以孤立性血尿为表现的薄基底膜肾病54例分析

目的探讨薄基底膜肾病(TBMN)的临床表现和病理特点。方法对54例临床表现为孤立性血尿、经肾活检证实的TBMN患儿进行分析。所有患儿行肾穿刺,分别进行光镜、免疫荧光和电镜观察及基底膜厚度测定。采用间接免疫荧光法检测皮肤基底膜(EBM)Ⅳ型胶原α1、α5和肾小球基底膜(GBM)Ⅳ型胶原α1、α3和α5链表达。结果所有病例肾小球基底膜弥漫性均匀性变薄,无基底膜分层、撕裂等改变,部分病例存在节段性足突消失。4段基底膜厚度分别为(170．7±45．0)nm、(175．6±47．9)nm、(181．8±36．3)nm和(170．0±32．9)nm。EBM和 GBMⅣ型胶原α链检测,发现异常2例。结论薄基底膜肾病主要表现为孤立性血尿,确诊有赖肾活检电镜基底膜厚度测定,须与Alport综合征鉴别。     

Differentiation of glomerular and non-glomerular hematuria in children by measurement of mean corpuscular volume of urinary red cells using a semi-automated cell counter

Urine samples from 110 children and adolescents with micro- or macrohematuria were compared using phase-contrast microscopy and a semi-automated cell counter to differentiate glomerular from non-glomerular hematuria. Glomerular hematuria, defined by clinical criteria from biopsy and standard chemical evaluation, was observed in 73 patients (group 1): non-glomerular hematuria was found in 37 patients (group 2). The latter group underwent urological operation and had normal urine before operation. Mean corpuscular erythrocyte volume (MCVU) and percent of dysmorphic erythrocytes were determinated. To exclude the influence of mean erythrocyte volume of blood erythrocytes (MCVB), MCVB was determined and additionally the quotient of MCVU/MCVB was calculated (MCVUB). The percentage of dysmorphic erythrocytes differed significantly between the two groups ((75 ± 13% in group 1 versus 38 ± 27% in group 2 (mean ± SD); p < 0.01), MCVU (34.0 ± 11.1 fl in group 1 versus 55.5 ± 16.3 fl in group 2; p < 0.01) and MCVUB (0.41 ± 0.14 in group 1 versus 0.67 ± 0.20 in group 2; p < 0.01). When glomerular hematuria was defined on the basis of more than 80% dysmorphic erythrocytes, the sensitivity of phase-contrast microscopy was 0.52, specificity versus 0.96 and efficiency 0.64. When glomerular hematuria was defined asn <50fl MCVU, sensitivity was 0.92, specificity 0.57 and efficiency 0.80 and as <0.06 MCVUB, sensitivity was 0.89, specificity 0.62 and efficiency 0.80. The correlation coefficient between MCVU and dysmorphic erythrocytes was -0.71 ( p < 0.01). The differentiation of glomerular and non-glomerular hematuria in children by determination of MCVU appears to be equivalent to and easier to perform than phase-contrast microscopy.     

A genetic and statistical study of the respiratory distress syndrome

The hospital records of 197 infants with the respiratory distress syndrome (RDS) were reviewed and the families of 111 of them subsequently contacted to obtain a family history. After correcting for bias of ascertainment, the incidence of RDS among the full sibs was found to be between 12 and 19% depending on whether the individuals diagnosed as possible RDS were counted as affected. Among the low birth weight (LBW, 2.5 kg) and/or preterm (37 weeks gestation) infants in the sibships, the incidence of RDS was 32–50%. Considering only sibs born after the probands yielded the empiric recurrence risk of 17–27% for all younger sibs and of 39–67% for LBW/preterm younger sibs. The risk for maternal half-sibs was of about the same magnitude as that for full sibs, while the risk for paternal half-sibs was minimal. Among the LBW/preterm first cousins of probands, only the infants of maternal aunts showed an RDS incidence clearly higher than that in the general population. We think these data suggest a genetically determined maternal factor predisposing the infants of certain mothers to RDS.Other significant findings include: 1) an excess of males among the probands but a normal sex ratio among the sibs of the probands; 2) a decrease in mean birth weight and mean length of gestation for not only the probands but also their sibs; 3) a decrease in the mean parental ages at the birth of the probands; 4) a relative dearth of first-born and an excess of second-born infants among the probands; 5) an increased incidence of stillbirths in the sibships; 6) an increased number of probands born by cesarean section; and 7) a twin concordance of 75%.Supported by DHEW/USPH Grants GM20130 and GM00398 from the National Institute of General Medical Science. Paper No. 1963 from the University of Wisconsin Genetics Laboratory.     

Surfactant and continuous positive airway pressure for the prevention of chronic lung disease: History,reality, and new challenges

The discovery of surfactant was one of the most significant research events to occur in the history of neonatology. Certainly, surfactant saved lives for premature infants who were otherwise considered non-viable. However, the prevention of chronic lung disease did not progress and it became clear that a significant portion of the help surfactant provides to the premature lung is counteracted by mechanical ventilation. A dilemma exists over the priorities in premature management to intubate and administer surfactant or not to intubate and support these infants non-invasively with the use of continuous positive airway pressure. A new hydrophilic surfactant preparation has been developed with the hope to enable the introduction of surfactant therapy without the need for tracheal intubation. Clinical trials on this product are currently in progress. This article provides the history and prospect of respiratory distress management in premature infants and evaluates the current evidence for non-invasive practices.     

Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease

Chronic, Infantile, Neurological, Cutaneous and Articular Syndrome (CINCA) or Neonatal/Infantile Onset Multisystem Inflammatory Disease (NOMID/IOMID) is a rare, multisystem inflammatory disease characterised by neonatal onset of urticarial symptoms, persistent rash, ocular inflammatory lesions, progressive articular and neurological involvement and associated with characteristic overgrowth of the ossification nucleus of the patella. The tissues involved are extensively infiltrated by inflammatory cells, mostly neutrophils. This paper describes the clinical features of three new cases as well as a study of activation markers in neutrophils and search for mutations of the CIAS1gene in these patients. Clinical records of three cases of CINCA are reported. For genetic analysis, exon 3 of the CIAS1gene was amplified and sequenced. Immunophenotype, oxidative burst and phagocytosis were analysed in neutrophils obtained from all the three CINCA patients as well as from eight juvenile idiopathic arthritis (JIA) patients and eight healthy controls. Functional assays in neutrophils were normal in all three patients with CINCA syndrome and did not differ from those of JIA patients and healthy controls. The surface density of CD10 was significantly higher on neutrophils from CINCA patients as compared to those of JIA and controls ( P <0.0005). In one subject a new missense mutation in the CIAS1gene was identified. Conclusion: the hyper expression of the activation antigen CD10/NEP in neutrophils from these three cases of CINCA, as compared to JIA patients and healthy controls, irrespective of the presence of mutations in CIAS1, could be a marker of the inflammatory disorder typical of some patients with CINCA syndrome.Abbreviations ANA antinuclear antibodies - CINCA chronic, infantile, neurological, cutaneous and articular - JIA juvenile idiopathic arthritis - MFI mean fluorescence intensity - PMNC polymorphonuclear cell