�ζ�����������2�����沢���׸�ϰ

??Abstract??Objective To raise awareness of pulmonary artery sling??PAS??and to improve its early diagnosis and reduce misdiagnosis. Methods By analyzing the information of two cases?? evaluate the importance of echocardiography??MRI and enhanced + 3D CT in early diagnosis. Results These two patients had major clinical manifestations of recurring bucking and vomiting??and laryngeal stridor.One case was confirmed by Enhanced + 3D CT??and the another case was confirmed by echocardiography and Enhanced + 3D CT. Conclusions The infants who had clinical manifestations such as repeatedly bucking and vomiting??laryngeal stridor??pneumonia or respiratory tract infection??and who were treated unsatisfactorily should consider PAS.Echocardiography??enhanced + 3D CT and MRI play an important role in the diagnosis of PAS.     

�������������İ���Һ1�����沢���׸�ϰ

??Abstract??ObjectiveTo report a newborn case of congenital idiopathic chylopericardium associated with chylothorax about its clinical features??ancillary diagnostic tests??treatment and prognosis. MethodsA newborn case diagnosed with congenital idiopathic chylopericardium associated with chylothorax was admitted to the Pediatric Intensive Care Unit of Provincial Hospital Affiliated to Shandong University. Its clinical features??treatment and follow-up data were analyzed??and a brief review of the literature was presented. ResultsBulk chylopericardium associated with chylothorax was detected with ultrasonography in fetus during antepartum. The child presented no obvious symptoms after birth. Chest X-ray demonstrated enlargement of the cardiac silhouette ??cardiac/chest ratio was 0.75??. Echocardiography revealed pericardial effusion. Computed tomography of the chest did not reveal any lesion obstructing the thoracic duct. The chylous nature of the fluid was confirmed by demonstration of chylomicrons and high levels of triglycerides at puncture pricardiocentesis. After pericardial drainage by pricardiocentesis for three times failed??a catheter was left in the pericardium for drainage. Two days later the patient was cured. At 1 week and 1 month after operation he was doing well and echocardiography did not reveal any signs of recurrence. Conclusion Primary idiopathic chylopericardium is a rare clinical entity with obscure etiology. In most cases chylopericardium is only confirmed by pericardiocentesis. Pericardiocentesis and pericardial drainage are effective conservative treatment options. Surgery should be considered for the patients with recurring chylopericardium.     

��ͯ�����ϰ���ƶѪ��Ѫ��ϸ����ֲ�󲢷���ɢ�ʹ�״����3�����沢���׸�ϰ

??Objective To discuss the diagnosis, high risk factors, prevention and treatment of disseminated varicella zoster virus??VZV?? infection after allogeneic hematopoietic stem cell transplantation??allo-HSCT?? in children with aplastic anemia??AA??. Methods A retrospective analysis was made about the clinical data of 3 children with disseminated VZV infection after allo-HSCT for AA. Results Three children, aged 10??13 years old??who didn’t present graft-versus host disease??GVHD?? after transplantation, were given single drug as anti-viral prophylaxis of VZV. During the period of prophylaxis, none of them developed VZV reactivation but they showed symptoms of disseminated VZV infection after discontinuation of anti-viral prophylaxis. All of them were treated with intravenous ganciclovir, oral valaciclovir combined with external application of penciclovir and with gamma globulin until the rush crusted, and eventually all of them recovered well. Conclusion Patients with allo-HSCT for aplastic anemia are at high risk of developing disseminated VZV infection and they have high incidence of mortality and poor prognosis. We recommend anti-viral prophylaxis after allo-HSCT for prevention?? and reduced dose of immunosuppressive drugs and combination use of ganciclovir, valaciclovir and gamma globulin when patients present symptoms of VZV infection.     

�����������ܰ�ϸ����ֳ�ۺ���1�����沢���׸�ϰ

目的报道1例自身免疫性淋巴细胞增殖综合征的临床特点、诊断、治疗及随访,提高国内儿科医生对该病的认识。方法 2009年5月中山大学附属第一医院收治1例自身免疫性淋巴细胞增殖综合征患儿,回顾分析该患儿临床资料及诊疗过程,复习国内外相关文献。结果患儿1岁11个月,以全血细胞减少、肝脾淋巴结肿大为主要临床表现,并有肾小球肾炎、炎症性肠病的临床表现,CD3+且CD4、CD8双阴性细胞比例明显升高,伴PaIgG、ANA、ANCA、胰岛素自身抗体等抗体阳性。Fas、FasL及Casp10基因检测未发现基因突变。糖皮质激素联合其他免疫抑制剂治疗短期效果明显,但激素减量时易反复。结论本病例在临床上诊断自身免疫性淋巴增殖综合征可成立。提高对本病的认识可以减少误诊率。     

��ͯϵͳ�Ժ���Ǵ���ش���ϸ�������ϰ���ƶѪ1�����沢���׸�ϰ

目的对文献报道的系统性红斑狼疮(SLE)相关的纯红细胞再生障碍性贫血(PRCA)患者的临床特征和实验室检查进行总结。方法对2003年2月中国协和医科大学血液病医院收治的1例儿童SLE相关PRCA及1966～2002年文献报道的资料完整的SLE相关PRCA患者26例(共27例)进行分析。结果70.4%(19/27)病例SLE和PRCA不能同时诊断。实验室检查无特异性。58.3%(14/24)患者泼尼松治疗有效,但常呈激素依赖性。结论SLE相关PRCA报道较少,临床表现和实验室检查缺少特异性,SLE相关PRCA治疗与PRCA的治疗相似。     

JAK3ͻ����������������ȱ�� 1�����沢���׸�ϰ

目的报道我国首例JAK3突变致严重联合免疫缺陷(SCID)患儿资料并文献复习。方法 2011-04-25重庆医科大学附属儿童医院对1例疑似SCID患儿血标本(患儿、患儿父母及外祖母)进行JAK3基因PCR扩增、基因测序、单核苷酸多态性(SNPs)及TCRVβ亚家族克隆多态性分析。结果患儿免疫表型符合T-B+NK-,主要表现为反复呼吸道、消化道感染。JAK3基因突变为复合杂合突变,两个等位基因均为错义突变,分别来自父系第9外显子(1308G>A:R403H)和母系的第24外显子(3354G>A:R1085Q),患儿父母和外祖母分别为上述突变携带者。患儿T细胞抗原受体库未能检出。查阅文献截止2007年,国内外共35例患儿30种JAK3基因突变在JAK3base注册,免疫学表型均符合T-B+NK-SCID,但临床表现从经典SCID到基本正常均有报道。结论 JAK3缺陷患者外周血T细胞及NK细胞严重减少,B细胞数量正常或稍减少但存在功能障碍,免疫球蛋白水平明显降低,故临床表现为反复细菌和病毒感染,对临床症状及实验室检查高度怀疑JAK3缺陷的患者,可通过STAT5磷酸化分析、基因测序、蛋白印迹或流式测定JAK3蛋白含量等技术进一步明确诊断。主要治疗方式为干细胞移植,若不及时进行免疫重建多数死于婴儿期。     

Schimke免疫-骨发育不良2例报告并文献复习

报道2例Schimke免疫-骨发育不良（Schimke immuno-osseous dysplasia,SIOD）患儿,以提高对该病的认识。方法　收集2008年8～12月就诊于首都儿科研究所附属儿童医院的2例患儿临床资料,并复习文献总结其临床特点、发病机制及预后。结果　2例患儿均表现为激素耐药肾病综合征,病理表现为局灶节段性肾小球硬化（FSGS）,脊柱骨骺发育不良,T细胞免疫缺陷及特殊面容,符合典型SIOD诊断。结论　对于激素耐药肾病综合征患者,如伴有特殊面容、身材矮小、T细胞免疫缺陷等其他系统异常应该考虑到SIOD的可能性,以尽早诊断,避免过度治疗。     

Cerebral complications in Schimke immuno-osseous dysplasia

Schimke immuno-osseous dysplasia is a multisystem disorder consisting of spondylo-epiphysial dysplasia, progressive renal insufficiency due to focal segmental glomerulosclerosis, and immunodeficiency. Cerebrovascular complications have only been described in five patients. Here we report a patient with prominent neurological symptoms most likely caused by transient ischaemic attacks. Conclusion Neurological symptoms consisted of re-peated brief spells of hemiparaesthesia, motoric aphasia and diplopia. MRI studies of the CNS revealed progressive white matter lesions. Morphological changes as well as neurological deficits are compatible with cerebral ischaemia. Received: 13 November 1996 / Accepted: 18 March 1997     

Schimke immuno-osseous dysplasia: two cases

We report two patients with Schimke immuno-osseous dysplasia (SIOD). SIOD is characterised by growth retardation, renal failure, spondylo-epiphyseal dysplasia, specific phenotype and defective cellular immunity. These two children demonstrated a bone dysplasia with characteristic radiographic appearances. We postulate that SIOD should be considered in all cases of growth failure with an unclassifiable bone dysplasia. Repeated urine tests for proteinuria could be helpful in reaching the correct diagnosis.     

Cerebellar defect associated with Schimke immuno-osseous dysplasia

We report the finding of an absent cerebellar hemisphere and partial absence of the cerebellar vermis in a child with dysmorphic features, spondyloepiphyseal dysplasia, steroid resistant nephrotic syndrome secondary to focal segmental glomerulosclerosis and T-cell lymphopenia (Schimke immuno-osseous dysplasia). These findings have not, to our knowledge, been described before and are likely to represent the consequence of a vascular event either in-utero or in early infancy. Conclusion Cerebral imaging should be performed early in the course of the disease and should be repeated if further neurological events develop. Received: 5 December 2000 / Accepted: 24 January 2001     

Schimke免疫-骨发育不良儿童基因分析

目的 对2例临床疑似Schimke免疫-骨发育不良(Schimke immuno-osseous dysplasia,SIOD)患儿进行SMARCAL1基因分析,寻找致病突变,进而了解中国人SMARCAL1基因突变类型以及基因诊断的意义.方法 对2008-2014年于北京协和医院就诊的2例临床表现为脊柱骨骺发育不良、身材矮小不对称,进行性加重的肾病综合征,细胞免疫功能缺陷的疑似SIOD患儿,在获得知情同意后,取患儿及其父母新鲜抗凝外周血,常规提取DNA,设计引物后对SMARCAL1全部16个外显子及外显子内含子交界处进行PCR扩增,经凝胶电泳分离PCR产物,纯化,测序.并对发现的错义变异进行SIFT软件验证以及50名正常人测序验证.结果 (1)2例患儿共检测到4种基因变异:两种错义变异:c.1129G＞C,p.Glu377Gln及c.1933C＞T,p.Arg645Cys.两种剪切突变:c.1334 +1G＞A及c.2142-1 G＞A.(2)c.1129G＞C,p.Glu377Gln为已报道的致病突变,检验50名正常人中,15名携带此变异,证实其为单核苷酸多态性,而非致病突变.(3)c.1334+ 1G ＞A及c.2142-1 G＞A为本研究发现的两种新突变.结论 (1)通过SMARCAL1基因分析,共检测到3种致病突变,发现新突变2种.(2)错义变异c.1129G＞C,p.Glu377Gln至少在中国人种中为单核苷酸多态性,而非致病突变.     

Successful low-dose immunotherapy after kidney transplantation in a 10-year-old girl with Schimke immuno-osseous dysplasia

Background

This case report highlights a successful steroid-free, low-dose immunosuppressive protocol for renal transplantation in a pediatric patient with Schimke immuno-osseous dysplasia with excellent 7-year patient and graft survival. Schimke immuno-osseous dysplasia is a rare multisystem disorder involving the kidney. Renal transplantation is a therapeutic option, but posttransplant mortality is high due to severe infections and posttransplant lymphoproliferative disease.

Methods

A 10-year-old girl diagnosed with Schimke immuno-osseous dysplasia and end-stage renal disease underwent an AB0-compatible living-related kidney transplantation, with no donor-specific antibodies. Our standard immunosuppression protocol was modified due to the risk of infection. Basiliximab was used as induction therapy, and a reduced dose of mycophenolate mofetil and tacrolimus was initiated following transplantation, maintaining the patient on a low tacrolimus target (3–5 μg/L). Mycophenolate mofetil was discontinued after 8 weeks due to neutropenia and the patient was kept on tacrolimus as monotherapy. Five years posttransplant the patient developed acute onset of neurological symptoms, consisting of ataxia, lack of voluntary coordination, balance, aphasia and dysphagia, and diplopia. She recovered without neurological deficits within 6 weeks. Extensive evaluation revealed no pathology. To avoid a possible a component of tacrolimus-induced cerebral vasoconstriction, the immunosuppressive therapy was changed to everolimus.

Results

Seven years posttransplant, the patient has experienced no serious infections, no rejections, and had excellent graft function, and no de novo donor-specific antibodies.

Conclusions

The present results indicate that low-dose immunosuppressive therapy after renal transplantation with low immunological risk should be considered for patients with Schimke immuno-osseous dysplasia.     

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal failure, 3) lymphopenia with recurrent infections, and 4) cerebral ischaemia. Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. We emphasize the high incidence of cerebral ischaemia and ocular abnormalities, define the high incidence of thyroid dysfunction and blood cytopenia, and confirm the absence of effective and durable medical therapies. Conclusion Schimke immuno-osseous dysplasia is a multi-system autosomal recessive disorder with variable expression that affects the skeletal, renal, immune, vascular, and haematopoietic systems. Medical therapy is limited especially for more severely affected individuals. Received: 16 November 1998 / Accepted: 15 June 1999     

Medullary nephrocalcinosis in Schimke immuno‐osseous dysplasia

Schimke immuno‐osseous dysplasia (SIOD) is a rare hereditary disease characterized by skeletal dysplasia, immune deficiency and progressive renal disease. Kidney involvement mainly determines the prognosis. The most common renal pathology is focal segmental glomerulosclerosis (FSGS). Medullary nephrocalcinosis refers to the diffuse deposition of calcium salts in renal medulla and has not previously been identified in SIOD. Here we report the first case of a pediatric patient having typical features of SIOD with medullary nephrocalcinosis.     

Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype

Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive disorder caused by loss-of-function mutations in SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), with clinical features of growth retardation, spondylo-epiphyseal dysplasia, nephrotic syndrome, and immunodeficiency. We report a patient with SIOD and SMARCAL1 splice mutation (IVS4-2 A>G) in a nonconsanguineous Ashkenazi family, who came to our attention at 1 mo of age due to renal malformation and only later developed signs compatible with Schimke. Interestingly, residual SMARCAL1 mRNA levels in the patient's peripheral blood were lower compared with those observed in both asymptomatic brothers' carrying the same bi-allelic mutation, whereas the latter had levels similar to those found in heterozygous carriers (parents and sister). Examination of the carrier frequency of the splice mutation in the Ashkenazi population demonstrated 1 carrier in 760 DNA samples. In situ localization of SMARCAL1 in human kidneys as well as analysis of its temporal expression during murine nephrogenesis and in the metanephric organ culture suggested a role in the early renal progenitor population and after renal maturation. Thus, disease severity within the same family might be modified by the splicing machinery. The renal expression pattern of SMARCAL1 explains a broader spectrum of renal disease in SIOD than previously described.