胎传梅毒致继发性先天性肾病综合征一例并文献复习

目的探讨胎传梅毒致继发先天性肾病综合征的诊断、治疗和预后,以提高临床医生对该病的认识。方法报告我院1例胎传梅毒继发先天性肾病综合征临床诊治过程、随访情况,对该患儿行超声引导下负压肾脏穿活检术,肾活检病理进行分析,并复习相关文献。结果患儿男,2个月起病,临床表现为肾病综合征、贫血、肺部感染、皮疹,尿常规:尿蛋白4+,潜血+。本例患儿其梅毒螺旋体定性滴度4倍于其母,肾活检病理结果回报,排除了由基因致的原发性肾病综合征,明确胎传梅毒继发先天性肾病综合征的诊断。停用糖皮质激素,经青霉素驱梅毒治疗14天,患儿全身无水肿,双侧腹股沟区少量结痂,尿常规:蛋白+-,潜血-。以"congenital syphilis"为关键词在万方数据库检索报道胎传梅毒致先天性肾病综合征,选取7篇国内文中报道典型18例梅毒性肾损害及临床资料完整者,仅有2例报道肾穿病理为非典型模性肾病,放弃3例,死亡2例,余13例临床给予驱梅治疗,经随访效果良好。结论婴儿期起病为主,临床以肾病综合征现象为突出表现,伴肝脾大、皮疹、贫血感染现象等,应考虑到梅毒肾病可能,需对患儿父母进行梅毒血清学检查,明确病理诊断后给予驱梅疗法,而非激素治疗。本例患儿早期经足量足疗程驱梅治疗疗效佳,预后良好。     

新生儿弥漫性系膜硬化型先天性肾病综合征一例报告并文献复习

目的报道一例新生儿弥漫性系膜硬化型先天性肾病综合征,以提高对该病的认识。方法收集一例于2010年10月在中山大学附属第一医院儿科住院确诊为先天性肾病综合征弥漫性系膜硬化型的患儿临床资料,并复习文献,总结弥漫性系膜硬化型先天性肾病综合征的病因、临床表现、病理特点及预后。结果患儿生后即有水肿、大量蛋白尿等肾病综合征表现,并很快出现肾功能不全,进展至肾功能衰竭,肾活检病理符合弥漫性系膜硬化型,2个多月后死亡。结论先天性肾病综合征弥漫性系膜硬化型的临床表现为出生时或幼儿期内出现肾病综合征的特征,起病时可已有肾功能不全,进行性肾功能减退,确诊须肾穿病理,本病预后差,目前无特殊治疗。     

先天性肾病综合征4例报告

先天性肾病综合征(ｃｏｎｇｅｎｉｔａｌｎｅｐｈｒｏｔｉｃｓｙｎｄｒｏｍｓ,ＣＮＳ)是指出生后3-6个月内起病的肾病综合征,预后极差。在治疗上对类固醇激素和免疫抑制剂均无效应。我院近年来收治4例,临床表现疗效与文献报道有所不同,现报告如下。临床资料一、一般资料:4例中男3例,女1例。入院日龄7天-2月,3例足月产,1例过期产,出生时体重3-3.5ｋｇ,无窒息史。4例先天性肾病中有1例患先天性梅毒继发性肾病。以上病便均符合ＣＮＳ的诊断标准[1]。二、母亲因素:1例ＴＰＨＡ试验阳性,余在孕期无异常表现。三、临床表现:见下表表　ＣＮＳ病例临…     

先天性梅毒研究进展

近十几年来随着性传播疾病在我国的传播蔓延,先天性梅毒的发病率也随之增加。先天性梅毒又称胎传梅毒,是梅毒螺旋体由母体经过胎盘而发生的胎儿宫内感染。妊娠任何时期都可能发生胎传梅毒。先天性梅毒的发生与母亲妊娠期梅毒是否治疗密切相关。孕母感染后可发生流产、死胎、死产、新生儿死亡和先天性梅毒。对孕妇的早期诊断、系统治疗是预防先天性梅毒的关键。青霉素仍然是治疗梅毒最有效的药物。早期诊断系统治疗先天性梅毒患儿是减少其并发症,提高治愈率的唯一手段。     

先天性梅毒99例临床分析

目的了解新生儿先天性梅毒的临床特征,提高对胎传梅毒的诊治水平。方法对99例新生儿先天性梅毒患儿的临床资料进行分析,并总结其临床特征。结果新生儿先天性梅毒临床表现多样,易漏诊及误诊,99例先天性梅毒患儿经治疗后87例好转出院,9例放弃治疗出院,3例死亡。结论新生儿先天性梅毒要注意早期诊断、早期干预,及时治疗,以改善疾病的预后。     

新生儿先天性梅毒的临床分析与随访

目的重视新生儿先天性梅毒的危害性和早期诊断.方法分析5例新生儿先天性梅毒的临床特点,脏器损害发生情况及治疗、随访.结果除1例家属放弃治疗自动出院外,余4例存活并随访.于6个月时快速血清反应素环状卡片试验转阴,于1w岁时各脏器损害恢复正常,但梅毒螺旋体血凝试验持续阳性.结论新生儿先天性梅毒早诊断,正规青霉素治疗及保护脏器功能,支持疗法可改善预后.     

先天性梅毒8例临床分析

新生儿先天性梅毒是指患有梅毒的妊娠期妇女梅毒螺旋体通过胎盘经血液循环感染胎儿,使胎儿出生后即患病。先天性梅毒患儿出生后即可出现皮肤粘膜、骨骼及内脏受损的临床症状和体征,并可造成各脏器功能障碍或死亡,且易被临床医生误诊或漏诊。因此积极开展孕期梅毒筛查工作和孕期梅毒治疗是预防先天性梅毒的重要途径和有力措施。     

新生儿期先天性梅毒28例临床诊断和治疗

本科自１９９６年７月至９７年６月共收治新生儿期先天性梅毒２８例，男２３例，女５例；早产儿１２例，足月儿１６例，小于胎龄儿７例，适于胎龄儿２１例。出生体重≤１５００ｇ３例，１５００２５００ｇ１２例，２５００４０００ｇ１３例，出生窒息１２例。好转治愈出院１９例，死亡４例，自动出院５例。诊断标准：父或母均有明确梅毒感染史，母亲ＴＰＨＡ或ＲＰＲ＋ＴＰＨＡ试验阳性，患儿ＴＰＨＡ和ＲＰＲ试验均为阳性。临床表现为多脏器受损。治疗：青霉素５万单位／ｋｇ，每８１２小时静注１次，共１０１４天。     

以贫血黄疸首诊的先天性梅毒诊治分析

目的探讨不典型先天性梅毒的临床表现,诊治要点及预后。方法回顾性分析以贫血黄疸首诊的先天性梅毒临床资料,对其临床表现、相关实验室检测指标进行统计分析。结果 8例患儿均有营养不良、贫血、皮肤巩膜黄染,6例有浅表淋巴结肿大,肝脏肿大5例,脾肿大3例,皮肤出血1例,均无梅毒性天疱疮。实验室发现有不同程度低增生性贫血、血小板降低及肝功能损害,1例有骨损害,1例有神经系统受累。选用青霉素治疗,治愈5例,好转2例。结论贫血黄疸可为先天性梅毒首诊症状,及时发现,早期正规治疗是改善预后的关键。     

先天性梅毒迟诊四例

病例:我院于2002年诊治了4例先天性梅毒,现分述如下: 病例:例1:患儿男,15d,妊1产1,黄疽14d,曾在我院门诊治疗,疗效欠佳.其母在外院因贫血需输血治疗,输血前查梅毒筛查试验阳性,遂再次带小儿来我院检查.体查:无发热,皮肤黄疽中度,未见皮疹.无鼻塞,前囟平软.心肺听诊无异常.     

Proteasuria—The impact of active urinary proteases on sodium retention in nephrotic syndrome

Sodium retention and extracellular volume expansion are typical features of patients with nephrotic syndrome. In recent years, from in vitro data, endoluminal activation of the epithelial sodium channel (ENaC) by aberrantly filtered serine proteases has been proposed as an underlying mechanism. Recently, this concept was supported in vivo in nephrotic mice that were protected from proteolytic ENaC activation and sodium retention by the use of aprotinin for the pharmacological inhibition of urinary serine protease activity. These and other findings from studies in both rodents and humans highlight the impact of active proteases in the urine, or proteasuria, on ENaC‐mediated sodium retention and edema formation in nephrotic syndrome. Targeting proteasuria could become a therapeutic approach to treat patients with nephrotic syndrome. However, pathophysiologically relevant proteases remain to be identified. In this review, we introduce the concept of proteasuria to explain tubular sodium avidity and conclude that proteasuria can be considered as a key mechanism of sodium retention in patients with nephrotic syndrome.     

早发型先天性骨梅毒的X线诊断

目的探讨先天性早发型骨梅毒X线表现及其特点。提高对早发型先天性骨梅毒的认识。方法回顾性分析近4年临床资料较完整，均有四肢长骨x线检查资料，并经血清学证实为先天性早发型骨梅毒27例。结果按照病变累及的部位分为干骺端炎：骨干炎、骨膜炎。27例均有干骺端炎，主要表现为先期钙化带不规则增厚及其下方的透亮横带；6例有骨干炎。显示轻度的斑片状和虫蚀状骨质破坏，以及皮质增厚为主的骨质增生；18例有骨膜炎，显示层状、葱皮状骨膜增厚。骨骺及颅骨、椎骨、肋骨一般不累及。结论四肢长骨摄片应作为评估新生儿先天性骨梅毒的一种重要手段，可以早期发现新生儿先天性梅毒骨损害及其受累程度，有助于临床进行及时治疗。     

Laboratory diagnosis of congenital syphilis by immunoglobulin M (IgM) and IgA immunoblotting.

We screened cord blood or serum samples from 101 infants at risk for congenital syphilis and serum samples from their mothers for immunoglobulin G (IgG), IgM, and IgA antibodies to Treponema pallidum by western blotting (immunoblotting). Clinical evaluation showed that six infants had signs and/or symptoms consistent with congenital syphilis. The sera from five of these infants were IgM blot positive, and four were IgA blot positive. Four asymptomatic infants had serologic evidence of congenital syphilis. The sera from three of these infants were IgM blot positive, and two were IgA blot positive. However, the IgM reactivity of the serum from one asymptomatic infant, which was also IgA positive, was abolished by protein G treatment. An IgM capture enzyme-linked immunosorbent assay corroborated the presence of IgM antibodies in six of seven IgM blot-reactive sera. Overall, for detection of symptomatic congenital syphilis, a sensitivity of 83% for IgM blotting and 67% for IgA blotting was obtained. The significance of positive IgM or IgA Western blots for asymptomatic infants requires further study to confirm infection in these infants.     

肾病患者血清IL-8,FN和尿IL-8水平检测的临床意义

目的 :了解肾病患者血清IL - 8、FN和尿IL - 8水平、变化及意义。方法 :采用ELISA夹心法在疾病活动期和激素冲击治疗后 8周测定 5 1例肾病患者血清IL - 8、FN和晨尿IL - 8水平 ,并以 36例随机健康者作比较。结果 :肾病患者血清及尿IL - 8含量显著高于正常人组 (P <0 0 1)但与Scr无显著相关性 (r =0 .12 5 ,P >0 .0 5和r =0 .0 75 ,P >0 .0 5 )而血清FN水平则低于正常人组 (P <0 0 5 )。激素治疗 8周后 ,血、尿IL - 8水平均降低 (P <0 0 5 ) ,血清FN水平有所升高 ,但与治疗前比较无显著差异 (P >0 0 5 )。结论 :IL - 8、FN与肾病的发病机制有关 ,测定血清IL - 8、FN和尿IL - 8有助于判断肾病患者的炎症活动状况 ,有一定的临床价值。     

Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency

Sucrase-isomaltase deficiency is an inherited disaccharidase deficiency that leads to malabsorption of sucrose, with resulting diarrhea and abdominal distention and cramps. We investigated the sucrose-splitting effect of viable yeast cells in eight children with congenital sucrase-isomaltase deficiency, by means of the sucrose hydrogen breath test. This test is based on the fact that hydrogen is released from the malabsorbed sucrose by the colonic microflora. We found that 0.3 g of lyophilized Saccharomyces cerevisiae, given after loading with 2 g of sucrose per kilogram of body weight, reduced hydrogen excretion in all patients, on average by 70 percent, in parallel with a complete loss or evident reduction of clinical symptoms. In vitro, lyophilized and fresh S. cerevisiae (fresh baker's yeast) had appreciable sucrase activity, a low isomaltase and maltase activity, and virtually no lactase activity. The sucrase activity was more inhibited by undiluted than by diluted gastric juice. We conclude that patients with congenital sucrase-isomaltase deficiency who intentionally or unintentionally consume sucrose can ameliorate the malabsorption by subsequently ingesting a small amount of viable yeast cells, preferably on a full stomach.     

Hereditary disorders of albumin synthesis

Albumin, the major serum protein, is considered to be responsible for maintenance of normal serum colloid osmotic pressure, transport of certain hormones and maintaining an endogenous source of amino acids. The acute loss of albumin in the nephrotic syndrome leads to severe generalized peripheral edema and difficulties in maintenance of normal blood pressure as well as hypocalcemia. Yet, there are now 14 reported cases of congenital analbuminemia in which serum albumin is absent or greatly reduced without clinical evidence of edema, decreased hormone levels or abnormal amino acid requirements. These "experiments of nature" are reviewed in detail comparing clinical and laboratory findings in these patients with the postulated effects of a low serum albumin level.     

Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.

Three sibs born to consanguineous parents had congenital nephrotic syndrome, microcephaly, and psychomotor retardation. Pathology of the kidneys showed diffuse mesangial sclerosis with deposits of IgG and C3 in the mesangium and glomerular basement membranes. All three children died before the age of 3 years. Of 19 published cases of children with the association of congenital nephrotic syndrome and microcephaly, only four had histological evidence of diffuse mesangial sclerosis, and two of their sibs probably had the same disease. The association of nephrotic syndrome owing to congenital diffuse mesangial sclerosis, microcephaly, and mental retardation appears to be a distinct syndrome with an autosomal recessive mode of inheritance.     

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome

Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth. The disease is most common in Finland, but many patients have been identified in other populations. The disease is caused by mutations in the gene for nephrin which is a key component of the glomerual ultrafilter, the podocyte slit diaphragm. A total of 30 mutations have been reported in the nephrin gene in patients with congenital nephrotic syndrome worldwide. In the Finnish population, two main mutations have been found. These two nonsense mutations account for over 94% of all mutations in Finland. Most mutations found in non-Finnish patients are missense mutations, but they include also nonsense and splice site mutations, as well as deletions and insertions. This mutation update summarizes the nature of all previously reported nephrin mutations and, additionally, describes 20 novel mutations recently identified in our laboratory.