巨细胞病毒感染致先天性肾病综合征二例

继发性先天性肾病综合征（CNS）是指出生后3个月内起病的肾病综合征（NS）。其中分为典型的芬兰型先天性肾病综合征（特发性）及新生儿感染等因素所致的先天性肾病综合征（获得性）。后者国内外报道的有先天性梅毒伴NS、先天性弓形虫伴NS、先天性风疹伴NS等,继发于人CMV感染的CNS国内报道较少。现将我院收治的2例CMV感染致CNS报道如下。[第一段]     

先天性梅毒38例临床分析与随访观察

目的探讨先天性梅毒早期诊断、及时治疗与预后的关系.方法对38例经临床、X线检查及梅毒血清学检查确诊的先天性梅毒进行资料分析与随访.结果正规青霉素治疗后,临床痊愈28例,好转8例,放弃治疗2例.16例获得随访,快速血清反应素环状卡片试验6个月转阴率为62.5%,1岁时转阴率达81.25%;血清梅毒螺旋体血凝试验均持续阳性.骨损害于1岁左右恢复正常.结论先天性梅毒应早期诊断,及时治疗,青霉素治疗要足量,疗程应正规,以免复发.     

新生儿先天性梅毒脏器功能损害的临床分析

目的 探讨新生儿先天性梅毒脏器功能损害的特点.方法 回顾性总结2002年3月～2003年4月收入我院新生儿病房的15例先天性梅毒患儿的临床资料.结果 该病临床表现以多脏器功能损害为主,其中皮肤损害居首位,肝脏损害居第2位,同时伴有心、肺、胃肠道及血液系统损害.15例患儿中并发3个以上脏器功能损害的有14例.结论 新生儿先天性梅毒感染引起脏器功能损害的严重性,应引起重视.对有出生后无原因发热、皮疹、肝脾大、水肿及心肺功能改变者应全部进行筛查,有利于早期诊断和治疗.     

先天性肾病综合征的治疗进展

先天性肾病综合征(CNS)通常指出生3个月内发病,临床表现符合肾病综合征(NS)(大量蛋白尿、低清蛋白血症、严重水肿和高胆固醇血症).根据病因可分为原发性(遗传性)和继发性(非遗传性),原发性因肾小球滤过屏障组成成分或足细胞发育所需调节因子相关基因突变所致;继发性因多种病原体宫内感染或母亲疾病等导致.原发性CNS的临床多表现为激素耐药性NS,激素或免疫抑制剂治疗无效,肾移植是唯一有效的治疗方式.     

入院时诊断未明的先天性梅毒3例报告

先天性梅毒又称胎传梅毒 ,是梅毒螺旋体由母体经过胎盘进入胎儿血循环中所致的梅毒。近年来 ,先天性梅毒的发病呈上升趋势 ,国内文献也陆续有个案报道 ,早期及时诊断对患儿的预后有利 ,我院自 1999年 6月～2 0 0 0年 11月连续收治入院时诊断未明的先天性梅毒 3例 ,现报告如下。病例摘要例 1 女 ,2 2天 ,因腹泻 4天 ,咳嗽气急半天伴发热来我院就诊 ,查体发现腹胀 ,拟“腹胀待查 ,急性感染”收治入院。第 1胎 ,胎龄38周 ,顺产 ,出生体重 2 890ｇ ,无窒息抢救史。生后一周起面部、臀部及双下肢出现红色皮疹。入院查体 :神清 ,发育营养一般 ,Ｔ3…     

先天性梅毒临床表现

先天性梅毒又称胎传梅毒,多通过母婴垂直传播,是梅毒螺旋体自母体经胎盘及脐静脉进入胎儿血循环所致,梅毒螺旋体有吸附和产生分解酶的功能,在孕早期就能通过绒毛膜进入胎儿体内,在妊娠早、中、晚各期,梅毒螺旋体均可穿越胎盘进入脐带血感染胎儿,被感染几率接近100%。常累及全身多系统和脏器,被感染的婴儿出生时出现临床症状者仅40%,约60%无症状,常于生后数周或数月内发病[1,2]。由于新生儿早期先天性梅毒表现不典型,患儿母亲相关病史难以提供,新生儿又常并其他疾病,极易延误诊断。先天性梅毒可分为早期先天性梅毒、晚期先天性梅毒和潜伏期梅…     

入院时诊断未明的先天性梅毒3例报告

先天性梅毒又称胎传梅毒,是梅毒螺旋体由母体经过胎盘进入胎儿血循环中所致的梅毒.近年来,先天性梅毒的发病呈上升趋势,国内文献也陆续有个案报道,早期及时诊断对患儿的预后有利,我院自1999年6月～2000年11月连续收治人院时诊断未明的先天性梅毒3例,现报告如下.     

泼尼松对肾病综合征患儿骨吸收功能的影响

目的探讨泼尼松对肾病综合征(NS)患儿骨吸收功能的影响。方法以2001年8月至2002年10月河北医科大学第二医院儿科收治的25例NS患儿为研究对象,采用自身对照形式,测定患儿应用泼尼松治疗前(激素治疗前组)和应用足量泼尼松治疗后(激素足量治疗组)尿脱氧吡啶啉排泄率(DPD/Cr)及24h尿钙浓度。结果在激素治疗4~8周后,激素足量治疗组尿DPD/Cr明显高于激素治疗前组(P<0.05),24h尿钙明显升高(P<0.01),但二者无相关性。结论泼尼松足量治疗阶段,NS患儿骨吸收功能增强,易导致骨质疏松;激素治疗期间24h尿钙作为评价骨吸收的指标缺乏特异性。     

小儿激素抵抗型肾病综合征诊断治中的一些问题

肾上腺皮质激素(下简称激素)用于治疗小儿原发性肾病综合征(Ns)治疗已约半个世纪,在大多数患儿中激素可迅速诱导NS缓解,极大地改善了NS的预后;但部分患儿呈激素抵抗(steroid resistant),这一问题是目前小儿NS治疗中的难点之一,是改善NS预后的关键,受到临床工作者的极大关注。今仅就其诊治中近年的一些进展概述如下。一、激素抵抗的定义虽然多数学者均以足量激素治疗一定疗程后NS未能缓解者命为激素抵抗,但具体指标并不完全一致。多数以每日投用激素4-8周为终点,如此时NS未缓解为激素抵抗;     

新生儿先天性梅毒预防及早期诊断探讨

目的 探讨母亲梅毒治疗情况对新生儿先天性梅毒发病的影响.方法 回顾性分析2007年1月至2010年6月我科梅毒螺旋体明胶颗粒凝集试验(TPPA)阳性新生儿的临床资料.将TPPA阳性新生儿分成母亲正规治疗组、非正规治疗组及未治疗组,对3组新生儿先天性梅毒发病情况进行统计学分析,总结新生儿先天性梅毒的临床表现.结果 117例TPPA阳性新生儿中,确诊先天性梅毒患儿26例.母亲正规治疗组新生儿先天性梅毒发生率明显低于非正规治疗组及未治疗组（6.6％比47.1％、36.1％,P均＜0.01）.新生儿先天性梅毒可累及多个系统,表现为皮肤损害、病理性黄疸、肝脾肿大、水肿、贫血、血小板减少、C反应蛋白增高、骨损害、脑脊液异常等.结论 新生儿先天性梅毒临床表现缺乏特异性,早期诊断需结合母亲病史及梅毒血清学检查.积极防治母亲梅毒感染是预防新生儿先天性梅毒的关键.     

Congenital nephrotic syndrome-a treatable cause

A 27-day-old infant from a tribal area presented with congenital nephrotic syndrome (CNS). The presence of clinical features of syphilis, proven syphilis in the mother and complete recovery following penicillin therapy confirmed a diagnosis of congenital syphilis. In developing countries, treatable causes of CNS such as syphilis need to be considered in infants presenting with nephrotic syndrome.     

Haemophagocytic lymphohistiocytosis in children

OBJECTIVE: To evaluate the clinical and diagnostic features of children presenting with haemophagocytic lymphohistiocytosis (HLH), evolution of the disease and outcomes in response to treatment. METHODOLOGY: The medical records of 12 children, aged 5 weeks to 13 years at diagnosis, with HLH managed at a single institution were reviewed. RESULTS: Presenting features were fever, hepatosplenomegaly, pancytopenia and hypertriglyceridemia or hypofibrinogenemia. Nine patients (75%) developed central nervous system (CNS) disease. Only one child with CNS disease survived. Five children had complete responses to therapy (42%), but all relapsed at a median of 1.5 months after starting treatment (range 2 weeks to 5 months). Two of the children treated are long-term survivors (17%), both after allogeneic bone marrow transplantation. All deaths occurred in the context of active disease. CONCLUSIONS: Haemophagocytic lymphohistiocytosis is a disease with a poor prognosis. Central nervous system complications are common and response to treatment usually is transient. This study provides support for the use of immunomodulatory therapy for remission introduction followed by consideration of allogeneic bone marrow transplantation.     

Congenital nephrotic syndrome

In strict sense, the term "congenital nephrotic syndrome" (CNS) refers to those cases of the nephrotic syndrome in which clinical symptoms, e.g. massive proteinuria, hypoalbuminemia and oedema are present at birth. However, the term is often extended to babies presenting with nephrotic syndrome before 3 months of age in whom proteinuria is likely to be present earlier, before the signs of the nephrotic syndrome become clinically manifest. The most common and probably the most severe type of CNS is the congenital nephrotic syndrome of the Finnish type (CNF), which is considered as the prototype of CNS. On the basis of this syndrome the clinical course, diagnosis and complex treatment strategy are described. A well-documented case of Denys-Drash syndrome - a rare type of congenital nephrotic syndrome is also presented.     

母梅毒之新生儿13例临床分析

对母确诊为梅毒的13例新生儿病例进行临床分型、影像学检查、免疫测定和定期随访,探讨母产前梅毒螺旋体治疗情况对新生儿发病的影响,新生儿期先天性梅毒(CS)的主要临床表现。新生儿期确诊为CS共5例,疑诊3例,正常5例;确诊5例中母未治疗4例,产时较治疗前RPR滴度下降<4倍1例,产时RPR滴度>1:4共4例,新生儿RPR滴度≥母4倍3例。CS临床表现以早产、肝脾肿大、皮疹为主。神经系统早期改变主要为脑脊液蛋白增高。13例中失防2例,确诊组和正常组各1例;确诊组1例给予重复治疗,3例RPR滴度不同程度下降;疑诊组RPR滴度均在4个月内阴转;正常组持续阴性。结论:新生儿期的CS症状不典型,需根据临床、X线检查以及血清学等综合分析进行诊断。母产前定期监测、有效治疗可降低CS的发病率,而新生儿科医师对该病的认识和警惕性有利于患儿得到及时治疗。     

Congenital syphilis in the newborn.

We studied 53 newborn babies with congenital syphilis. The common clinical features seen were low birth weight, hepatosplenomegaly, anaemia, jaundice, and symmetrical superficial desquamation of the skin affecting palms and soles. The presence of these clinical signs is highly suggestive of early congenital syphilis. Hydrops fetalis without rhesus or ABO isoimmunisation should always arouse the suspicion of congenital syphilis.     

Congenital syphilis: A guide to diagnosis and management

Although congenital syphilis is a rare disease in Canada, infected infants may experience severe sequelae, including cerebral palsy, hydrocephalus, sensorineural hearing loss and musculoskeletal deformity. Timely treatment of congenital syphilis during pregnancy may prevent all of the above sequelae. However, the diagnosis of suspected cases and management of congenital syphilis may be confusing, and the potential for severe disability is high when cases are missed. The present review provides assistance to practitioners in the diagnosis of suspected cases and management of children with presumed or confirmed infection.     

Congenital and infantile nephrotic syndrome in Thai infants

Congenital and infantile nephrotic syndrome reported from the Eastern world is rare and might be a different entity from that in the West. In a retrospective review of 10 nephrotic syndrome in Thai infants (5 girls and 5 boys), 7 were diagnosed with congenital nephrotic syndrome and 3 with infantile nephrotic syndrome. Two had congenital nephrotic syndrome secondary to congenital syphilis. All had edema, ascites, and failure to thrive. Of the 3 patients tested for thyroid function, all showed hypothyroidism. Two patients developed renal failure. Renal tissue was examined from 4 patients from 3 biopsies and 2 autopsies; only 1 patient showed tubular microcysts. Symptomatic therapy was performed concurrently with penicillin therapy in 2 patients having congenital syphilis. Prednisolone, cyclophosphamide, captopril, and enalapril were tried in some patients, with little effect. Five patients died from respiratory failure complicated by later infection, 1 patient died from renal failure, and 4 patients were lost to follow-up. Nephrotic syndrome in the first year of life in the Eastern world is rare. Prognosis of nephrotic syndrome in Thai infants at this time is still poor.     

Congenital syphilis: an emerging emergency also in Brazil

OBJECTIVE: To highlight to the fact that some newborns are not identified as having congenital syphilis, and will present to an emergency room within a few months with a severe disease. METHOD: Review of the charts concerning 3 patients with congenital syphilis, as well as review of the literature using Medline and Lilacs databases, covering the period from 1988 to 1999. RESULTS: We describe the case of 3 infants whose diagnosis of congenital syphilis was only established after the neonatal period, when they presented to the emergency room and were admitted to the pediatric intensive care unit. The first patient had neurosyphilis and nephrotic syndrome, the second had neurosyphilis, and the third had hepatitis. We discuss the clinical aspects of the cases, and comment on other clinical manifestations of congenital syphilis that should be within the purview of pediatric emergency medicine. We analyze the reasons for the failure to diagnose syphilis at birth, and describe some risk factors for gestational syphilis. CONCLUSIONS: Considering the rising incidence of syphilis in Brazil, and the possibility that the congenital infections are not recognized at birth, emergency physicians must keep a high degree of suspicion and an awareness of maternal risk factors, prenatal serology pitfalls, as well as of the several clinical presentations of congenital syphilis that can develop in the first months of life.     

Haemophagocytosis in early congenital syphilis

A previously healthy male infant developed hepatosplenomegaly, severe anaemia and thrombocytopenia 5 weeks after birth. Marked haemophagocytosis was present in the bone marrow. A typical maculopapular rash suggested early congenital syphilis. The diagnosis was confirmed by serology and by the presence of untreated syphilis in both parents. Conclusion Syphilis needs to be excluded in infants suspected of haemophagocytic lymphohistiocytosis. Received: 8 April 1998 / Accepted in revised form: 2 November 1998     

小儿先天性肝囊肿

目的 探讨小儿先天性肝囊肿的临床表现、诊断及鉴别诊断，正确选择治疗方法。方法 回顾性研究我院自1972年至今的14例小儿先天性肝囊肿病例，评价其治疗手段。结果 本组14例均行手术治疗，其中6例多囊肝病例中，1例术后呼吸衰竭死亡。8例孤立性肝囊肿中，2例行开窗引流，5例行不同形式的肝切除手术，1例行囊肿空肠Roux—Y吻合术。除3例多囊肝病例术后仍有轻度肝肿大外，其余患儿预后良好。结论 小儿先天性肝囊肿的治疗，应根据其不同表现，采取不同治疗手段，以达到满意疗效。