Abstract：
:This review deals with podocyte proteins that play a significant role in the structure and function of the glomerular filter. Genetic linkage studies has identified several genes involved in the development of nephrotic syndrome and contributed to the understanding of the pathophysiology of glomerular proteinuria and/or focal segmental glomerulosclerosis. Here, we describe already well-characterized genetic diseases due to mutations in nephrin, podocin, CD2AP, alpha-actinin-4, WT1, and laminin beta2 chain, as well as more recently identified genetic abnormalities in TRPC6, phospholipase C epsilon, and the proteins encoded by the mitochondrial genome. In addition, the role of the proteins which have shown to be important for the structure and functions by gene knockout studies in mice, are also discussed. Furthermore, some rare syndromes with glomerular involvement, in which molecular defects have been recently identified, are briefly described. In summary, this review updates the current knowledge of genetic causes of congenital and childhood nephrotic syndrome and provides new insights into mechanisms of glomerular dysfunction.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Löwik MM,Groenen PJ,Levtchenko EN,Monnens LA,van den Heuvel LPdoi
10.1007/s00431-009-1017-xsubject
Has Abstractpub_date
2009-11-01 00:00:00pages
1291-304issue
11eissn
0340-6199issn
1432-1076journal_volume
168pub_type
杂志文章,评审abstract：:Twenty-eight children whose parents reported sleep apnoea were investigated. In 15 infants apnoeic periods during sleep could be confirmed during clinical observation. Ventilatory responses to CO2 were measured in all infants, in 23 during sleep in 5 only when awake. A very wide range of CO2 sensitivities was found. I...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00496030
更新日期：1986-04-01 00:00:00
abstract：:The burden of community-acquired pneumonia (CAP) in high-income countries is still significant. The introduction of pneumococcal conjugate vaccines (PCV) has reduced the overall need for hospitalization for CAP. However, it is not clear whether children with underlying disease also have benefitted from the PCV immuniz...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-016-2843-2
更新日期：2017-03-01 00:00:00
abstract：UNLABELLED:During the last decade, much concern has been expressed about online pro-eating disorder communities (e.g., pro-anorexia websites and blogs) which encourage their users to engage in disordered eating behavior. The aim of the current paper is to reemphasize the importance of pro-eating disorder communities in...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-015-2487-7
更新日期：2015-04-01 00:00:00
abstract：:The four-principles approach of Beauchamp and Childress has had a huge influence in many areas of medicine, including Pediatrics. There is a risk that such universalist principles fail to take into account cultural differences. This is an important point but there is a need to see the more nuanced aspects of the appro...
journal_title：European journal of pediatrics
pub_type： 评论,社论
doi：10.1007/s00431-009-0971-7
更新日期：2009-11-01 00:00:00
abstract：UNLABELLED:We present a 9-month-old boy with megaloblastic anaemia, neutropenia and hypogammaglobulinaemia due to vitamin B12 deficiency. The deficiency was secondary to prolonged exclusive breastfeeding with inadequate nutritional amounts of vitamin B12 from the mother. There were no clinical or biological signs of ma...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1577-4
更新日期：2012-01-01 00:00:00
abstract：UNLABELLED:Sleep duration has been identified as risk factor for obesity already in children. Besides investigating the role of fat mass (FM), this study addressed the question whether endocrine mechanisms act as intermediates in the association between sleep duration and overweight/obesity. Within the framework of the...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-011-1670-8
更新日期：2012-07-01 00:00:00
abstract：:We describe the natural history of the RTSII phenotype in a 7-year-old boy who developed intrauterine and postnatal growth retardation, failure to thrive and persisting diarrhoea. The growth hormone stimulation test identified an isolated growth hormone deficiency. Since infancy, the patient manifested skin lesions ch...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-007-0447-6
更新日期：2008-02-01 00:00:00
abstract：:Cardiovascular abnormalities were evaluated in 64 children aged between 1 year 9 months and 25 years with mucopolysaccharidoses (MPS) and related disorders. A heart murmur was heard in 18 patients, but in only 6 was it characteristic for specific valvular lesions. Echocardiography was performed in 63 children. In one ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050872
更新日期：1998-07-01 00:00:00
abstract：:The effects of laryngoscopy and tracheal intubation on cerebral and systemic haemodynamics were studied in 30 children. The objective was to identify conditions in which the alterations of cerebral and systemic haemodynamics were minimal. The children were intubated after muscular relaxation and following 10 min of me...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01957527
更新日期：1993-11-01 00:00:00
abstract：UNLABELLED:Administration of human growth hormone (GH) has yielded conflicting results concerning its role on thyroid function in patients with Ullrich-Turner syndrome. Therefore, we investigated the course of thyroid hormone parameters and thyroxin binding globulin in relation to GH therapy, IGF-I and additional oxand...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/s004310050563
更新日期：1997-02-01 00:00:00
abstract：:We report here our experience in the long-term management of 28 patients with citrullinaemia, 13 patients with carbamoyl phosphate synthase deficiency and 15 patients with argininosuccinic aciduria. In addition, we report a national French survey of 119 patients with ornithine transcarbamylase (OTC) deficiency enzymat...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/pl00014323
更新日期：1999-12-01 00:00:00
abstract：:The fatty acid status of an unselected group of 84 Congolese children was determined by estimating the fatty acid composition of the plasma phospholipid (PL) and cholesterolester (CE) fractions using capillary gas chromatography. In comparison with North American and European children a wide range of values and low me...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00445928
更新日期：1988-11-01 00:00:00
abstract：:Blood pressure (BP) is variable in children and this could affect BP assessment, but the magnitude of within-visit BP variability (BPV) over consecutive measurements has never been investigated. This study aimed to determine the direction and magnitude of, and factors affecting, within-visit BPV in children and adoles...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-017-3049-y
更新日期：2018-02-01 00:00:00
abstract：:A 15-year-old girl was admitted with a high fever and progressive malaise, vomiting, anorexia and abdominal complaints. She previously had a sore throat and unilateral painful swollen lymph nodes in the neck. Laboratory investigation indicated a bacterial infection. Blood cultures were taken. There was infiltrate in t...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-007-0628-3
更新日期：2008-06-01 00:00:00
abstract：:We report a 28-day-old female infant with pertussis presenting as severe acute bronchiolitis with cyanosis. On admission, the patient's symptoms were similar to those of acute bronchiolitis. However, occasional apneic episodes with cyanosis and peripheral lymphocytosis suggested neonatal pertussis and prompted us to e...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0744-8
更新日期：2009-03-01 00:00:00
abstract：:Twenty patients with rheumatoid arthritis or Still's disease associated with growth failure were treated with human growth hormone, 7.5 to 17 U/m2 body surface per week. Five patients did not respond with better growth. In the remainder the mean growth rate increased from 1.9 cm/year (range: 0 to 3.3) to 6.2 cm/year (...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441894
更新日期：1979-01-18 00:00:00
abstract：:An apparently hitherto undescribed, severe skeletal syndrome is reported in 3 siblings (2 boys, 1 girl) in a family of Turkish-Arabian descent. Major manifestations include: hypoplasia of the pelvis, congenital dislocation of the hip, severe bowing of femora, aplasia or hypoplasia of fibulae, absence or coalescence of...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441580
更新日期：1980-03-01 00:00:00
abstract：LARYNGOSCOPE BURNS IN NEONATAL INTUBATION:Following burns during neonatal intubation, we mounted an in vitro study of laryngoscopes to determine the temperatures reached during clinical use. The temperature of 10 different bulb laryngoscopes heads and two fibre optic heads were measured with a thermocouple, once opened...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-019-03381-0
更新日期：2019-07-01 00:00:00
abstract：:Serum IgE concentration was measured on the 5th day of life in 943 infants. All infants were included in a 3 month follow-up study. The frequency of cow's milk allergy was studied according to either family history, IgE level, or both. Feeding (mother's milk or formula feeding) was taken into account. Manifestations s...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02429049
更新日期：1986-12-01 00:00:00
abstract：:In a prospective study elastase alpha 1-proteinase inhibitor (E alpha 1PI), polymorphonuclear (PMN) count, the immature to total neutrophil count ratio (I/T ratio), and C-reactive protein (CRP) were analysed in 74 patients (76 cases) with neonatal septicaemia at the time of initial clinical symptoms. At that early sta...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02113257
更新日期：1992-05-01 00:00:00
abstract：:Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by mutations of one of the subunits of phagocyte reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase leading to decreased or complete absence of neutrophil oxidative burst. We report the clinical and laboratory findings in tw...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-006-0211-3
更新日期：2007-02-01 00:00:00
abstract：:The renal function of 12 patients with non vitamin B12 responsive methylmalonic acidaemia has been investigated. Eight patients had reduced glomerular filtration rates, but the plasma creatinine concentration was only raised in those with values of less than 40 ml/min per 1.73 m2 surface area. The reduction in glomeru...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00444131
更新日期：1989-01-01 00:00:00
abstract：:Effective management of pain remains an important indicator of the quality of care provided to neonates. Since the review of McIntosh in this journal over a decade ago, an extensive number of papers on assessment, prevention, and treatment of pain have been reported. In addition, preclinical insights into neurodevelop...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-009-0932-1
更新日期：2009-07-01 00:00:00
abstract：:To evaluate the ambulatory management of ileo-colic intussusception in infants and children, a retrospective study over 3 years of 113 children treated for ileo-colic intussusception in a paediatric emergency department was undertaken with the aim of shortening the length of stay. A total of 113 children aged 10 days ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310051184
更新日期：1999-09-01 00:00:00
abstract：:When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth complications. In postnatal life this gene defect gives rise to X-linked recessive ichthyosis. In a series of 25 patients birth complications were reported in 9 cases. Of these boys, 4 displayed b...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00661898
更新日期：1983-03-01 00:00:00
abstract：:The aim of this study was to assess demographic data, clinical presentation, metabolic features, and treatment in 76 children with urolithiasis presented from 2002 to 2011. Urolithiasis is responsible for 2.5/1,000 pediatric hospitalizations, with new cases diagnosed in 1.1/1,000 admissions. From the observed period, ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-013-2165-6
更新日期：2014-03-01 00:00:00
abstract：:Recombinant interleukin 2 (rIL2) was administered to a patient with Wiskott-Aldrich syndrome for the treatment of an intractable facial herpetiform lesion. This treatment appeared to be effective in suppressing the virus activity. At the same time, a transient improvement of the chronic eczematoid dermatitis was obser...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01957224
更新日期：1993-12-01 00:00:00
abstract：:Presentation of cystic fibrosis (CF) with an acrodermatitis enteropathica-like skin rash, anemia, and hypoproteinemia without pulmonary disease is rarely reported before. We describe an 11-month-old boy with rash and edema as the presenting signs of cystic fibrosis. The interesting additional finding in our patient wa...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1447-0
更新日期：2011-10-01 00:00:00
abstract：:Clinical pharmacists provide beneficial services to adult patients, though their benefits for paediatric hospital patients are less defined. Five databases were searched using the MeSH terms 'clinical pharmacist', 'paediatric/paediatric', 'hospital', and 'intervention' for studies with paediatric patients conducted in...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-018-3187-x
更新日期：2018-08-01 00:00:00
abstract：:Ethnic classification does not correlate well with skin tone. As there are no neonatal skin color scales, we aimed to create and validate one of our own. After creating the scale and briefly training our staff, we conducted a prospective, observational study to assess reproducibility and correlation of each scale colo...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03623-6
更新日期：2020-09-01 00:00:00
