateral conductive hearing impairment, otherwise unremarkable past health. Physical examination revealed mild scoliosis with diffuse swelling, erythema, and tenderness over the left paraspinal muscles. There was reduced movement over her back in all directions, especially over left lateral flexion, and reduced range of movement of both hips on internal and external rotation. Bilateral hallux valgus was noted. Autoimmune markers including anti-nuclear antibody, rheumatoid factor and anti-extractable nuclear antigen were negative. Magnetic resonance imaging (figure 1) revealed T2 hyper-intensity with soft tissue swelling around both scapulae, more severe over the left side. Bony structures appeared unremarkable. She was initially managed with regular physiotherapy for suspected muscle strain and treated with nonsteroidal anti-inflammatory drugs (NSAIDS) to control the inflammation. The treatment did not reduce the muscle discomfort, but stretching exercise aggravated the extent of muscle pain and subsequent “disease flared” over her right sternocleidomastoid muscle. The diagnosis of FOP was then considered. Genetic study revealed heterozygous c617G>A mutation in exon 4 of the ACVR1
进行性骨化性纤维发育不良(FOP)是一种极其罕见的非炎症性疾病,涉及组织损伤后异养骨形成。FOP的诊断是基于临床怀疑,以双侧拇外翻和创伤后急性软组织肿胀为表现。ACVR1基因突变的遗传分析被认为是一种确证性测试。我们报告了两名分别在7岁和20个月时被诊断为FOP的儿童。第一个病人出现急性组织肿胀在背部和偶然发现拇外翻。遗传研究发现ACVR1基因外显子4杂合c617G>A突变提示FOP。她有几次复发,并强调了管理缺陷。这第一个病例提醒早期诊断FOP在一个20个月大的男孩与双侧拇外翻。进行性骨化纤维发育不良是一种罕见的非炎症性疾病,涉及ACVR1基因突变,其特征是异位骨形成和反复发作的软组织疼痛肿胀,自发产生或由轻微创伤引发与几乎所有罕见病一样,FOP的诊断和管理面临各种科学和医学挑战。由于创伤是一种刺激事件,活检和手术干预可能在骨化部位造成毁灭性的结果。因此,必须认识到FOP的早期特征,包括双侧拇外翻和复发性软组织肿胀,并避免在疑似病例中进行组织活检。我们报告了2例FOP患儿及其管理问题。病例1:一名7岁女孩,在桌角轻微挫伤后出现进行性左上背部肿胀3周。她有轻度双侧传导性听力障碍病史,其他健康状况不显著。体格检查显示轻度脊柱侧凸伴弥漫性肿胀、红斑和左侧棘旁肌压痛。患者背部各方向活动减少,尤其是左侧屈,内外旋时双髋活动范围减小。双侧拇外翻。自身免疫标志物包括抗核抗体、类风湿因子和抗可提取核抗原均为阴性。磁共振成像(图1)显示T2高强度伴双侧肩胛骨周围软组织肿胀,左侧更为严重。骨骼结构未见明显变化。她最初因疑似肌肉拉伤接受常规物理治疗,并使用非甾体抗炎药(NSAIDS)控制炎症。治疗并没有减轻肌肉不适,但伸展运动加重了肌肉疼痛的程度,随后在她的右侧胸锁乳突肌上“疾病爆发”。然后考虑FOP的诊断。遗传研究发现ACVR1基因外显子4杂合c617G>A突变。ACVR1编码激活素A受体I型/激活素样激酶2,一种骨形态发生蛋白I型受体建立了进行性骨化性纤维发育不良的诊断。由于父母双方都没有这种突变,所以很可能是散发性病例。随后疾病发作累及右胸和右髂骨,然后是左胸壁,接着是左肩,然后是右臂和左大腿。目前她17岁。在发作期间,患者有急性进行性肿胀、压痛、红斑,受累部位活动范围有限,有无外伤史。短期高剂量静脉注射或口服皮质类固醇用于急性发作。尽管如此,进行性骨化还是无法阻止。她目前有明显的中轴骨固定,并伴有严重的后凸。她的脊椎呈60度弯曲,颈部呈10度过度伸展。她有严重的小颌症,下巴后缩。她的脊柱x线片(图2a)显示L3-5椎体上有骨膜新生骨。骨盆x线片(图2b)显示双侧髋臼发育不良,右髋关节和髋大椎多发性骨化。颈椎x线片(图2c)显示从C2到C7的神经弓融合。颈过伸症及严重小颌症通讯地址:香港特别行政区九龙加士高因道30号伊利沙伯医院儿科何咏彤医生。电邮:mandylamhiuching@gmail.com©2021 Pediatric Oncall文章历史2021年5月28日收稿2021年8月20日收稿
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引用次数: 0
Are Emergency Department Visits Missed Opportunities for Secondary Diagnosis 急诊就诊是否错过了二次诊断的机会
Pub Date : 2022-01-01 DOI: 10.7199/PED.ONCALL.2022.32
S. Costa, G. Lopes
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引用次数: 0
Incidence and pattern of neurologic emergencies in children at the mother and child center of the chantal biya foundation chantal biya基金会母婴中心儿童神经急症的发生率和模式
Pub Date : 2022-01-01 DOI: 10.7199/ped.oncall.2022.47
Jeannette Epée Ngoué, Suzanne Sap Ngo Um, Jocelyn Tony Nengom, I. M. Nkwele, Helene Kamo Doka, Madeleine Onguene Ngambi, E. Epée, H. M. Awa
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引用次数: 0
Evaluation of inhaler use technique in a pediatric appointment 评估吸入器使用技术在儿科预约
Pub Date : 2022-01-01 DOI: 10.7199/ped.oncall.2022.26
J. Ribeiro, Carolina dos Santos Folques Alves, M. M. Zarcos
Introduction: Inhalers are recommended for asthma prophylactic and crisis therapy. In order to have a good deposition of drugs at pulmonary tissue, the correct use of the devices is necessary. Objective: To verify the inhaler use technique with pressurized metered-dose inhalers (pMDIs) with spacers and dry-powder inhalers (DPIs) in a pediatric sample (ages between 1 and 17 years old). Material and Methods: Descriptive, observational and cross-sectional study. Application of a checklist that included the steps of the correct inhaler use technique, which was performed under physician observation, and other questions related to the use of the devices. Results: We observed a total of 83 inhaler use techniques: 46 pMDIs with spacers and 37 DPIs. About 54% of pMDIs with spacers users and 27% of DPIs users performed the inhaler use technique correctly, p=0.012. The most frequent mistakes in pMDIs with spacers users were: 50% didn’t waste the first puff, 17.4% didn’t shake the device prior to use and 28.3% didn’t wait between inhalations. The mistakes observed in DPIs users were: 43.2% didn’t perform a forced expiration before inhaler use, 13.5% didn’t start with a forced inspiration, 24.3% didn’t pause at the end of inspiration, 32.4% didn’t exhale slowly and 35.1% didn ́t wait between inhalations. Conclusion: Multiple mistakes were observed even in the users who had been followed up for several years. The most frequent mistakes occurred in DPIs users. Thus, the inhaler use technique must always be observed by the physician in all appointments, especially in users of DPIs in which the correct use depends on their autonomy. Introduction Asthma is the most common chronic disease of childhood and is characterized by a chronic airway inflammation.1 It’s a global health problem and its prevalence is increasing.1 Treatment goals are to achieve symptoms control, maintain normal activity levels and minimize risk of exacerbations or sequelae.1 Inhalation is the recommended route for both exacerbations and prophylactic therapy.1,2 There is a wide variety of devices available on the market with different inhaler use technique.3 The selection of the right inhaler must take into consideration the age of the child, inspiratory capacity and collaborative ability.1,4 It is very important that inhaled particles deposit in the lungs, and the only way to achieve it is with a correct inhaler use technique.5 The correct use of devices is associated with the control of asthma.2,4,6 The incorrect use is associated with exacerbations, more use of systemic corticosteroids, more visits to the hospital, absences from school, reduction and limitation of sports activities.5 The aims of this study were to characterize and verify the inhaler use technique with pressurized metereddose inhalers (pMDIs) with spacers and dry-powder inhalers (DPIs). Methods & Materials Descriptive, observational and cross-sectional study. We included all children (between 1 and 17 years old) who used inha
简介:吸入器被推荐用于哮喘预防和危象治疗。为了使药物在肺组织有良好的沉积,正确使用器械是必要的。目的:在1 - 17岁的儿童样本中验证带间隔的加压计量吸入器(pmdi)和干粉吸入器(DPIs)的吸入器使用技术。材料和方法:描述性、观察性和横断面研究。应用清单,其中包括在医生观察下正确使用吸入器的步骤,以及与设备使用有关的其他问题。结果:我们共观察了83种吸入器使用技术:46种pmdi与间隔器和37种dpi。54%使用间隔器的pmdi和27%使用dpi的pmdi正确使用了吸入器技术,p=0.012。在使用间隔器的pmdi患者中,最常见的错误是:50%的人没有浪费第一口烟,17.4%的人在使用前没有摇晃设备,28.3%的人在两次吸入之间没有等待。在dpi使用者中观察到的错误是:43.2%的人在使用吸入器前没有进行强制呼气,13.5%的人没有从强制吸气开始,24.3%的人在吸气结束时没有暂停,32.4%的人没有缓慢呼气,35.1%的人没有在吸气之间等待。结论:即使在随访数年的使用者中也存在多种错误。最常见的错误发生在dpi用户中。因此,在所有预约中,医生必须始终观察吸入器使用技术,特别是在dpi使用者中,正确使用取决于他们的自主性。哮喘是儿童最常见的慢性疾病,以慢性气道炎症为特征这是一个全球性的健康问题,而且发病率正在上升治疗目标是实现症状控制,维持正常活动水平,并尽量减少恶化或后遗症的风险吸入是加重和预防性治疗的推荐途径。市场上有多种不同的吸入器使用技术正确吸入器的选择必须考虑儿童的年龄、吸气能力和协作能力。吸入的微粒在肺部沉积是非常重要的,实现这一目标的唯一途径是正确使用吸入器技术设备的正确使用与哮喘的控制有关。2,4,6不正确的使用与病情加重、更多地使用全身性皮质类固醇、更多地去医院、缺课、减少和限制体育活动有关本研究的目的是表征和验证带间隔的加压计量吸入器(pmdi)和干粉吸入器(dpi)的吸入器使用技术。方法与材料描述性、观察性和横断面研究。我们纳入了所有使用吸入疗法的儿童(1至17岁),并在其护理人员同意后在我们医院的儿科预约进行随访。研究持续时间为2个月(2018年10月和11月)。我们观察吸入器使用技术使用样品装置在儿科会诊。我们使用了一个检查表(基于文献>sup>3,4)来验证所有步骤是否正确执行。为了定义一种正确的技术,我们考虑了表1和3中列出的所有步骤,除了pmdi中第一次吞吐的浪费。之后,我们向儿童和护理人员提出了关于使用pmdi与间隔器和dpi相关的问题。使用SPSS 22®进行描述性和双变量统计分析,我们使用卡方检验和Fisher确切检验(α = 0.05)。通信地址:Joana Cleto Duarte da Costa Ribeiro, Rua da Figueira, 38号,Ericeira. 2655431 Ericeira。葡萄牙。电子邮件:joana-ribeiro@campus.ul.pt©2021 Pediatric Oncall文章历史2021年9月30日收到2021年11月29日接受
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引用次数: 0
Role of Valganciclovir in Neonatal Hepatitis with Cytomegalovirus 缬更昔洛韦在新生儿巨细胞病毒肝炎中的作用
Pub Date : 2022-01-01 DOI: 10.7199/PED.ONCALL.2022.6
R. Uppuluri, I. Shah
Cytomegalovirus (CMV) is an important cause of neonatal hepatitis. Untreated, though hepatomegaly may spontaneously regress, these children may develop portal hypertension and chronic liver disease. Also, these children can progress to develop biliary atresia. Long term sequelae may be sensorineural deafness and intellectual impairment. Role of ganciclovir and its prodrug valganciclovir for treatment of congenital CMV infection is not completely established. There have been few case series and case reports that have documented resolution of CMV hepatitis on treatment with ganciclovir. However, there is very little literature on role of valganciclovir in neonatal CMV hepatitis. We report for the first time in India, effectiveness of valganciclovir in 3 infants with neonatal hepatitis and CMV. All 3 infants in age group of 2-4 months with neonatal hepatitis and variable CMV viral load were treated with oral valganciclovir (125250 mg/m2/day) for 6 weeks and had clinical improvement and undetectable viral load at the end of therapy. One patient however developed long term sequelae of CMV in form of sensorineural deafness and delayed development. Thus, valganciclovir appears safe and effective in neonatal hepatitis with CMV. However, randomized controlled trials in larger groups are required to determine its efficacy. Introduction Cytomegalovirus (CMV) is the most common cause of congenital infection in humans.1,2 Severe jaundice and granulomatous hepatitis have been established due to neonatal CMV infection.3,4 Isolated neonatal hepatitis with CMV has been reported in literature but response to antivirals has been encouraging.5,6,7,8,9,10 We present 3 infants with neonatal hepatitis and associated CMV and their response to valganciclovir. Case 1: A 21⁄2 months old boy presented with jaundice and clay-colored stools since birth. Baby was born at 34 weeks by caesarean section in view of premature labour, had a birth weight of 1.75 kg and was put in neonatal intensive care unit (NICU) for 7 days. On examination, weight was 2.75 kg, length was 47 cms and head circumference was 35 cms. He had hepatosplenomegaly and umbilical hernia. Other systems were normal. Investigations are depicted in Table 1. Liver biopsy showed balloon degeneration of hepatocytes with multinucleated giant cells without inclusion bodies. In view of CMV infection, child was started on oral Valganciclovir (250 mg/m2/dose BD for 21 days, and then 125 mg/m2/dose BD for 21 days) following which liver function tests improved at end of 6 weeks (Bilirubin = 1.2 mg/dl, SGPT = 62 IU/L, Total proteins = 6.1 gm/dl, Albumin = 3.8 gm/dl), CMV viral load was undetectable. At 8 months of age, child is asymptomatic. Case 2: A 3-month-old girl was referred in view of jaundice. There were no clay-colored stools. She was born at 9 months gestation with birth weight of 2.75 kg and had achieved milestones appropriately for age. On examination, weight was 4 kg, length was 60 cms. She had with jaundice wit
巨细胞病毒(CMV)是新生儿肝炎的重要病因。如果不治疗,尽管肝肿大可能自发消退,但这些儿童可能发展为门脉高压和慢性肝病。此外,这些儿童可能发展为胆道闭锁。长期的后遗症可能是感觉神经性耳聋和智力障碍。更昔洛韦及其前药缬更昔洛韦治疗先天性巨细胞病毒感染的作用尚未完全确定。很少有病例系列和病例报告记录了更昔洛韦治疗CMV肝炎的解决方案。然而,关于缬更昔洛韦在新生儿巨细胞病毒性肝炎中的作用的文献很少。我们首次在印度报道了缬更昔洛韦治疗3例新生儿肝炎和巨细胞病毒的有效性。所有3例2-4月龄新生儿肝炎和可变巨细胞病毒载量的婴儿均口服缬更昔洛韦(125250 mg/m2/天)治疗6周,治疗结束时临床改善,病毒载量未检测到。然而,一名患者出现了CMV的长期后遗症,表现为感音神经性耳聋和发育迟缓。因此,缬更昔洛韦对新生儿巨细胞病毒肝炎安全有效。然而,需要在更大的群体中进行随机对照试验来确定其疗效。巨细胞病毒(CMV)是人类先天性感染的最常见原因。1,2新生儿巨细胞病毒感染可导致严重黄疸和肉芽肿性肝炎。3,4文献报道了分离的新生儿巨细胞病毒肝炎,但对抗病毒药物的反应令人鼓舞。5,6,7,8,9,10我们报道了3例新生儿肝炎和相关巨细胞病毒的婴儿以及他们对缬更昔洛韦的反应。病例1:一个21 / 2个月大的男孩,出生后出现黄疸和泥色大便。由于早产,婴儿在34周时通过剖腹产出生,出生体重为1.75公斤,在新生儿重症监护病房(NICU)住了7天。经检查,体重2.75 kg,身长47 cm,头围35 cm。他有肝脾肿大和脐疝。其他系统正常。调查结果如表1所示。肝活检显示肝细胞球囊变性,伴多核巨细胞,无包涵体。考虑到CMV感染,患儿开始口服缬更昔洛韦(250 mg/m2/剂量BD 21天,然后口服125 mg/m2/剂量BD 21天),6周后肝功能有所改善(胆红素= 1.2 mg/dl, SGPT = 62 IU/L,总蛋白= 6.1 gm/dl,白蛋白= 3.8 gm/dl), CMV病毒载量未检出。在8个月大时,儿童无症状。病例2:一名3个月大的女婴因黄疸就诊。没有粘土色的凳子。她在怀孕9个月时出生,出生体重2.75公斤,并达到了与年龄相符的里程碑。经检查,体重4公斤,身长60公分。黄疸伴肝脾肿大伴脐疝。其他系统正常。调查结果如表1所示。肝活检显示结构扭曲,伴有中度炎症和细胞内肝硬化。患儿给予缬更昔洛韦治疗6周。6周后,患儿无黄疸。病例3:一个31 / 2个月大的男婴足月出生时出现黄疸和泥色大便自1个月大。患者在出生第2天出现惊厥,需要在新生儿重症监护病房住院7天,并口服苯巴比妥。母亲在怀孕7个月时发烧。1月龄时对患儿进行调查,发现有直接高胆红素血症[(胆红素= 7.3 gm/dl,直接胆红素= 2.3 gm/dl)], CMV IgM阳性。由于黄疸没有消退,儿童被转介作进一步治疗。31 / 2月龄,体重5公斤,体长63.5 cm,脾肝肿大,黄疸。调查结果如表1所示。他的视力受损,眼底检查正常,但视觉诱发电位提示视网膜损伤。脑MRI显示皮质成熟延迟。脑电图正常。鉴于持续的新生儿肝炎,儿童的通信地址:Ramya Uppuluri医生,儿科血液学,肿瘤和BMT,阿波罗专科医院,320,帕德玛综合大楼,Anna Salai,金奈,600035印度。电子邮件:ramya.december@gmail.com©2021 Pediatric Oncall文章历史收到2020年1月9日接受2021年7月29日
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引用次数: 0
Neonatal hemochromatosis - A fulminant cause of neonatal cholestasis 新生儿血色素沉着症——新生儿胆汁淤积的暴发性病因
Pub Date : 2021-09-07 DOI: 10.7199/ped.oncall.2022.34
D. Tolani, J. Ahmed, K. Mullanfiroze, I. Shah
Neonatal hemochromatosis (NH) due to Gestational alloimmune liver disease (GALD) is a rare form of fulminant liver disease of unknown cause characterized by diffuse deposition of iron in the liver and extra hepatic sites without any evidence of increased iron intake. Neonatal cholestasis is characterized by persistent elevation of conjugated bilirubin. It can be caused by infections, biliary atresia, by toxins or by metabolic disorders of the liver. GALD is rarely reported as a cause of fulminant neonatal cholestasis. We present three cases of infants who presented with neonatal cholestasis and were found to have NH as well. Case Report Neonatal hemochromatosis (NH) is a rare and severe disorder characterized by excessive iron deposition in liver and extra hepatic sites. It is characterized by neonatal liver failure with an in utero onset.1 Gestational alloimmune liver disease (GALD) is a leading cause of NH. The pregnancy may be complicated either by oligohyraminous or growth retardation and sometimes may cause stillbirth.2 Neonatal cholestasis is defined as the prolonged elevation of serum levels of conjugated bilirubin beyond the first 14 days of life. The overall incidence of neonatal cholestasis is estimated to be 1 in every 2500 live births.3 The most common causes of neonatal cholestasis include biliary tract anomalies of which biliary atresia is the commonest, metabolic disorders of the liver, infections or it may be idiopathic.4 A study has shown metabolic disorders of the liver to contribute to 8.6% of the total cases of neonatal cholestasis.5 Amongst the metabolic disorders causing neonatal cholestasis, alpha-1antitrypsin deficiency is the commonest; others include tyrosinemia, galactosemia, and hypothyroidism, inborn errors of bile acid metabolism, Alagille syndrome. Though NH can cause neonatal cholestasis, however it is not listed as a common metabolic cause of neonatal cholestasis.6 We report three cases of infants who fit the diagnostic criteria for NH and were found to have fulminant neonatal cholestasis without evidence of any other etiology of cholestasis. Case 1: A 1 month old boy born of non consanguineous marriage presented with jaundice and high coloured urine since birth, progressive abdominal distension for 15 days and blood in stools since yesterday. There is no clay coloured stools. Mother had no fever or rash during pregnancy. On examination, there is jaundice with anasarca and splenomegaly. Child was altered with left sided hemiparesis. Investigations are depicted in Table 1. Ultrasound abdomen (USG) showed splenomegaly. Urine aminoacidogram showed increased cysteine. Serum alpha fetoprotein was normal. TORCH titres were negative. Triglycerides were normal and Fibrinogen was< 45 ng/ml. He was treated with fresh frozen plasma, lactulose, metronidazole and intravenous fluids. Child subsequently died next day before any further tests could be done. Case 2: A 2 day old newborn was referred to for evaluation of conjugated
妊娠同种免疫性肝病(GALD)引起的新生儿血色素沉着症(NH)是一种罕见的病因不明的暴发性肝病,其特征是肝脏和肝外部位弥漫性铁沉积,没有任何铁摄入量增加的证据。新生儿胆汁淤积症的特征是共轭胆红素持续升高。它可以由感染、胆道闭锁、毒素或肝脏代谢紊乱引起。GALD很少被报道为暴发性新生儿胆汁淤积症的原因。我们提出三个病例的婴儿谁提出了新生儿胆汁淤积症,并发现有NH以及。新生儿血色素沉着症(NH)是一种罕见而严重的疾病,其特征是肝脏和肝外部位铁沉积过多。它的特点是新生儿肝功能衰竭并在子宫内发病妊娠期同种免疫性肝病(GALD)是NH的主要病因。妊娠可并发羊水过少或发育迟缓,有时可导致死产新生儿胆汁淤积被定义为超过生命最初14天的共轭胆红素血清水平的延长升高。新生儿胆汁淤积症的总发病率估计为每2500例活产婴儿中有1例新生儿胆汁淤积症最常见的原因包括胆道异常(最常见的是胆道闭锁)、肝脏代谢紊乱、感染或可能是特发性的一项研究表明,肝脏代谢紊乱占新生儿胆汁淤积症总病例的8.6%在导致新生儿胆汁淤积的代谢紊乱中,α -1抗胰蛋白酶缺乏症是最常见的;其他包括酪氨酸血症、半乳糖血症、甲状腺功能减退、先天性胆酸代谢错误、阿拉吉尔综合征。虽然NH可引起新生儿胆汁淤积,但它并未被列为新生儿胆汁淤积的常见代谢性原因我们报告三例婴儿谁符合诊断标准的NH和发现有暴发性新生儿胆汁淤积症没有任何其他病因的证据胆汁淤积症。病例1:非近亲婚姻出生的1个月大男婴,自出生以来出现黄疸和高色尿,进行性腹胀15天,从昨天开始便血。没有粘土色的凳子。母亲在怀孕期间没有发烧或皮疹。检查可见黄疸伴无痕及脾肿大。患儿为左侧偏瘫。调查结果如表1所示。腹部超声(USG)示脾肿大。尿氨基酸图显示半胱氨酸升高。血清甲胎蛋白正常。TORCH滴度为阴性。甘油三酯正常,纤维蛋白原< 45 ng/ml。他接受了新鲜冷冻血浆、乳果糖、甲硝唑和静脉输液治疗。第二天,在做进一步的检查之前,孩子就死了。病例2:一个2天大的新生儿被提到评估结合高胆红素血症。他是一个正常的非近亲婚姻足月分娩的孩子。他重3.5公斤,出生后就哭了。经检查,他重度黄疸伴肝脾肿大。调查结果如表1所示。入院期间,血清胆红素在31.5 ~ 54.40 mg/ dl之间波动。TORCH血清学阴性。血、尿培养均为阴性。血清甘油三酯(150 mg/dl)和纤维蛋白原(262 mg/dl)正常。血清总铁高(238 mg/dl,正常76 ~ 198 g/dl),总铁结合能力(TIBC) 289g/dl(正常262 ~ 474 g/dl),转铁蛋白饱和度降低(24.7%,正常25 ~ 35%)。腹部MRI显示肝脏和脾脏有铁沉积,但胰腺未见铁沉积。他开始服用N -乙酰半胱氨酸、维生素E、前列腺素E、去铁胺、新鲜冷冻血浆,但他仍然黄疸,入院第4天开始出现水肿和腹水炎,同时血清铁蛋白升高。他出现呼吸窘迫,不得不进行通气,随后在住院第5天因肺出血死亡。由于负担不起,静脉注射免疫球蛋白(IVIG)无法给予。死后,父母拒绝做肝活检或颊活检。病例3:一名2个半月大的男婴,出生顺序第一,非异体婚姻出生。通讯地址:Dr Drishti Tolani,儿科心脏病科,密歇根儿童医院,底特律,密歇根州,美国。电子邮件:drishtolani@hotmail.com©2021 Pediatric Oncall文章历史收到2021年8月15日接受2021年9月7日
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引用次数: 0
Clinical profile of Tuberculous Pleural Effusion in Children 儿童结核性胸腔积液的临床分析
Pub Date : 2021-08-27 DOI: 10.7199/ped.oncall.2022.13
Ankita Shah, Sunayna Gurnani
Aim: To determine the age distribution, clinical and laboratory findings, and outcomes of patients with tuberculous pleural effusion (TPE). Methods: This retrospective study was done over a period of 5 years in children between 1 month -15 years of age who were referred to our tertiary referral center with TPE. Results: Seventy-six (5.3%) children were diagnosed with pleural effusion of which 43 (56.6%) patients had right-sided affection, 31 (40.8%) had left sided affection and 2 (2.6%) bilateral involvement. Mean age of presentation was 6.8±3.2 years. Mean ADA values in pleural fluid were 107.6±115.7 IU/L. High ESR was found in 58 (77.8%) with mean values of 79.1±28.5 mm at end of 1 hour. Left sided effusion was seen at a mean age of 7.9±3.5 whereas right sided effusion was seen at a mean age of 6.1± 2.8 (p=0.016). Conclusion: Most of the pleural effusions are seen in children < 10 years of age and does not have a predilection for adolescents as mentioned in literature. Elevated ADA and ESR may suggest TPE. Though right sided effusion is more common, left sided effusion is seen in older children. Introduction Tuberculosis (TB) is most common cause of infections related death globally. It is estimated that childhood TB constitutes 10–20% of all TB in high-burden countries.1 Tuberculous pleurisy is the second most common form of extrapulmonary tuberculosis (TB)2 and a common cause of pleural effusion in endemic TB areas. There is limited data regarding the prevalence of tuberculous pleural effusion (TPE) in children but estimated literature has shown that frequency of pleural involvement in pediatric tuberculosis ranges from 238%.3,4,5,6 Effusion is not a common characteristic of primary pulmonary TB in young children and it is more probable to be detected in adolescents and adults.7 The aim of this study was to describe the age distribution of pediatric patients with TPE, with the clinical and laboratory findings and outcome of these patients. Methods & Materials This was a retrospective study done over 5 years in children between 1 month -15 years of age who were referred to our tertiary referral center. Patients identified as TPE were included in the analysis. TPE was diagnosed if the chest radiograph depicted a pleural effusion and at least one of the following criteria: (1) positive culture or positive cartridge based nuclear acid amplification test (CBNAAT) or presence of acid-fast bacilli (AFB) for Mycobacterium tuberculosis (MTB) from pleural fluid, (2) Compatible clinical picture with pleural fluid showing lymphocytic predominance or levels of adenosine deaminase activity (ADA) more than 35 IU/l with/without a positive tuberculin skin test or contact with an adult having TB. Records of all patients were evaluated and clinical history; examination findings and laboratory investigations were noted. Malnutrition was defined as weight or height less than 3 centile as per Agarwal charts.8 Associated ser
目的:探讨结核性胸腔积液(TPE)患者的年龄分布、临床和实验室表现及预后。方法:这项回顾性研究在5年的时间里对1个月至15岁的TPE患儿进行了研究,这些患儿被转介到我们的三级转诊中心。结果:76例(5.3%)患儿被诊断为胸腔积液,其中43例(56.6%)为右侧病变,31例(40.8%)为左侧病变,2例(2.6%)为双侧病变。平均发病年龄为6.8±3.2岁。胸膜液ADA平均值为107.6±115.7 IU/L。高ESR 58例(77.8%),1 h终末平均值为79.1±28.5 mm。左侧积液的平均年龄为7.9±3.5岁,右侧积液的平均年龄为6.1±2.8岁(p=0.016)。结论:胸腔积液多见于< 10岁的儿童,文献中并未提及以青少年为好发。ADA和ESR升高可能提示TPE。虽然右侧积液更常见,但左侧积液见于年龄较大的儿童。结核病(TB)是全球感染相关死亡的最常见原因。据估计,在高负担国家,儿童结核病占所有结核病的10-20%结核性胸膜炎是肺外结核(TB)的第二常见形式2,也是结核病流行地区胸腔积液的常见原因。关于儿童结核性胸腔积液(TPE)患病率的数据有限,但据估计文献显示,儿童结核病胸膜受累的频率为238%。3,4,5,6积液不是幼儿原发性肺结核的常见特征,在青少年和成人中更容易被发现本研究的目的是描述儿童TPE患者的年龄分布、临床和实验室结果以及这些患者的预后。方法与材料这是一项为期5年的回顾性研究,涉及到我们三级转诊中心的1个月至15岁的儿童。确诊为TPE的患者被纳入分析。如果胸片显示胸腔积液并至少符合下列标准之一,则诊断为TPE:(1)培养阳性或墨盒型核酸扩增试验(CBNAAT)阳性或胸膜液中结核分枝杆菌(MTB)抗酸杆菌(AFB)阳性;(2)胸膜液符合临床表现,显示淋巴细胞优势或腺苷脱氨酶活性(ADA)水平超过35 IU/l,伴有/未伴有结核菌素皮肤试验阳性或与成人结核患者接触。评估所有患者的记录和临床病史;记录了检查结果和实验室调查结果。根据阿加瓦尔图,营养不良的定义是体重或身高低于3百分位伴有心包积液或腹水形式的浆液炎。根据世界卫生组织(WHO)标准诊断为耐药结核病世界卫生组织将肺结核定义为累及肺实质的结核性疾病结核接触者被定义为在当前治疗发作开始前3个月内与指示病例共用一个或多个夜晚或在白天频繁或长时间共用同一封闭生活空间的人高ESR定义为1小时结束时>20 mm。对患者进行定期随访,并对其治疗结果进行记录,同时对需要肋间引流管(ICD)的患者和需要类固醇治疗的患者进行具体说明。对出现任何形式的治疗耐药性或发展为肝炎的患者也进行了监测。确定所有结核病患者TPE的患病率,并分析TPE患者的临床资料。分析了左右侧胸腔积液及各项临床化验指标的差异。比例分析使用卡方检验和Fisher精确检验。P值<0.05为通信地址:Ankita Shah博士,501,玫瑰别墅,filmalaya工作室旁边,ceaser路,amboli, andheri west,孟买400058。电子邮件:drankitashah@hotmail.com©2021 Pediatric Oncall文章历史接收2021年8月27日接受2021年8月27日
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