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Role of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical Experience 基因检测和复杂内镜检查在小儿和青少年遗传性息肉鉴别诊断中的作用:10年临床经验
Pub Date : 2023-08-25 DOI: 10.15690/vsp.v22i4.2614
T. Belysheva, T. Nasedkina, T. T. Valiev, E. Sharapova, V. V. Semenova, V. Kozlova, S. Mikhaylova, I. Kletskaya, Alexey V. Butuzov, Y. Vishnevskaja, Valeria V. Lozovaya, O. Gusarova, Armen O. Tumanyan, Olga A. Malichova, S. Varfolomeeva
Background. Hereditary polyposis syndromes (HPS) are a group of rare genetic diseases characterized by multiple epithelial lesions in the gastrointestinal tract (GIT) with high risk of malignancy and neoplasia development in other localizations. The case follow-up tactics in hereditary polyposes have significant differences, and differential diagnosis can be complicated due to the phenotype variability and the clinical manifestations similarity. Objective. The aim of the study is to determine the role of molecular genetic testing and endoscopic examination in the diagnosis and management of children with HPS. Materials and methods. The retrospective observational study included 17 patients with clinical signs of hereditary polyposes who applied to the L.A. Durnov Research Institute of Pediatric Oncology and Hematology during the period from 2013 to 2023. All patients underwent molecular genetic testing and comprehensive endoscopic examination of upper and lower GIT. Results. We have divided patients into 7 groups according to the results of genetic testing. Patients had various mutations in genes associated with hereditary tumor syndromes: STK11 (35.3%; n = 6), APC (17.6%; n = 3), PTEN (11.8%; n = 2), SMAD4 (5.9%; n = 1), BMPR1A (5.9%; n = 1), MUTYH (5.9%; n = 1), MLH1 (5.9%; n = 1). One female patient with colorectal cancer with history of adenomatous polyp had pathogenic variants in the ATM and CHEK2 genes; it could be considered as multi-locus tumor syndrome (MINAS) (5.9%, n = 1). Another female patient (5.9%) had multiple gastric body hamartoma polyps and multiple gastric gastrointestinal stromal tumors (GIST) but with no pathogenic mutations. Complex endoscopic examination was performed in 14 (82.3%) patients. Epithelial or non-epithelial lesions of the stomach and intestine were revealed in all cases. Malignant tumors of duodenum and colon were diagnosed in 3 out of 14 patients (21.4%). Morphological variants of these GIT lesions were represented by hamartoma, hyperplastic, and juvenile polyps, adenomas, serrated adenomas, adenocarcinoma, and GIST. The diagnosed epithelial lesions of the stomach, duodenum, and colon were removed via endoscopic polypectomy and endoscopic mucosal resection in 8 out of 14 patients (57.1%). Some cases required small bowel resection (14.3%, n = 2), total colectomy (14.3%, n = 2), and gastrectomy (14.3%, n = 2). Conclusion. Understanding the molecular and biological etiology of HPS, its endoscopic diagnosis, and treatment features allows us to optimize the management of such patients and to minimize the risks of developing malignant tumors in upper and lower GIT, as well as extraintestinal tumors by carrying out timely medical and preventive measures.
背景。遗传性息肉病综合征(HPS)是一组罕见的遗传性疾病,其特征是胃肠道(GIT)多发上皮病变,在其他部位发生恶性和瘤变的风险很高。遗传性息肉的病例随访策略存在显著差异,且由于表型差异和临床表现相似,其鉴别诊断较为复杂。目标。本研究的目的是确定分子基因检测和内窥镜检查在儿童HPS的诊断和治疗中的作用。材料和方法。这项回顾性观察性研究纳入了2013年至2023年期间在L.A. Durnov儿科肿瘤和血液学研究所申请的17例具有遗传性息肉临床症状的患者。所有患者均行分子基因检测及上下GIT综合内镜检查。结果。根据基因检测结果,我们将患者分为7组。患者有各种与遗传性肿瘤综合征相关的基因突变:STK11 (35.3%);n = 6), APC (17.6%;n = 3), PTEN (11.8%;n = 2), SMAD4 (5.9%;n = 1), BMPR1A (5.9%;n = 1), MUTYH (5.9%;n = 1), MLH1 (5.9%;n = 1)。1例有腺瘤性息肉病史的女性结直肠癌患者存在ATM和CHEK2基因致病性变异;可考虑为多位点肿瘤综合征(MINAS) (5.9%, n = 1)。另1例女性患者(5.9%)有多发胃体错构瘤息肉和多发胃胃肠道间质瘤(GIST),但无致病突变。14例(82.3%)患者行复杂内镜检查。所有病例均可见胃和肠上皮性或非上皮性病变。14例患者中有3例(21.4%)诊断为十二指肠和结肠恶性肿瘤。这些GIT病变的形态学变异表现为错构瘤、增生性息肉、幼年息肉、腺瘤、锯齿状腺瘤、腺癌和GIST。14例患者中有8例(57.1%)通过内镜息肉切除术和内镜粘膜切除术切除了确诊的胃、十二指肠和结肠上皮病变。部分病例行小肠切除术(14.3%,n = 2)、全结肠切除术(14.3%,n = 2)、胃切除术(14.3%,n = 2)。了解HPS的分子生物学病因、内镜诊断和治疗特点,可以优化患者的管理,及时采取医疗和预防措施,最大限度地降低胃肠道上、下段恶性肿瘤和肠外肿瘤的发生风险。
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引用次数: 0
Viral Encephalitis (Human Herpes Virus Type 6) after COVID-19 in a Child: Clinical Case 1例儿童COVID-19后病毒性脑炎(6型人疱疹病毒)临床病例
Pub Date : 2023-07-08 DOI: 10.15690/vsp.v22i3.2588
R. Zhetishev, D. R. Arkhestova, Oksana A. Pacheva, Lidiya R. Dinaeva, E. Kamyshova, Zh.Yu. Pazova
Background. Immune system disorders early after COVID-19 are associated with high risk of other infections development, including viral ones. Their diagnosis is complicated especially in the absence of clinical symptoms of primary infection and alongside with serious disease course. There are no reports on encephalitis development due to reactivation of latent viral infection.Clinical case description. Girl, 4 years-old, had psycho-neurological symptoms followed by tonic seizures on the next day. The child was hospitalized on the 3rd day after disease onset with preliminary diagnosis of viral encephalitis. The child has contacted with patients with laboratory-confirmed new coronavirus infection 3-4 weeks before the disease onset, later she had signs of mild respiratory infection (no examination of SARS-CoV-2 was carried out). Autoimmune nature of central nervous system injury was suspected after excluding a wide range of infections (negative PCR results for SARS-CoV-2, cytomegalovirus, herpes simplex virus, Epstein-Barr virus, toxoplasma, enterovirus), however it was not confirmed later on. Human herpes virus type 6 was revealed via blood tests and oropharyngeal swаb on the 15th day of disease. High concentration of IgG antibodies to SARS-CoV-2 was found was revealed as well. Treatment (antibacterial, anticonvulsant, anticoagulant, antiviral, immunosupportive, and sedative therapy, glucocorticosteroids) did not achieve significant improvement. Brain MRI (on the 23rd day of the disease) has shown leukoencephalopathy zones in subcortical white matter of convexital surfaces of parietal and occipital lobes, subatrophic changes in white matter of cerebral hemispheres with moderate vicarious enlargement of the subarachnoid spaces. Disease progression led to patient’s death on the 32nd day after first signs appearance.Conclusion. The development of severe viral encephalitis (as a result of primary herpes virus infection or its reactivation) in the early period after mild COVID-19 is shown. Its cause-effect relations require further examination.
背景。COVID-19后早期的免疫系统紊乱与其他感染的高风险相关,包括病毒性感染。其诊断是复杂的,特别是在没有原发性感染的临床症状和伴随严重病程的情况下。目前尚无因潜伏病毒感染再激活而发展为脑炎的报道。临床病例描述。女孩,4岁,有精神神经症状,第二天出现强直性癫痫发作。患儿发病后第3天入院,初步诊断为病毒性脑炎。该儿童在发病前3-4周曾与实验室确诊的新型冠状病毒感染患者接触,后来出现轻度呼吸道感染迹象(未进行SARS-CoV-2检查)。在排除了广泛的感染(SARS-CoV-2、巨细胞病毒、单纯疱疹病毒、eb病毒、弓形虫、肠病毒的PCR阴性结果)后,怀疑中枢神经系统损伤的自身免疫性质,但后来没有得到证实。人类疱疹病毒6型是通过血液测试和口咽swаb疾病的第15天。同时还发现了高浓度的SARS-CoV-2 IgG抗体。治疗(抗菌、抗惊厥、抗凝、抗病毒、免疫支持、镇静治疗、糖皮质激素)未取得显著改善。脑MRI(发病第23天)显示顶叶和枕叶凸面皮质下白质区脑白质病变,大脑半球白质亚萎缩改变,蛛网膜下腔中度代谢性增大。疾病进展导致患者在首次出现症状后第32天死亡。在轻度COVID-19感染后的早期,出现严重病毒性脑炎(由于原发性疱疹病毒感染或其再激活)。其因果关系有待进一步研究。
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引用次数: 0
Skill levels of pediatrician, organizer, teacher (to the 75th anniversary of prof. A.S. Simakhodsky) 儿科医生、组织者、教师的技能水平(致A.S. Simakhodsky教授诞辰75周年)
Pub Date : 2023-07-08 DOI: 10.15690/vsp.v22i3.2569
N. P. Shabalov, I. Leonova
.
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引用次数: 0
Dmitry Egorovich Gorokhov (1863–1921): Founder of Pediatric Surgery and Promoter of Child Welfare in Moscow Dmitry Egorovich Gorokhov(1863-1921):莫斯科儿科外科创始人和儿童福利促进者
Pub Date : 2023-07-08 DOI: 10.15690/vsp.v22i3.2570
V. N. Shelkova
The article dwells upon Dmitry Egorovich Gorokhov, prominent representative of the Moscow pediatric school. D.E. Gorokhov, as the chief physician and director of the Sofia Children’s Hospital in Moscow, is well-recognized as the author of the first Russian pediatric surgery guidelines and he is rightfully considered the founder of this discipline. Management tactics for such socially significant diseases in children as appendicitis, tuberculosis of bones and joints, tumors, and various congenital abnormalities were developed under his supervision. D.E. Gorokhov was the first who summarized the experience of using anesthesia in pediatric surgery. He became the initiator and organizer of nutrition in Moscow municipal schools. The scientific, practical, educational, and social activities of the doctor and scientist who notably contributed to the child welfare are shown.
本文详细介绍了莫斯科儿科学派的杰出代表人物Dmitry Egorovich Gorokhov。作为莫斯科索非亚儿童医院(Sofia Children’s Hospital)的主任医师和主任,德·e·戈罗霍夫(D.E. Gorokhov)被公认为是俄罗斯第一部儿科外科指南的作者,他理所当然地被认为是这一学科的创始人。在他的指导下,发展了诸如阑尾炎、骨关节结核、肿瘤和各种先天性异常等具有社会意义的儿童疾病的管理策略。D.E. Gorokhov是第一个总结在儿科手术中使用麻醉经验的人。他成为莫斯科市立学校营养活动的发起者和组织者。展示了为儿童福利做出突出贡献的医生和科学家的科学、实践、教育和社会活动。
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引用次数: 0
Severe Hypocalcemia in the Adolescent as the Only Manifestation of 22q11 Microdeletion Syndrome: Clinical Case 22q11微缺失综合征的唯一表现是青少年严重低钙血症:临床病例
Pub Date : 2023-07-08 DOI: 10.15690/vsp.v22i3.2571
Anastasia O. Vechkasova, N. Buchinskaya, M. Kostik
Background. In this article, we would like to describe the atypical clinical picture and course of 22q11 microdeletion syndrome in a patient without specific phenotypic signs and symptoms typical for this disease.Clinical case description. Male patient, 13 years old, was hospitalized for the first time with seizure and multiple spinal fractures caused by hypocalcemia. He was referred to rheumatologist and clinical geneticist after hospital stay. Differential diagnosis included not only various bones metabolic diseases, but also 22q11 deletion syndrome. Later it was confirmed via FISH test.Conclusion. This clinical case proves once again the uniqueness of every single case, as well as the importance of comprehensive approach to the diagnosis and management of such patients.
背景。在这篇文章中,我们想描述22q11微缺失综合征患者的非典型临床表现和病程,没有这种疾病的典型表型体征和症状。临床病例描述。患者男,13岁,因低钙所致癫痫发作及多处脊柱骨折首次住院。住院后转到风湿病学家和临床遗传学家。鉴别诊断不仅包括各种骨代谢性疾病,还包括22q11缺失综合征。后来通过FISH测试证实。该临床病例再次证明了每个病例的独特性,以及综合方法对此类患者的诊断和治疗的重要性。
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引用次数: 0
Familial Hypercholesterolemia in Children. The Current State of the Problem 儿童家族性高胆固醇血症。问题的现状
Pub Date : 2023-07-08 DOI: 10.15690/vsp.v22i3.2576
D. Sadykova, K. Salakhova, L. F. Galimova, E. Slastnikova, C. Khaliullina
Cardiovascular diseases are the leading cause of disability and mortality worldwide. Cardiovascular mortality rate is steadily increasing despite the large-scale preventive measures. Familial hypercholesterolemia is the most common genetically determined disorder of lipid metabolism as the major cause of blood circulatory system diseases development and progression. Worldwide, there are 6.8–8.5 million children with this primary dyslipidemia. Early (in childhood) diagnosis of familial hypercholesterolemia is crucial for the timely initiation of lipid-lowering therapy in order to reduce the atherosclerosis progression and the risk of life-threatening cardiovascular events. New screening programs have been implemented, new biomarkers of the disease have been studied, and lipid-lowering drugs with new mechanisms of hypolipidemic action have been developed to increase the efficacy of these activities in economically developed countries.
心血管疾病是全世界致残和死亡的主要原因。尽管采取了大规模的预防措施,但心血管疾病死亡率仍在稳步上升。家族性高胆固醇血症是最常见的遗传性脂质代谢紊乱,是血液循环系统疾病发生和发展的主要原因。在世界范围内,有680 - 850万儿童患有这种原发性血脂异常。家族性高胆固醇血症的早期(儿童)诊断对于及时开始降脂治疗至关重要,以减少动脉粥样硬化的进展和危及生命的心血管事件的风险。在经济发达国家,新的筛查项目已经实施,新的疾病生物标志物已经研究,具有降血脂作用新机制的降脂药物已经开发出来,以提高这些活动的功效。
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引用次数: 0
Prenatal and Postnatal Diagnosis of Intrauterine Ovarian Torsion 子宫内卵巢扭转的产前产后诊断
Pub Date : 2023-07-08 DOI: 10.15690/vsp.v22i3.2578
E. Sibirskaya, I. Karachentsova, Alsu R. Minazhetdinova, M. Chernysheva, Adelina A. Khairullina
Intrauterine ovarian torsion is the most common complication of ovarian cysts in fetuses. This pathology is asymptomatic in the postnatal period, thus, it is difficult to diagnose especially in cases then torsion signs were not revealed before birth. This review presents the criteria used in pre- and postnatal diagnosis of ovarian torsion. The main ultrasound markers were identified, as well as the possibilities of using MRI were considered. Timely diagnosis of this pathology in prenatal period contributes to more careful examination of the child after birth. This will determine the management tactics, preserve girl's reproductive function, and avoid any complications from other organs and systems.
子宫内卵巢扭转是胎儿卵巢囊肿最常见的并发症。这种病理在出生后无症状,因此很难诊断,特别是在出生前没有发现扭转体征的病例。本文综述了产前和产后诊断卵巢扭转的标准。确定了主要超声标记物,并考虑了使用MRI的可能性。产前及时诊断这种病理有助于出生后对孩子进行更仔细的检查。这将决定管理策略,保护女孩的生殖功能,并避免任何其他器官和系统的并发症。
{"title":"Prenatal and Postnatal Diagnosis of Intrauterine Ovarian Torsion","authors":"E. Sibirskaya, I. Karachentsova, Alsu R. Minazhetdinova, M. Chernysheva, Adelina A. Khairullina","doi":"10.15690/vsp.v22i3.2578","DOIUrl":"https://doi.org/10.15690/vsp.v22i3.2578","url":null,"abstract":"Intrauterine ovarian torsion is the most common complication of ovarian cysts in fetuses. This pathology is asymptomatic in the postnatal period, thus, it is difficult to diagnose especially in cases then torsion signs were not revealed before birth. This review presents the criteria used in pre- and postnatal diagnosis of ovarian torsion. The main ultrasound markers were identified, as well as the possibilities of using MRI were considered. Timely diagnosis of this pathology in prenatal period contributes to more careful examination of the child after birth. This will determine the management tactics, preserve girl's reproductive function, and avoid any complications from other organs and systems.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"88 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73252439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Post-COVID Syndrome in Children: One-Time Survey Study of Parents’ Opinion 儿童新冠肺炎后综合征:家长意见一次性调查研究
Pub Date : 2023-07-08 DOI: 10.15690/vsp.v22i3.2582
D. R. Shagieva, M. Kutlubaev, A. R. Rakhmatullin
Background. COVID-19 symptoms often persist for a long time, it indicates the post-COVID syndrome development. Its frequency in children population is generally studied by interviewing the children themselves. This approach limits the risk evaluation of post-COVID syndrome development in young children who are unable to describe the persistent symptoms due to their age.Objective. The aim of the study is to evaluate the prevalence of post-COVID syndrome in children and its effect on their daily activities by interviewing parents.Methods. The survey covered parents of children (aged from 3 months to 18 years) who suffered laboratory-confirmed COVID-19 in 2021–2022 but not earlier than 12 weeks before study initiation. The survey was conducted on-line. The presence of the symptoms (persisted or occurred 12 weeks after COVID-19), its impact on children’s daily life, the need for medical treatment or doctor's advice (due to these post-covid symptoms) and vaccination against novel coronavirus infection were evaluated. Incidence of post-COVID syndrome was analyzed in subgroups based on sex, age (< 3 years, 3–6 and 7–17 years), and disease severity.Results. Invitations to participate in the study were sent to 2292 parents of all children registered at the clinic and suffered from COVID-19 via WhatsApp and Telegram messengers. 1533 (66.9%) of them agreed to take part in the survey, and 1258 (54.8%) filled out the questionnaire in full. The survey has revealed that at least one symptom that persisted or occurred 12 weeks after COVID-19 was noted by parents in 764 out of 1258 (60.6%) children (more often in the older age group and in severe cases). Significant negative impact of symptoms on children’s daily life was noted by 251 out of 764 (32.9%) respondents. Parents of 734 out of 764 (96.1%) children have visited a doctor due to post-COVID syndrome symptoms.Conclusion. Post-COVID syndrome develops in more than 60% of children after laboratory-confirmed COVID-19, according to parents. However, we have reasons to believe that parental estimations could overestimate the prevalence of post-COVID syndrome.
背景。COVID-19症状通常持续很长时间,这表明COVID-19后综合征的发展。其在儿童人群中的发病率通常通过对儿童本人的访谈来研究。该方法限制了因年龄原因无法描述持续症状的幼儿covid - 19后综合征发展的风险评估。本研究旨在通过对家长的访谈,了解新冠肺炎后综合征在儿童中的流行情况及其对儿童日常活动的影响。该调查涵盖了2021-2022年期间(但不早于研究开始前12周)感染实验室确诊COVID-19的儿童(3个月至18岁)的父母。该调查是在线进行的。评估症状的存在(持续存在或在COVID-19后12周发生)、对儿童日常生活的影响、治疗或医生建议的必要性(由于这些COVID-19后症状)以及针对新型冠状病毒感染的疫苗接种。以性别、年龄(< 3岁、3 - 6岁和7-17岁)和疾病严重程度为亚组,分析covid后综合征的发病率。通过WhatsApp和Telegram信使向在诊所注册并患有COVID-19的所有儿童的2292名父母发送了参与研究的邀请。其中1533人(66.9%)同意参加调查,1258人(54.8%)完整填写了问卷。调查显示,在1258名儿童中,有764名(60.6%)的父母注意到至少一种症状在COVID-19后12周持续存在或发生(更常见的是年龄较大的年龄组和严重病例)。764名应答者中有251人(32.9%)注意到症状对儿童日常生活的重大负面影响。764名儿童中,有734名(96.1%)的父母因新冠肺炎后症状去看过医生。据家长称,在实验室确诊COVID-19后,超过60%的儿童会出现COVID-19后综合征。然而,我们有理由相信,父母的估计可能高估了后covid综合征的患病率。
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引用次数: 0
Development of Children’s Palliative Care in Perm Krai 彼尔姆边疆区儿童姑息治疗的发展
Pub Date : 2023-07-08 DOI: 10.15690/vsp.v22i3.2579
R. I. Islamova, N. V. Minaeva, Svetlana P. Baranova, Irina E. Berber, Nataliia V. Dolgomirova
Palliative care as a system is presented in Russia for a little over 10 years. Moreover, such care in every region has its own local-specific scheme and infrastructure. This article presents the results the analysis of palliative care state and availability in Perm Krai, covers its strengths and weaknesses that are crucial for executive decisions-making and for further children’s palliative care development.
姑息治疗作为一个系统在俄罗斯出现了十多年。此外,每个地区的此类护理都有自己的地方特色方案和基础设施。本文介绍了对彼尔姆边疆区姑息治疗状态和可用性的分析结果,涵盖了其优势和劣势,这对行政决策和进一步的儿童姑息治疗发展至关重要。
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引用次数: 0
Infravesical Obstruction in a Boy with Orthotopic Ureterocele: Clinical Case 男孩原位输尿管膨出膀胱下梗阻1例
Pub Date : 2023-05-07 DOI: 10.15690/vsp.v22i2.2564
A. A. Bebenina, O. Mokrushina, M. Levitskaya, V. Shumikhin, Nadezhda N. Erokhina
Background. Ureterocele is a cystic dilatation of the distal ureter. Orthotopic ureterocele is relatively rare form of this disease, and it is commonly diagnosed in female children. The clinical picture of orthotopic ureterocele is usually not significant, and the management variants are unclear. Clinical case description. Ultrasound has revealed dilatation in the distal part of the left ureter (up to 6.5 mm) and cyst formation (diameter of 8 mm, thick walls) in the bladder in 8-months-old boy. The retrograde voiding cystourethrogram has shown no signs of vesicoureteral reflux. The evaluation of the voiding rhythm was performed: the volume of residual urine was > 30%, it indicates the infravesical obstruction. The child underwent diagnostic cystourethroscopy, transurethral resection of the ureterocele, intubation ureteral catheter in the left ureter (all procedures was performed under general anesthesia). There were no enlargements of calices-pelvis system and ureters 12 months after surgery according to urinary system ultrasound. Clinical urine test with no inflammatory changes. Voiding rhythm was without pathology.Conclusion. The widespread implementation of high-tech and minimally invasive methods of diagnosis and management allow us to achieve timely detection and provide effective treatment for children with ureterocele.
背景。输尿管囊肿是输尿管末端的囊性扩张。原位输尿管囊肿是一种相对罕见的疾病,常见于女性儿童。原位输尿管囊肿的临床表现通常不明显,治疗方法也不清楚。临床病例描述。超声显示8个月大男孩左侧输尿管远端扩张(达6.5 mm),膀胱囊肿形成(直径8 mm,壁厚)。逆行排尿膀胱输尿管造影未显示膀胱输尿管反流迹象。评估排尿节律:残余尿量> 30%,提示膀胱下梗阻。患儿行诊断性膀胱输尿管镜检查、经尿道输尿管囊肿切除术、左输尿管置管(所有手术均在全身麻醉下进行)。术后12个月泌尿系统超声检查未见肾盂系统及输尿管肿大。临床尿检无炎症改变。排尿节律无病理变化。高科技和微创诊断和管理方法的广泛实施,使我们能够及时发现并提供有效的治疗儿童输尿管囊肿。
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引用次数: 0
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Current pediatrics
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