新生儿窒息后急性肾损伤的诊治进展

新生儿窒息后急性肾损伤发生率可达56％,易导致多脏器损伤及新生儿死亡.该文综述了近年来国内外窒息后肾损伤的早期诊断生物学标记物、尿蛋白、尿酶、脉冲多普勒超声肾血流检查及治疗的新进展,对新生儿窒息后急性肾损伤的早期诊断、治疗,提高窒息新生儿的存活率、改善预后具有重要意义.     

新生儿血腹

新生儿血腹是新生儿严重急症之一,虽然临床较少见,但是,由于诊断困难,容易误诊,病死率高。复习文献,较少见到确切的新生儿生前临床发病率的报告。Potter报告新生儿腹部脏器损伤占新生儿尸检病例的1.4%。但亦有人综合报告,在分娩过程中发生新生儿腹部内脏损伤者约占3.5%。可导致新生儿血的腹腹部脏器损伤包括肝破裂、胃破裂、肾及肾上腺损伤、脾破裂及腹腔血管损伤出血等。文献认为在儿科临床工作中,必须充分认识新生儿血腹的特点与重要性,才能早期诊断及时治疗。     

围产期新生儿尿液检查及临床意义的探讨

对200例足月健康新生儿在1～5天内收集尿液作常规检查,并在一年后进行随访和复检,结果围产期内发现阳性蛋白尿血尿及白细胞尿的新生儿100例,占50％。一年后复查除1例阳性血尿外,余均正常。提出新生儿尿液常规检查是早期发现肾脏病变的简单方法,并认为新生儿尿液检查发现异常时,不一定是病理表现,应定期进行尿复查,以便早期诊断,早期治疗。     

新生儿缺氧缺血性脑病合并心肌损伤的研究

新生儿缺氧缺血性脑病(HIE)是由围生期窒息缺氧所致的脑损伤,而缺氧窒息所致损伤不是孤立发生于脑部,其中肺、肾、心及消化系统亦可由缺氧缺血而引起损伤。过去我们对HIE合并多脏器损伤认识不足,尤其是对心肌的损伤,临床观察及治疗往往仅局限于HIE,忽略了心肌损伤的诊断和治疗,而心肌损伤的早期诊断和治疗对HIE的恢复是相当重要的。本文对我院收治的98例不同程度的HIE患儿进行了心肌酶、心电图等检查,对HIE合并心肌损伤者给予早期诊断并进行相应治疗,现报告如下。     

新生儿窒息致多脏器损伤临床分析

新生儿窒息是新生儿时期常见病,是围产儿死亡的重要原因之一,窒息缺氧可导致机体内环境发生一系列改变,使心、脑、肾、肝等多脏器产生不同程度的损伤.我科于2005年1月至2007年12月共收治住院新生儿窒息76例患儿,入院后,经临床诊断、心电图检查、心肌酶谱、肝功能、肾功能、头颅CT等检查证实存在窒息后的多脏器产生不同程度损伤,并经临床治疗处理.     

新生儿窒息多脏器血流动力学研究

目的研究新生儿窒息多脏器损伤的机理，提供早期诊断方法。方法应用美国Ｕｌｔｒａｍａｒｋ－９型彩色超声诊断仪及丹麦ＡＢＬ－５００型血气分析仪等，对新生儿窒息全身性多脏器血流动力学变化进行有对照组的前瞻性研究。结果（１）窒息新生儿脑、肾上腺、肾、肝、脾、胃及肠道等各脏器血液灌流量均减少，尤以舒张期为甚；但各脏器减少的程度不一致。（２）肺动脉压力与阻力增高，严重者可致持续胎儿循环，是病情严重的标志。（３）心脏功能障碍是缺氧缺血性心肌损伤的结果，窒息性心功能障碍表现为舒张功能首先受累，而收缩功能障碍则右室重于左室。（４）低氧血症是新生儿窒息各脏器损伤的病理生理基础，且低氧血症的程度与各脏器血流速度减慢的程度呈高度正相关（ｒ＝０．９３～０．９８，Ｐ均＜０．０１），与左室射血分数降低的程度呈高度正相关（ｒ＝０．９１，Ｐ＜０．０１），与肺动脉压力增高的程度呈高度负相关（ｒ＝－０．９７，Ｐ＜０．０１）。ＱＴ离散度是评价新生儿缺氧缺血性心肌损伤特异而敏感的指标。结论血流动力学紊乱是新生儿窒息各脏器损伤的主要原因，肺动脉压升高是新生儿窒息的重要病理生理变化。超声检测各脏器血流动力学变化，可用于新生儿窒息多脏器损伤的早期诊断     

新生儿小肠闭锁和狭窄16例临床分析

新生儿小肠闭锁和狭窄为新生儿常见的消化道畸形。本文通过对16例新生儿小肠闭锁和狭窄的临床分析,提出早期诊断的重要性,认为X线检查有助于早期诊断。     

新生儿缺氧缺血性脑损伤与脑成熟度、围生因素

目的 通过早期MRI检查探讨新生儿缺氧缺血性脑损伤与脑成熟度的关系，通过围生因素分析达到早期发现、早期治疗。最大限度减轻脑损伤程度的目的。方法 对170例临床诊断为缺氧缺血性脑损伤的新生儿分析其围生因素、并于生后4～10d内行MRI检查。结果 5min Apgar评分仍低者和宫内窘迫所致的较重症HIBD患儿应密切监测，在MRI上广泛脑水肿及基底节受损的发生率中，中、重度组明显高于轻度组。结论 围生因素的分析及：MRI检查对新生儿HIBD的诊断及治疗有指导意义。     

新生儿白质损伤的定量评价

目的利用超声灰度值测定评价定量分析技术对新生儿啮白质损伤诊断的意义。方法通过颅脑超声及应用医学图像分析软件，对121例不同胎龄新生儿啮白质进行灰度值测定，并以白质回声是否在1个月内恢复正常将白质损伤分为轻度和重度，研究不同程度白质损伤的灰度值特点，并比较早期灰度值与后期神经发育的关系。结果新生儿脑白质轻度损伤、重度损伤、对照组之间，早期白质灰度值差异有统计学意义（P〈0.01）；随灰度值的增加，白质重度损伤的比率增加（P〈0.05）；早期白质灰度值〉130者3-6个月时出现神经发育异常（主要是肌张力和适应性异常）的比率显著增加（P〈0.05）。结论超声灰度定量分析对新生儿脑白质损伤的诊断有重要意义，有助于判断预后和指导临床早期治疗。     

新生儿早期尿七项生化指标的变化及正常范围

新生儿早期尿液检查是判断某些疾病的重要方法之一,本义观察了51例男性新生儿早期尿液七项生化指标的变化及正常范围,为临床工作提供参考。对象及方法一、对象:于1986年9月～12月选用我院产婴室母孕期健康,无宫内窘迫,分娩前     

The infant with prolonged jaundice: investigation and management

Jaundice for more than 14 days in the newborn is pathological and requires investigation. Minimum investigations include serum total and conjugated bilirubin. Conjugated hyperbilirubinaemia, dark urine and pale stools are pathognomic of the neonatal hepatitis syndrome which should be investigated urgently. The neonatal hepatitis syndrome has many causes and should be investigated by a structured protocol. The most important differential diagnosis is biliary atresia and affected infants should have a Kasai portoenterostomy carried out by an experienced surgeon, ideally before 60 days of age.Genetic causes of the neonatal hepatitis syndrome are increasingly recognized and early diagnosis facilitates genetic advice and, in some situations, specific treatment.The management of cholestasis is largely supportive, consisting of aggressive nutritional support with particular attention to fat-soluble vitamin status. The use of ursodeoxycholic acid is associated with improvement in biochemical measures of cholestasis and may improve the natural history of cholestasis in some circumstances.Outcome is dependent on aetiology. In idiopatic neonatal hepatitis, more than 90 make a complete biochemical and clinical recovery.     

先天性遗传代谢病的早期诊断

目的提高儿科医生对新生儿期遗传代谢病的认识，做到早期诊断、早期治疗。方法自2003年9月至2004年9月，根据临床表现确定18名遗传代谢病高危患儿，用“滤纸片代”将采集的尿标本外寄进行气相色谱．质谱(GC／MS)分析，筛查遗传代谢病。结果18例高危儿中确诊为遗传代谢病5例，分别为戊二酸尿症Ⅱ型1例(46h，男)，鸟氨酸氨甲酰转移酶缺陷1例(66h，男)，枫糖尿病1例(8d，男)，甲基丙二酸血症1例(13d，男)，丙酸血症1例(21d，女)，并对其临床特点进行归纳总结。结论掌握新生儿遗传代谢病临床特点，对高危儿早期进行尿GC／MS分析，可以早期诊断遗传代谢病，有利于优生优育。     

Congenital metabolic diseases as a cause of acute illnesses in the neonatal period

Inborn errors of metabolism occurring in the neonatal period both comprise diseases with clinical onset immediately after birth and diseases with clinical onset after a symptom free interval. Organ damage caused by inherited metabolic diseases can occur already in utero or--depending on oral food intake--during the first postnatal days. Unselective screening methods are applied in neonatal mass screening programs for the early detection of metabolic diseases. In cases of unspecific clinical symptoms selective screening procedures may provide an effective diagnostic tool. If a patient with suspected metabolic disease dies, body fluids and organ biopsies should be preserved for further investigations. The establishment of a genotypspecific (enzyme) diagnosis needs time and cost consuming biochemical procedures. It is a prior condition for prenatal diagnosis in further pregnancies.     

Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy

BACKGROUND: Inborn errors of bile acid synthesis are rare but potentially treatable causes of neonatal cholestasis. We here present a cholestatic infant with an ongoing cytomegalovirus infection who despite intensive treatment died of severe liver disease at 4 months of age. METHODS: The urinary steroids were investigated by electrospray mass spectrometry and gas chromatography mass spectrometry. Oxysterols in plasma were analysed by isotope dilution mass spectrometry. Mutations in the sterol 27-hydroxylase gene were detected by PCR. RESULTS: Glucuronidated bile alcohols, which are known to be excreted by patients with cerebrotendinous xanthomatosis (CTX) were detected in the urine. Analysis of plasma revealed markedly reduced levels of 27-hydroxycholesterol. Mutation analysis showed the presence of a stop codon in exon 7, confirming the diagnosis of CTX, a rare disease not previously diagnosed in Sweden. CONCLUSIONS: Fetal and neonatal deaths among siblings of patients with CTX have been reported previously and the present case supports the contention that reduced activity of the sterol 27-hydroxylase may predispose to the development of neonatal cholestasis. The associated viral infection may have further precipitated the liver disease. Since CTX, like other inborn errors of bile acid synthesis may be treated with bile acids an early diagnosis is essential. Thus, the analysis of urine by electrospray mass spectrometry is highly recommended in the investigation of patients with neonatal cholestasis.     

新生儿肺炎191例诊治分析

目的 观察新生儿肺炎临床的早期特征,探讨早期诊断和治疗.方法 对2006年1月～2007年2月住院的191例新生儿肺炎临床资料进行回顾分析.结果 191例中症状典型72例,占37.7%,不典型患儿119例,占62.3%.动态观察中有肺部哕音72例,占37.7%,胸片提示肺炎35例,占18.3%,发热者19例,占9.9%,咳嗽者例104,占54.5%,气促23例,占12.0%,转院15例,占7.8%.无死亡.结论 新生儿肺炎早期症状中咳嗽对诊断有重要参考价值,是新生儿肺炎的特点.改善新生儿肺炎的预后关键是早期诊断和治疗.     

Disorders of kidney function and acute kidney failure in newborn infants

Compromised kidney function in the perinatal period has been increasingly recognized during recent years, and acute renal failure is a frequent clinical situation in neonatal intensive care units. Renal underperfusion due to various prerenal conditions is assumed to be the most common cause of renal failure in neonates. With rapid restoration of renal blood flow, prerenal failure is completely reversible in the early course of the disease. If adequate treatment is delayed, however, structural damage to the kidneys by prolonged ischemia will ensue leading to a poor prognostic outcome. This review, therefore, mainly focuses on early diagnosis of disturbed neonatal kidney function and prophylactic therapeutical aspects which may be of particular benefit for critically ill newborns at high risk for developing acute renal failure.     

Protocolo de seguimiento de pacientes con fibrosis quística diagnosticados por cribado neonatal

Newborn screening (NBS) for cystic fibrosis (CF) is well-established in many countries and provides the opportunity for an early diagnosis and treatment before the development of irreversible structural lung damage.In 1999, Catalonia, Castilla-León, and the Balearic Islands started the NBS programme for CF. In the last 10 years its implementation rapidly spread and all the autonomies offer the NBS programme for CF since 2015. There are many different strategies across Spain. It is believed that it is very opportune to have an updated and consensual guide for the diagnosis, follow-up, and treatment of patients diagnosed by neonatal screening.     

新生儿、小婴儿化脓性脑膜炎73例

目的探讨新生儿、小婴儿化脓性脑膜炎（化脑）的临床表现、转归及早期识别方法。方法对73例确诊为化脑的3个月龄以下婴儿进行回顾性分析。按照发病年龄分为新生儿、小婴儿组,对二组临床症状、惊厥发作类型、并感染情况、病原学检测结果、头颅影像学检查情况、并发症、感染项目检测结果及临床转归进行比较。结果新生儿、小婴儿化脑均以体温改变、精神反应异常、纳差、惊厥为主要表现,惊厥发作类型中新生儿组微小发作较婴儿组显著增多（P〈0.01）,婴儿组强直和阵挛型发作较新生儿显著增多（Pa〈0.01）;新生儿组并败血症者较婴儿组显著增多（P〈0.01）;小婴儿化脑并发症发生率较新生儿显著增高（P〈0.01）;婴儿组发生硬膜下积液者较新生儿组显著增多（P〈0.01）。二组预后不良患儿就诊时间较痊愈患儿就诊时间晚,有显著性差异（Pa〈0.01）。结论新生儿、小婴儿化脑危害严重,化脑的早期识别依赖于临床观察,及时脑脊液检查。婴儿易发生硬膜下积液。     

Biliary atresia — The current management

Despite extensive research, controversies still exist regarding the etiology, pathology and management of biliary atresia. It is now thought to be a progressive panductal inflammatory obliterative process and not a developmental anomaly. The histologic changes are indistinguishable from neonatal hepatitis but some changes have prognostic significance. The clinical presentation is that of infantile obstructive cholangiopathy-waxing and waning icterus, clay coloured stools and high coloured urine from early neonatal period. The diagnosis is suggested by the absence of intestinal excretion on HIDA scan and confirmed on operative cholangiogram. Of utmost importance towards the final prognosis is early detection, prompt confirmation and surgical treatment before 2 months of age. Even with early treatment the result of bilioenteric drainage procedures have been discouraging in the long term. Portoenterostomy (PE) done in older children has been largely unsuccessful all over the world. The poor results of PE prompted the search for alternative treatment and liver transplantation (LT) has emerged as a viable treatment option both as a primary procedure and after failed PE. Although the technical know-how and infrastructure are available, LT in children has still not been done in India because of various economic and social constraints. It is hoped that all physicians and surgeons dealing with such patients would also consider this treatment modality.     

新生儿缺氧缺血性脑病的MRI研究进展

新生儿缺氧缺血性脑病(hypoxia ischemic encephalopathy,HIE)是指由围生期缺氧窒息导致的脑缺氧缺血性损伤.随着MRI技术的不断发展,MRI不仅能反映新生儿HIE的解剖、病理改变,而且能够反映其早期分子水平和代谢水平的变化,进行HIE病变性质与程度评价,并且无放射性损害,是HIE理想的影像检查方法.该文就近年来MRI在HIE诊断、判断预后等方面应用的研究进展作一综述.