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??Enteroscopy has high diagnostic and therapeutic value in adult intestinal diseases and is a safe and effective method. However??enteroscopy is rarely used in children. Enteroscopy is used for the diagnosis and treatment of obscure gastrointestinal bleeding??intestinal polyps??Crohn’s disease??intestinal stenosis and biliary stricture in children. The paper summarizes the clinical application of enteroscopy in small bowel disorders in pediatric patients.     

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??Objective??To investigate diagnosis of children’s neuronal ceroid lipofuscinosis??NCL????especially the significance of gene diagnosis. Methods??The clinical data of 5 cases of suspected NCL in our hospital from January 2013 to January 2017 were retrospectively analyzed. There were 3 boys and 2 girls??2 of whom were sister and brother. The age of onset ranged from 3 years and 4 months to 8 years and 1 month?? averaged 5 years and 9 months. The first visit to our hospital ranged from 3 years and 6 months to 14 years?? with an average of 8 years and 1 month. DNA of peripheral blood was extracted from 4 children with abnormal imaging and their parents and brothers??and the related genes were detected. Results??Four cases of children were diagnosed with NCL??and 1 case was diagnosed with hysteria??gene detection showed??case 1?? TPP1 gene c.887-17A??G was a shearing variant??and c.646G??A was a missense mutation??case 2?? TPP1 gene c.1015_1016 del was frameshift mutation??and c.640C??T was nonsense mutation??the nucleotide of case 3?? CLN6 gene changed to c.158T??C??p.L53P?? and c.889C??T??p.P297S??. The parents of the 3 cases only carried one of the heterozygous variants??and the brother of case 3 had no mutation. Heterozygous mutation existed in case 4?? CLN3 gene??c.1160_1169 delCAGCCTACGTinsGC??which was not detected in the mother??and there was the deletion of the paternal sample??there was loss of heterozygosity in the exon E3-E8 of the CLN3 gene??which was the true missing from mother. Five cases were followed up for 15-60 months and there was no death. Conclusion??Suspected NCL patients should be checked head MRI??electroencephalogram and gene. The gene mutation leads to NCL??such as TPP1??c.887-17A??G??c.1015_1016 del????CLN3??c.1160_1169 delCAGCCTACGTinsGC????CLN6???c.158T??C??p.L53P?? and c.889C??T??p.P297S?????are reported for the first time. Genotype is very important for NCL classification and prognosis.     

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目的提高对小儿肺炎支原体(MP)肺炎的临床认识和诊治水平。方法对2005-09—2006-05间106例确诊为MP肺炎住院患儿的临床特点进行总结和分析。结果发病年龄多为学龄儿童,613岁占49.1%。持续发热伴刺激性咳嗽的患儿占93.4%,早期无明显阳性体征。MP痰培养阳性率低,仅为6.6%。但用颗粒凝集法检测血清MP-IgM阳性率高(92.5%)。外周血白细胞大多正常(占71%),但血沉(85.0%)及CRP(52.0%)都升高。胸片以一侧大片絮状阴影为多见,占88.7%,右侧(57.6%)多于左侧,下叶(72.3%)多于中上叶。35例(33.0%)有肺外合并症,伴有渗出性胸膜炎者占39.4%,此外尚有贫血、肝损害等。所有病例用红霉素、阿奇霉素治疗效果良好,尚未发现耐药情况。结论小儿MP肺炎好发于学龄儿童,颗粒凝集法检测血清Mp-IgM阳性率高,利于早期诊断。     

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??Abstracts?? Neonatal alloimmune thrombocytopenia??NAIT??is a leading cause of neonatalthrombocytopenia andone of the main reasons for thedisease and full-term infantswith intracranial hemorrhage.This paperisfocusedon the NAIT pathogenesis??clinical features??auxiliary examination??diagnosis and intervention and treatment.     

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目的提高对卡-梅综合征(Kasabach-Merritt syndrome,KMS)的临床表现和治疗的认识。方法 2006年1月至2010年6月上海交通大学医学院附属新华医院收治KMS患儿10例,结合临床资料和文献,详细分析该病的病因、临床表现、诊断、治疗及预后。结果 KMS病因不明,病理生理基础是血小板减少和弥漫性血管内凝血(DIC),与巨大血管肿瘤密切相关;肿块的临床表现多样化;病理表现主要为Kaposiform血管内皮瘤和蔓状血管瘤;治疗方案包括纠正DIC和血小板减少,根据具体情况选择外科治疗(手术切除、栓塞等)或内科药物治疗(糖皮质激素、α-干扰素、免疫抑制剂等)去除血管肿瘤。结论婴儿血管瘤尤其是巨大血管瘤伴血小板减少时应警惕KMS的发生,一旦诊断明确,在对症治疗的基础上,根据不同血管瘤的大小、部位,采取不同的去除血管肿瘤治疗方法。     

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??Objective??To investigate the change of the platelet state and function in acute lymphocytic leukemia. Methods??The changes of platelet indices??PLT??PCT??MPV??PDW????immature platelet fraction??IPF%????immature platelet counts??IPC????granule membrane glycoprotein of platelet ??CD62p?? and PAC-1 were obtained by using automatic blood cell analyzer and whole blood flow cytometry??FCM?? respectively??in children with acute lymphocytic
leukemia??ALL????ALL in first complete remission ??ALL-CR1?? and children undergoing elective surgical procedure??control group??. Results????1??Without addition of platelet agonists ADP??expression of platelet surface activated CD62p and PAC-1 in ALL was higher than that in control group??P??0.05????while expression of platelet surface activated PAC-1 in ALL-CR1 was higher than that in control group??P??0.05????and lower than that in ALL??P??0.05??????2??With addition of platelet agonists ADP??expression of platelet surface activated CD62p and PAC-1 in ALL was lower than that in control group??P??0.05????while expression of platelet surface activated PAC-1 in ALL-CR1 was lower than that in control group??P??0.05????and higher than that in ALL??P??0.05??????3?? PLT??PCT and MPV in ALL was lower than that in control group and ALL-CR1 ??P??0.05??????4?? IPF% in ALL was higher than that in control group and ALL-CR1??P??0.05????and IPC was lower than that in control group and ALL-CR1??P??0.05??. Conclusion??The children who are newly diagnosed with acute lymphocytic leukemia have peripheral platelet reactivity and platelet function defects. Platelet indices and platelet membrane glycoprotein can be used as effective indicators to judge the effect on ALL.     

儿童遗传性肾小管碱中毒诊疗进展

儿童遗传性肾小管碱中毒为临床罕见的肾小管疾病,是肾小管上皮细胞离子通道基因变异导致蛋白质功能异常引起的临床综合征。Bartter综合征、Gitelman综合征和Liddle综合征属于其中较常见的几种类型,均是以肾小管碱中毒为临床特征的遗传性失钾性疾病。文章综述上述三者的发病机制、临床表现及诊断和治疗的最新进展。     

Chronic hypomagnesemia and hypokalemia due to renal wasting in siblings

A 13 year old girl with carpopedal spasm is presented. Investigation values showed hypomagnesemia and hypokalemia. Her younger brother and sister demonstrated the same biochemical abnormalities without any symptoms. Their urinary excretion of magnesium and potassium were inappropriately high compared with their serum levels. Treatment with oral magnesium sulfate failed to correct the abnormalities, but serum levels of magnesium and potassium were just below the lower limits. This familial disease may represent congenital renal wasting of magnesium and potassium.     

Chronic active hepatitis with renal tubular acidosis presenting as hypokalemic periodic paralysis with respiratory failure

A child with chronic active hepatitis and renal tubular acidosis, presenting with periodic hypokalemic paralysis resulting in respiratory failure, is described.     

90例肾小管性酸中毒临床分析

为提高对肾小管性酸中毒(RTA)的临床认识，减少误诊和漏诊，回顾性分析了90例RTA的病因、临床症状、体征和实验室检查。结果发现原发性RTA占65．6％，继发性RTA占34．4％，临床初次误诊高达54．4％。RTA临床表现无特异性，生长发育落后最常见，占72．2％，其中6例合并生长激素缺乏(GHD)，其他表现有纳差、呕吐、下肢疼痛、骨骼畸形等。临床分型中I型最常见，占82％，Ⅱ、Ⅲ型各占6．7％，Ⅳ型为4．6％。检测尿酸化功能66例，其中I型达印例，52例明显下降，8例轻度下降者经NH4Cl负荷试验确诊。提示RTA在儿童期并非罕见，临床误诊率高，需提高警惕；多种疾病可继发RTA，临床上应全面判断；尿酸化功能测定是RTA诊断的可靠指标。     

Early diagnosis of renal tubular diseases

??Hereditary renal tubular disease is insidious and the incidence is relatively low. Renal tubular disease is easy to be overlooked or misdiagnosed due to lack of specific clinical manifestation. The most common clinical manifestations of hereditary renal tubular are hypokalemia??hypercalciuria??polyuria??rickets??and growth retardation. If it is not timely treated??once the renal involvement happened??renal function impairment is generally inconvertible. Therefore??we should pay more attention to the early diagnosis of renal tubular diseases. In order to make early diagnosis??emphasis should be attached to the detailed history??the laboratory examination of renal tubular function series??and the diagnosis clues to hypercalciuria-related renal tubular diseases. It’s necessary for clinical physicians to pay attention to the early diagnosis of tubular diseases in order to perform early intervention and improve prognosis.     

Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1

We report an association of proximal renal tubular dysfunction in a 50-day-old girl with glucose-galactose malabsorption who was found to have nephrocalcinosis, but no sign of nephrolithiasis. A novel homozygous nonsense mutation at 267Arg →stop (CGA→TGA) in the Na⁺-dependent glucose transporter (SGLT1) was found in loop 5 connecting transmembrane segments 6 and 7, indicating the complete loss of glucose transport activity. This case indicates that hypercalcaemia, nephrocalcinosis and proximal tubular dysfunction may be seen in association with glucose-galactose malabsorption and that most of these abnormalities improve with a glucose-galactose-free diet.