小儿肾脏疾病与脂质代谢紊乱

冠心病、动脉粥样硬化起源于儿童青少年时期,脂质代谢紊乱是动脉粥样硬化首要的独立危险因素.肾脏疾病常伴血脂异常,且脂质异常能引起或加重肾损伤,是肾小球病变进展的重要危险因素之一.现就小儿肾脏疾病的脂质代谢紊乱、高脂血症对肾小球的损伤及与慢性肾脏疾病的关系、小儿肾脏疾病脂质紊乱的防治作一综述.     

儿童肾功能衰竭临床与病理分析

目的　探讨儿童肾功能衰竭的病因、临床和病理特点。方法　回顾分析 1996年 1月至 2 0 0 2年 6月诊治的 2 1例儿童肾功能衰竭病历资料。结果　①急性肾功能衰竭 12例 ,其中肾小球疾病引起者 8例 ,肾外因素所致者 4例 ;肾活检 6例 ,呈多种病理改变 ,伴不同程度细胞新月体形成。选择利尿、血液透析、甲基泼尼松龙冲击等治疗 ,10例肾功能有不同程度恢复 ,2例死亡。②慢性肾功能衰竭 9例 ,其中先天性肾脏疾病所致 2例 ,肾小球疾病所致 7例 ;肾活检 3例 ,病理呈系膜增生性肾小球肾炎、膜增殖性肾小球肾炎伴肾小球硬化或增生硬化。预后较差。结论　①急性肾功能衰竭治疗关键在于早期明确病因 ,应采用肾活检明确病理类型以指导治疗。②慢性肾功能衰竭缺乏特异性临床表现 ,易漏诊和误诊 ,应定期进行尿液常规检查 ,对肾脏疾病要进行有效治疗 ,防止慢性肾功能衰竭发生。     

儿童肾脏疾病合并胡桃夹现象及其诊治要点探讨

目的探讨儿童肾脏疾病与胡桃夹现象的伴随情况及诊断治疗要点。方法回顾分析2010年10月至2012年4月在苏州大学附属儿童医院住院治疗的肾脏疾病伴胡桃夹现象患儿22例临床资料,分析其诊断及治疗情况。结果 22例合并胡桃夹现象的肾脏疾病中,薄基底膜病1例、Ig M肾病1例、肾病综合征3例、紫癜性肾炎8例、感染后肾炎9例。其中5例临床症状由左肾静脉受压和肾脏疾病共同引起,在临床诊断及治疗中造成一定干扰,其余17例尿检异常单纯由肾脏疾病引起。结论薄基底膜病及Ig M肾病合并胡桃夹现象如诊断有困难时,应尽早行肾脏活检助诊。治疗肾脏疾病时如尿检出现均匀型红细胞也须排除胡桃夹现象的存在。肾病综合征及紫癜性肾炎合并胡桃夹现象如未进行多次尿检排查易误诊误治。     

儿童肾脏疾病与基因检测的研究进展

随着基因检测手段的发展和进步,肾脏疾病的基因检测已成为肾脏疾病诊断及预后评估的一种重要手段.儿童肾脏疾病的发病与特定基因的异常有着密切联系.全面认识这些基因,为基因诊断、遗传咨询、产前诊断、疾病预后评估以及指导临床治疗奠定了基础.该文对近年来研究的一些热点基因与肾脏的关系以及这些基因突变导致肾脏疾病的有关研究进行综述.     

肥胖相关性肾病的诊断

随着经济的快速发展及人们生活方式的改变,儿童及成人肥胖症发病率逐年上升,肥胖相关性肾病(ORG)日趋增多。ORG诊断首先要具备肥胖体征,但应注意国际、国内诊断成人肥胖的体质量指数(BMI)标准不同,儿童青少年更应根据不同年龄、性别的BMI分类标准作出判断。其次肾脏病理为肥胖相关的局灶节段性肾小球硬化伴肾小球肥大;或单纯肥胖相关肾小球肥大。结合出现蛋白尿伴或不伴镜下血尿等肾脏受累表现,除外糖尿病肾病、高血压性肾病、先天性肾发育不良等疾病可作出诊断。     

儿童肾脏异常声像图551例分析

儿童肾脏异常声像图５５１例分析武汉儿童医院（４３００１６）郑名芳，熊嗣玉切面超声显像在泌尿系疾病中的诊断作用日益引起重视．本文回顾分析５５１例肾脏异常声像图与临床的关系，进一步阐述超声诊断在儿童肾脏疾患中的应用价值．１资料及方法本院１９８８年１月至１...     

小儿慢性肾功能不全病因分析

为了解目前儿童慢性肾功能不全的病因构成特点，以指导早期发现儿童隐匿性肾脏疾病。回顾性分析1989年1月至2001年12月住院的37例慢性肾功能不全患儿，其中肾小球疾病16例(43．24％)，先天性解剖异常16例(43．24％)，遗传性肾病2例(5．41％)，间质性肾炎2例(5．41％)，肾母细胞瘤1例(2．70％)，与10年前的统计资料相比，肾小球疾病比例减少，先天性和遗传性肾病比例增多；与国外80年代后统计资料一致。提示目前先天性泌尿系统畸形及遗传性肾病是儿童慢性肾功能不全的主要原因。减少儿童慢性肾功能不全发生的重点在于早期发现儿童隐匿性肾脏疾病。     

指甲髌骨综合征研究进展

指甲髌骨综合征是一种以指甲和髌骨发育异常或缺如为特征的综合征,由LMX1B基因突变导致的一种常染色体显性遗传性疾病,临床主要表现为指甲发育不全、髌骨缺失或发育不良、桡骨头和(或)肱骨小头发育不全(伴或不伴脱位)和髂骨角四联症,部分伴有眼部异常及肾脏受累.目前尚无特异性治疗.     

儿童肾功能评估方法的比较

儿童慢性肾功能不全的严重后果不仅是进展为终末期肾衰竭需要肾脏替代治疗,而且也明显增加心血管疾病、代谢综合征等并发症的危险性,因此对慢性肾功能不全的早期诊断尤为重要.临床医师常通过血肌酐、尿素氮等传统监测指标评估患儿肾功能,但传统的评估指标具有一定滞后性,目前国际上常用胱抑素C、血尿β2微球蛋白等指标评价儿童肾功能.由于不同性别、不同年龄儿童肾小球滤过率不是恒定值,用化验指标很难准确估计儿童肾功能,因此需要与肾小球滤过率评估公式相结合,才能准确评估肾脏损害程度,并为防止肾功能进展到终末期提供干预治疗最好的时机.该文对几种常用的儿童肾功能评估方法进行概述,以寻求出适用于我国儿童的肾功能评估方法及标准.     

肾脏疾病合并头孢曲松相关假性胆结石患儿的临床分析

目的 探讨肾脏疾病患儿合并头孢曲松相关假性胆结石的临床特点.方法 回顾性分析3例合并头孢曲松相关假性胆结石的肾脏疾病患儿临床资料.结果 病例1,男,11岁,诊断"肾病综合征",因"胃肠炎"予头孢曲松2g/d[50 mg/(kg·d)]抗感染,3 d后发现胆囊内泥沙样沉积,伴纳差、恶心;停药16 d后胆囊结石消失.病例2,男,10岁,诊断"急性链球菌感染后肾小球肾炎、肾功能不全",因"胃肠炎"予头孢曲松1.5 g/d[30 mg/(kg·d)],疗程6 d时发现胆囊结石,伴恶心、呕吐和腹痛,Murphy's征阳性;停药18 d后胆囊结石消失.病例3,男,12岁,诊断"肾病综合征",因"胃肠炎?"给予头孢曲松2g/d[40 mg/(kg·d)]联合甲硝唑抗感染、疗程2周,感染控制,但有中上腹压痛,停药3 d后发现胆囊结石;停药2个月后复查结石回声消失.结论 上述3例患儿出现胆囊结石时头孢曲松治疗剂量较低、结石出现早、临床表现相对重,可能与肾脏疾病患儿同时存在血液浓缩、高凝状态、肾功能不全或补充钙剂等高危因素有关.     

Bibliometric data: a disaster for many non-American biomedical journals

Bibliometric data published by the Institute of Scientific Information in Philadelphia (ISI), and which was previously discussed in Acta Paediatrica , has increasingly been used despite all the relevant and severe criticism that has been raised against this method of evaluating individual research results and grading scientific journals. It is obvious that the present trend regarding the use of bibliometric data as a basis for priorities and funding of research and for the promotion of individual scientists favours American-oriented research projects at the expense of those that are based on concepts of predominantly European relevance.

Conclusion: For the future of non-American research, it is important that no single super-power, i.e. the USA, should dominate scientific priorities. The condition for efficient European competition is that European Centres with high levels of competence for creative research and training of scientists from all over the world are established. In addition, it is important that the results of European research are published in prestigious European journals, as was the situation before World War II.     

The importance of different immunosuppressive regimens in the development of posttransplant diabetes mellitus

Solid-organ transplantation is the optimal long-term treatment for most patients with end-stage organ failure. After solid-organ transplantation, short-term graft survival significantly improved (1). However, due to chronic allograft nephropathy and death with functioning graft, long-term survival has not prolonged remarkably (2). Posttransplant immunosuppressive medications consist of one of the calcineurin inhibitors in combination with mycophenolate mofetil (MMF) or azathioprine (Aza) and steroids. All of them have different adverse effects, among which posttransplant diabetes mellitus (PTDM) is an independent risk factor for cardiovascular (CV) events and infections causing the death of many transplant patients and it may directly contribute to graft failure (3). According to the criteria of the American Diabetes Association (4), diabetes mellitus (DM) is defined by symptoms of diabetes (polyuria and polydipsia and weight loss) plus casual plasma glucose concentration ≥ 11.1 mmol/L or fasting plasma glucose (FPG) ≥ 7.0 mmol/L or 2-h plasma glucose level ≥ 11.1 mmol/L following oral glucose tolerance test (OGTT). This metabolic disorder occurring as a complication of organ transplantation has been recognized for many years. PTDM, which is a combination of decreased insulin secretion and increased insulin resistance, develops in 4.9/15.9% of liver transplant patients, in 4.7/11.5% of kidney recipients, and in 15/17.5% of heart and lung transplants [cyclosporine A (CyA)/tacrolimus (Tac)-based regimen, respectively] (5). Risk factors of PTDM can be divided into non-modifiable and modifiable ones (6), among which the most prominent is the immunosuppressive therapy being responsible for 74% of PTDM development (7). Emphasizing the importance of the PTDM, numerous studies have determined the long-term outcome. On the basis of these studies, graft and patient survival is tendentiously (8) or significantly (9, 10) decreased for those developing PTDM.     

alpha -SMOOTH MUSCLE ACTIN DISTRIBUTION IN THE PULMONARY VASCULATURE COMPARING HYPOPLASTIC AND NORMAL FETAL LUNGS

We investigated the intra-acinar pulmonary vascular muscularization in the developing human fetal lung between the 17th and 24th gestational weeks, that is, during the canalicular phase of lung development. Fifteen hypoplastic and 25 normal developed lungs were included in this study using monoclonal alpha -smooth muscle (sm) actin antibodies for smooth muscle detection. Computer-aided image analysis was performed for morphometrical measurements and statistical evaluation. Alphasm-actin-immunoreactive intra-acinar vessels down to a luminal diameter of less than 10 mu m were detected in hypoplastic as well as in normally developed lungs. Crucial differences presented as follows: significantly higher density of intra-acinar vessels, especially due to alpha -sm-actin-negative vessels less than 30 mu m in luminal diameter, in the control group; significantly higher alpha -sm-actin immunoreactivity per section unit as well as per vessel in the hypoplastic lung group. As suggested by others, alpha-sm-actin-positive cells of the intra-acinar vessel wall in the developing human lung were demonstrated to be smooth muscle cells, their immediate precursors, and pericytes. We conclude that the increased alpha -sm-actin immunoreactivity represents muscularization of the vessel wall in functional terms and may be regarded as one structural cause among others for the establishment of persistent fetal circulation in hypoplastic lungs.     

Whole-body mineral measurements in Swedish adolescents at 17 years compared to 15 years of age

Aim: To provide reference data for bone mineral variables in 15- and 17-y-old adolescents and to analyse the relationships between these variables and measures of bone and body size, gender, puberty, growth, various lifestyle and environmental factors and socioeconomic background.

Methods: In the same 321 randomly selected adolescents (147 boys and 174 girls) living in two different regions of Sweden, the total bone mineral content (TBMC), bone area (BA) and total bone mineral density (TBMD) were assessed by dual-energy X-ray absorptiometry at ages 15 and 17 y. The effects of bone and body size, gender, growth, sexual maturity, physical activity, region of domicile, social conditions, food habits, smoking and alcohol intake on TBMC and TBMD were examined in multivariate analyses.

Results: In the 15-y-old adolescents, BA, height, gender, physical activity, maturity and weight explained 91% and 48%, of the variance in TBMC and TBMD, respectively. In similar analyses in the 17-y-olds, the corresponding figures were 92% and 62%, respectively, when BA, height, growth, physical activity, gender and region emerged as significant in the model. In all these analyses, BA explained most of the variance in TBMC and TBMD. No significant reduction of variance was found when different measures of social conditions, smoking, food habits, alcohol or dietary intakes of energy, calcium or vitamin D were included in the models. The reason why region of domicile had a significant impact on TBMC in the 17-y-olds is not known. The fact that the normal fluoride concentration in drinking water (1.1 mg/L) is 10 times higher in the region where TBMC was higher than in the other region is an interesting observation.

Conclusion: Almost 90% of the variance in TBMC and 50% of that in TBMD was explained by measures of bone and body size and only a few percent by gender, physical activity, Tanner stage, growth and region of domicile.     

VARICELLA ZOSTER VIRUS INFECTIONS IN THE PEDIATRIC STEM CELL TRANSPLANT PATIENT

Varicella zoster virus (VZV), a member of the human herpesvirus family, causes the clinical syndromes of chickenpox during primary infection and shingles on later reactivation. In immunocompromised patients, including those undergoing hematopoietic stem cell transplantation, VZV can produce life-threatening infections. The most serious forms of VZV infection involve hematogenous dissemination of the virus to vital organs, such as the lung, brain, and liver. Advances in immunoprophylaxis, antiviral chemotherapy, and vaccine development have provided effective tools to limit the morbidity and mortality previously associated with VZV infection in hematopoietic stem cell transplant patients. In this review, we discuss virologic aspects of VZV, pathogenesis of VZV infection, methods of viral diagnosis, clinical manifestations of infection in both normal and immunocompromised patients, and available preventative and therapeutic measures.     

The potential role of rapamycin in pediatric transplantation as observed from adult studies

Although pediatric patient and renal graft survival rates have shown marked improvements during the past decade, the persistent toxicities of immunosuppressive drugs and chronic allograft attrition remain major obstacles in transplant therapy. Results in adult patients suggest that complete steroid withdrawal is possible in the majority of recipients under treatment with a cyclosporin A-rapamycin (CsA RAPA) regimen. Furthermore, preliminary studies suggest that a marked reduction in the dose of CsA may be possible under the umbrella of RAPA coverage. The gain in immunosuppressive efficacy afforded by RAPA has not only been obtained without an increased morbidity owing to infectious or neoplastic causes, but also with the potential for reducing the incidence and/or progression of chronic rejection.     

GENETICS OF CARNEY COMPLEX AND RELATED FAMILIAL LENTIGINOSES, AND OTHER MULTIPLE TUMOR SYNDROMES

Carney complex is a multiple endocrine neoplasia (MEN) syndrome that affects the adrenal cortex, the pituitary and thyroid glands, and the gonads. The complex is also associated with skin and mucosa pigmentation abnormalities and myxoid and other neoplasms of mesenchymal and neural crest origin. Thus, this syndrome also belongs to another group of genetic disorders, the lentiginoses (or lentigenoses), which include the Peutz-Jeghers, LEOPARD, arterial dissections and lentiginosis, and Laugier-Hunziker syndromes, Cowden disease and Ruvalcaba-Myhre-Smith (Bannayan-Zonana) syndrome and the centrofacial, benign patterned and segmental lentiginoses, all of which can be associated with a variety of developmental defects. The inheritance of Carney complex, just like that of the other MENs and the lentiginoses, is autosomal dominant. Genetic loci or genes have been identified for Carney complex, Peutz-Jeghers and Ruvalcaba-Myhre-Smith syndromes, but not for other lentiginoses. Elucidation of the molecular defects responsible for these disorders is expected to shed light on aspects of early neural crest differentiation, the regulation of pigmentation, the development of autonomous endocrine function, and endocrine and nonendocrine tumorigenesis.     

All you ever wanted to know about infant formulas (but were afraid to ask)

The World Health organisation recommends breast feeding infants for the first six months of life. When this breast feeding does not occur either through parental choice or medical need, infant formulas will be required. There is a bewildering array of formulas on the UK market for many different requirements. When faced with an unsettled infant many parents (and health care professionals) will experiment with the infant formula available and often attend the paediatric clinic looking for help and advice. It is therefore essential that paediatricians understand what milks are available and what the key differences between different products are. This review attempts to provide a simple guide through many of the formulations currently available in the UK; and offers advice for the dietary management of the child with extra calorie requirements, infants with cow's milk protein allergy, gastro oesophageal reflux disease, apparent unresolved hunger and infantile colic. Whatever the underlying condition, there is likely to be an infant formula that is suitable in this generation of ever expanding formulations.     

Génétique des schizophrénies : mise en perspective des schizophrénies à début précoce et autres pathologies du développement

Schizophrenia (SCZ) is a severe brain disorder characterized by hallucinations, delusions, flat and/or inappropriate affect and cognitive impairment. The lifetime risk is about 0.5% with heritability of 65–85%. The prevalence of early-onset schizophrenia (defined here as before 15 years of age) has not been well studied, but is likely to be 5–10% of all cases. The rarity of early-onset SCZ has made it difficult to study. We focus on genetic studies of adults with schizophrenia, highlighting results for early-onset schizophrenia where available. Prior to the past 5 years, studies failed to find replicable association or linkage between SCZ and specific genes when appropriate statistical corrections for multiple testing were used. Many false positive results were probably reported using the candidate gene approach. Recently, the development of single nucleotide polymorphism (SNP) “chips” has permitted large genome-wide association study (GWAS) analyses that suggest that across all age groups, a proportion of genetic risk can be attributed to a large number of common SNP, each with a very small effect on risk (odds ratios of 1.1 or less). The greatest known genetic effect is conferred by the 1.5–3 Mb 22q.11.2 deletions, which occurs in ∼ 1/4000–1/6000 births with SCZ developing in 20–30% of carriers. Large SNP and aCGH microarray studies have now identified associations between SCZ and other rare, large copy number variations (CNV, insertions and deletions) with high odds ratios (5–10), including deletions of 1q21, 2p16.3 (neurexin-1 gene), 3q29 and 15q13.3, and duplications of 16p11.2. Some of these CNV are also associated with autism or other developmental disorders as well as epilepsy or intellectual deficiency, suggesting some overlap in the mechanisms that contribute to risks of these disorders. Based on preliminary data from larger-scale analyses in progress, approximately 1–2% of cases carry a CNV that has been clearly associated with SCZ (ORs 4–12). Whole exome and genome sequencing studies of large adult samples will be the next steps to identify rarer SCZ-associated mutations, including point mutations and smaller as well as rarer CNV. Genetic findings are beginning to contribute to an understanding of biological mechanisms of SCZ risk and may lead to new approaches to treatment.     

INACTIVATION OF PULMONARY SURFACTANT AND THE TREATMENT OF ACUTE LUNG INJURIES

Inactivation of pulmonary surfactant may be important in acute lung injury and acute respiratory distress syndrome. Treatment of surfactant dysfunction by instilling exogenous surfactants may improve gas exchange and pulmonary mechanics. Surfactants used for treatment vary in their attributes and effects, so when various surfactants are considered for therapy, resistance to inactivation is an important consideration. Animal models of acute lung injury exist in which the relative merits of surfactants can be compared. We hypothesize that the surfactants most resistant to inactivation in vitro will be the ones that are most effective in treatment of animal models of acute lung injury. Surfactants with higher concentrations of surfactant proteins (specifically A, B, and C) are more resistant to inactivation. Nonionic polymers mimic surfactant proteins in preventing surfactant inactivation under some conditions. Adding nonionic polymers to surfactant containing minimal amounts of SP-B and SP-C markedly improves lung function of animals with lung injury. Making surfactants more "inactivation-proof" may improve surfactant therapy of acute lung injuries.