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1.
Bratisl Lek Listy ; 124(9): 682-684, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37635665

RESUMO

It is known that prematurity and low birth weight are associated with chronic kidney disease and hypertension. A positive correlation between kidney volume and birth weight was also described. In our ongoing observational study in 5-year-old children, we perceived highly abnormal kidney ultrasound and functions of a male patient born weighing 370 grams. It was his first nephrology examination since discharge from the hospital. We believe that thorough follow up and timely diagnosis of developing renal insufficiency may help us to initiate proper treatment in high-risk children (Tab. 1, Fig. 1, Ref. 7). Text in PDF www.elis.sk Keywords: prematurity; extremely low birth weight; chronic kidney disease; renal ultrasound; renal function.


Assuntos
Lactente Extremamente Prematuro , Rim , Nascimento Prematuro , Insuficiência Renal Crônica , Ultrassonografia , Humanos , Pré-Escolar , Rim/anormalidades , Rim/diagnóstico por imagem , Masculino , Insuficiência Renal Crônica/diagnóstico por imagem , Insuficiência Renal Crônica/prevenção & controle
2.
Neuro Endocrinol Lett ; 38(8): 544-548, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29504732

RESUMO

BACKGROUND: In a cooperative multi-center interventional study of 60 probands with prehypertension and normal BMIs were followed for 3 months. DESIGN: The intervention included the DASH diet for 3 months in 30 probands plus sodium limited intake using the low sodium salt Kardisal® (60% NaCl, 40% KCl) (group A) and the DASH diet for 3 months in 30 probands without Kardisal® (group B). RESULTS: In group A (n=26 probands evaluated) the systolic blood pressure (median) decreased significantly from 138 to 129 mmHg (p<0.001), while the diastolic blood pressure had a statistically non-significant decrease. In group B (n=25 probands evaluated) the SBP decreased significantly from 135 to 132 mmHg (p<0.001), and the DBP decreased significantly from 85 to 69 mmHg (p<0.001). CONCLUSION: Despite a relatively short period on the DASH diet, the intervention produced a significant decrease in the blood pressure of prehypertensive adolescents. The additional use of a low sodium salt for home cooking was not found to have any advantages over the DASH diet alone.


Assuntos
Pressão Sanguínea , Dieta Hipossódica , Abordagens Dietéticas para Conter a Hipertensão , Pré-Hipertensão/dietoterapia , Pré-Hipertensão/fisiopatologia , Adolescente , Adulto , Monitorização Ambulatorial da Pressão Arterial , Feminino , Humanos , Masculino , Projetos Piloto , Adulto Jovem
3.
Medicina (Kaunas) ; 53(1): 1-10, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28236514

RESUMO

The most frequent cause of familial glomerular hematuria is thin basement membrane nephropathy (TBMN) caused by germline COL4A3 or COL4A4 gene mutations. Less frequent but important cause with respect to morbidity is Alport syndrome caused by germline COL4A5 gene mutations. The features of Alport syndrome include hematuria, proteinuria and all males with X-linked disease and all individuals with recessive disease will develop end stage renal disease, usually at early youth. In X-linked Alport syndrome, a clear genotype-phenotype correlation is typically observed in men. Deleterious COL4A5 mutations are associated with a more severe renal phenotype and more frequent high-frequency sensorineural hearing loss and ocular abnormalities. Less severe COL4A5 mutations result in a milder phenotype, with less frequent and later onset extrarenal anomalies. The phenotype in females is highly variable, mostly due to inactivation of one of the X chromosomes. Isolated cases may be caused by de novo COL4A5 mutations or by gonosomal mosaicism. Untreated autosomal recessive Alport syndrome, caused by COL4A3 and COL4A4 mutations, is typically associated with ESRD at the age of 23-25 years and extrarenal symptoms in both men and women. The TBMN phenotype is associated with heterozygous carriers of COL4A3, COL4A4 mutations. Molecular genetic testing is the gold standard for diagnosing these diseases. Although genotype-phenotype correlations exist, the phenotype is influenced by modifying factors, which remain mainly undefined. No therapy is available that targets the cause of Alport syndrome; angiotensin-converting enzyme inhibitor therapy delays renal failure and improves lifespan.


Assuntos
Doenças Genéticas Ligadas ao Cromossomo X , Hematúria , Nefrite Hereditária , Adulto , Biópsia , Colágeno Tipo IV/genética , Feminino , Estudos de Associação Genética , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Doenças Genéticas Ligadas ao Cromossomo X/terapia , Predisposição Genética para Doença , Membrana Basal Glomerular/patologia , Hematúria/diagnóstico , Hematúria/genética , Hematúria/patologia , Hematúria/terapia , Hemizigoto , Humanos , Masculino , Nefrite Hereditária/diagnóstico , Nefrite Hereditária/genética , Nefrite Hereditária/patologia , Nefrite Hereditária/terapia , Prevalência , Proteinúria/urina , Risco
4.
J Pediatr ; 177S: S56-S59, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27666274

RESUMO

We provide an overview on child health care in Czech Republic, including a historical background. Child health care has substantially improved in Czech hospitals during the past 20 years. Eight pediatric departments are located in university hospitals. The technical background of pediatric services meets high international standards. Inpatient and outpatient care is offered on a 24-hour service, and all pediatric subspecialties are usually provided. The different pediatric subspecialties are organized in the frame of the Czech Pediatric Society, and all of them have developed dynamic international scientific collaborations. From the organizational point of view, the formation of specialized centers of competence at university departments of pediatrics followed a mixture of a "bottom-up and top-down strategy" of all opinion and decision makers.


Assuntos
Serviços de Saúde da Criança , Criança , Pré-Escolar , República Tcheca , Tchecoslováquia , Humanos
5.
BMC Bioinformatics ; 15: 118, 2014 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-24766829

RESUMO

BACKGROUND: The identification of functionally important residue positions is an important task of computational biology. Methods of correlation analysis allow for the identification of pairs of residue positions, whose occupancy is mutually dependent due to constraints imposed by protein structure or function. A common measure assessing these dependencies is the mutual information, which is based on Shannon's information theory that utilizes probabilities only. Consequently, such approaches do not consider the similarity of residue pairs, which may degrade the algorithm's performance. One typical algorithm is H2r, which characterizes each individual residue position k by the conn(k)-value, which is the number of significantly correlated pairs it belongs to. RESULTS: To improve specificity of H2r, we developed a revised algorithm, named H2rs, which is based on the von Neumann entropy (vNE). To compute the corresponding mutual information, a matrix A is required, which assesses the similarity of residue pairs. We determined A by deducing substitution frequencies from contacting residue pairs observed in the homologs of 35 809 proteins, whose structure is known. In analogy to H2r, the enhanced algorithm computes a normalized conn(k)-value. Within the framework of H2rs, only statistically significant vNE values were considered. To decide on significance, the algorithm calculates a p-value by performing a randomization test for each individual pair of residue positions. The analysis of a large in silico testbed demonstrated that specificity and precision were higher for H2rs than for H2r and two other methods of correlation analysis. The gain in prediction quality is further confirmed by a detailed assessment of five well-studied enzymes. The outcome of H2rs and of a method that predicts contacting residue positions (PSICOV) overlapped only marginally. H2rs can be downloaded from http://www-bioinf.uni-regensburg.de. CONCLUSIONS: Considering substitution frequencies for residue pairs by means of the von Neumann entropy and a p-value improved the success rate in identifying important residue positions. The integration of proven statistical concepts and normalization allows for an easier comparison of results obtained with different proteins. Comparing the outcome of the local method H2rs and of the global method PSICOV indicates that such methods supplement each other and have different scopes of application.


Assuntos
Algoritmos , Proteínas/química , Alinhamento de Sequência/métodos , Aminoácidos/química , Simulação por Computador , Enzimas/química , Evolução Molecular , Mutação , Conformação Proteica , Proteínas/genética
6.
Bioinformatics ; 29(23): 3029-35, 2013 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-24048358

RESUMO

MOTIVATION: The precise identification of functionally and structurally important residues of a protein is still an open problem, and state-of-the-art classifiers predict only one or at most two different categories. RESULT: We have implemented the classifier CLIPS-4D, which predicts in a mutually exclusively manner a role in catalysis, ligand-binding or protein stability for each residue-position of a protein. Each prediction is assigned a P-value, which enables the statistical assessment and the selection of predictions with similar quality. CLIPS-4D requires as input a multiple sequence alignment and a 3D structure of one protein in PDB format. A comparison with existing methods confirmed state-of-the-art prediction quality, even though CLIPS-4D classifies more specifically than other methods. CLIPS-4D was implemented as a multiclass support vector machine, which exploits seven sequence-based and two structure-based features, each of which was shown to contribute to classification quality. The classification of ligand-binding sites profited most from the 3D features, which were the assessment of the solvent accessible surface area and the identification of surface pockets. In contrast, five additionally tested 3D features did not increase the classification performance achieved with evolutionary signals deduced from the multiple sequence alignment.


Assuntos
Biologia Computacional/métodos , Proteínas/química , Alinhamento de Sequência/métodos , Análise de Sequência de Proteína/métodos , Software , Algoritmos , Sítios de Ligação , Catálise , Ligação Proteica , Máquina de Vetores de Suporte
8.
BMC Bioinformatics ; 13: 55, 2012 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-22480135

RESUMO

BACKGROUND: One aim of the in silico characterization of proteins is to identify all residue-positions, which are crucial for function or structure. Several sequence-based algorithms exist, which predict functionally important sites. However, with respect to sequence information, many functionally and structurally important sites are hard to distinguish and consequently a large number of incorrectly predicted functional sites have to be expected. This is why we were interested to design a new classifier that differentiates between functionally and structurally important sites and to assess its performance on representative datasets. RESULTS: We have implemented CLIPS-1D, which predicts a role in catalysis, ligand-binding, or protein structure for residue-positions in a mutually exclusive manner. By analyzing a multiple sequence alignment, the algorithm scores conservation as well as abundance of residues at individual sites and their local neighborhood and categorizes by means of a multiclass support vector machine. A cross-validation confirmed that residue-positions involved in catalysis were identified with state-of-the-art quality; the mean MCC-value was 0.34. For structurally important sites, prediction quality was considerably higher (mean MCC = 0.67). For ligand-binding sites, prediction quality was lower (mean MCC = 0.12), because binding sites and structurally important residue-positions share conservation and abundance values, which makes their separation difficult. We show that classification success varies for residues in a class-specific manner. This is why our algorithm computes residue-specific p-values, which allow for the statistical assessment of each individual prediction. CLIPS-1D is available as a Web service at http://www-bioinf.uni-regensburg.de/. CONCLUSIONS: CLIPS-1D is a classifier, whose prediction quality has been determined separately for catalytic sites, ligand-binding sites, and structurally important sites. It generates hypotheses about residue-positions important for a set of homologous proteins and focuses on conservation and abundance signals. Thus, the algorithm can be applied in cases where function cannot be transferred from well-characterized proteins by means of sequence comparison.


Assuntos
Algoritmos , Alinhamento de Sequência/métodos , Máquina de Vetores de Suporte , Sítios de Ligação , Catálise , Glicerofosfatos/metabolismo , Indol-3-Glicerolfosfato Sintase/química , Indol-3-Glicerolfosfato Sintase/metabolismo , Internet , Ligantes , Modelos Moleculares , Proteínas/química , Proteínas/metabolismo , Sulfolobus solfataricus/enzimologia
9.
Biochemistry ; 51(28): 5633-41, 2012 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-22737967

RESUMO

The analysis of a multiple-sequence alignment (MSA) with correlation methods identifies pairs of residue positions whose occupation with amino acids changes in a concerted manner. It is plausible to assume that positions that are part of many such correlation pairs are important for protein function or stability. We have used the algorithm H2r to identify positions k in the MSAs of the enzymes anthranilate phosphoribosyl transferase (AnPRT) and indole-3-glycerol phosphate synthase (IGPS) that show a high conn(k) value, i.e., a large number of significant correlations in which k is involved. The importance of the identified residues was experimentally validated by performing mutagenesis studies with sAnPRT and sIGPS from the archaeon Sulfolobus solfataricus. For sAnPRT, five H2r mutant proteins were generated by replacing nonconserved residues with alanine or the prevalent residue of the MSA. As a control, five residues with conn(k) values of zero were chosen randomly and replaced with alanine. The catalytic activities and conformational stabilities of the H2r and control mutant proteins were analyzed by steady-state enzyme kinetics and thermal unfolding studies. Compared to wild-type sAnPRT, the catalytic efficiencies (k(cat)/K(M)) were largely unaltered. In contrast, the apparent thermal unfolding temperature (T(M)(app)) was lowered in most proteins. Remarkably, the strongest observed destabilization (ΔT(M)(app) = 14 °C) was caused by the V284A exchange, which pertains to the position with the highest correlation signal [conn(k) = 11]. For sIGPS, six H2r mutant and four control proteins with alanine exchanges were generated and characterized. The k(cat)/K(M) values of four H2r mutant proteins were reduced between 13- and 120-fold, and their T(M)(app) values were decreased by up to 5 °C. For the sIGPS control proteins, the observed activity and stability decreases were much less severe. Our findings demonstrate that positions with high conn(k) values have an increased probability of being important for enzyme function or stability.


Assuntos
Aminoácidos/química , Antranilato Fosforribosiltransferase/química , Proteínas Arqueais/química , Indol-3-Glicerolfosfato Sintase/química , Alinhamento de Sequência , Sulfolobus solfataricus/enzimologia , Substituição de Aminoácidos , Antranilato Fosforribosiltransferase/genética , Proteínas Arqueais/genética , Catálise , Entropia , Estabilidade Enzimática , Temperatura Alta , Indol-3-Glicerolfosfato Sintase/genética , Cinética , Modelos Moleculares , Mutação , Conformação Proteica , Desdobramento de Proteína , Proteínas Recombinantes/química , Proteínas Recombinantes/genética
10.
Nephrol Dial Transplant ; 27(2): 820-4, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21652544

RESUMO

BACKGROUND: We hypothesized that supplementing a higher mass of renal parenchyma from adult donors, and their younger age, would improve graft function in paediatric recipients. METHODS: We calculated estimated glomerular filtration rate (eGFR; Schwartz formula) and absolute glomerular filtration rate (absGFR) in 57 renal-grafted children (1995-2007) aged 3.1-17.9 years, weighing 12.9-85.0 kg, on discharge from the hospital after transplantation (TPL), 1 year after TPL and at the last follow-up (1.5-11.7 years after TPL). We correlated their eGFR with the individual ratio between the donor and the recipient body weight at the time of TPL (donor/recipient body weight ratio; D/R BWR), and we evaluated the effect of the donor and the actual recipient body weight on the eGFR and absGFR. RESULTS: The D/R BWR varied from 0.65 to 5.23. We found a significant positive correlation between D/R BWR and eGFR at discharge from the hospital (P < 0.001), 1-year post-TPL (P < 0.001) and at the last follow-up (P < 0.05). Using multiple linear regression analyses, we found that both eGFR and absGFR values were much more determined by the actual recipient weight than by the donor weight (27/6% and 43/4% at discharge, by 24/4% and 57/0% 1 year after TPL, and 0/0% and 20/0% at the end of the follow-up). A tendency for lower eGFR with increasing age of donors was apparent at discharge and 1 year after TPL, but it reached statistical significance only at the last follow-up (r = 0.4254, P < 0.01). CONCLUSION: In paediatric renal transplants, the value of D/R BWR directly correlated with eGFR in the early and late posttransplant periods. However, this correlation was mainly influenced by the recipient weight, while the donor weight played only a minor or negligible role.


Assuntos
Peso Corporal , Falência Renal Crônica/cirurgia , Transplante de Rim/métodos , Doadores Vivos , Tamanho do Órgão , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Taxa de Filtração Glomerular , Rejeição de Enxerto , Sobrevivência de Enxerto , Humanos , Falência Renal Crônica/diagnóstico , Testes de Função Renal , Transplante de Rim/efeitos adversos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Medição de Risco , Fatores de Tempo , Doadores de Tecidos
12.
Nephrology (Carlton) ; 16(6): 595-8, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21382126

RESUMO

AIM: Obstructive uropathies (OU) in childhood constitute one of the major causes of chronic renal insufficiency. Transforming growth factor-ß1 (TGF-ß1) is considered to be the major fibrogenic growth factor. The aim of the present study was to investigate urinary TGF-ß1 levels in children with obstructive and non-obstructive uropathies (NOU). METHODS: This study involved 19 children with OU, 11 children with non-obstructive hydronephrosis and 21 healthy children. Urinary TGF-ß1, proteinuria, microalbuminuria and urinary α1-microglobulin were measured, and renal function was assessed. The results were statistically analyzed. RESULTS: Mean urinary TGF-ß1 concentrations in patients with OU were significantly higher than those with NOU (4.14 ± 0.67 creatinine vs 1.80 ± 0.24 pg/mmol creatinine, P < 0.05) and healthy controls (1.66 ± 0.28 pg/mmol creatinine, P < 0.05). Positive correlations of urinary TGF-ß1 concentrations with proteinuria (r = 0.87, P < 0.0001) and urinary α1-microglobulin (r = 0.82, P = 0.0002) were found in patients with OU. CONCLUSION: Children with OU have higher urinary TGF-ß1 than children with NOU. Urinary TGF-ß1 may be a useful non-invasive tool for the differential diagnosis between OU and NOU in children. A positive correlation of TGF-ß1 with markers of renal tissue damage in patients with OU was found.


Assuntos
Insuficiência Renal Crônica/etiologia , Fator de Crescimento Transformador beta1/urina , Obstrução Ureteral/urina , Obstrução Uretral/urina , Albuminúria/etiologia , Albuminúria/urina , alfa-Globulinas/urina , Análise de Variância , Biomarcadores/urina , Estudos de Casos e Controles , Pré-Escolar , Creatinina/urina , Estudos Transversais , República Tcheca , Feminino , Taxa de Filtração Glomerular , Humanos , Hidronefrose/etiologia , Hidronefrose/urina , Lactente , Rim/fisiopatologia , Masculino , Valor Preditivo dos Testes , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/fisiopatologia , Insuficiência Renal Crônica/urina , Regulação para Cima , Obstrução Ureteral/complicações , Obstrução Ureteral/diagnóstico , Obstrução Ureteral/fisiopatologia , Obstrução Uretral/complicações , Obstrução Uretral/diagnóstico , Obstrução Uretral/fisiopatologia
13.
Pediatr Transplant ; 14(2): 283-7, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19686445

RESUMO

The efficacy and safety of ACEI in adult patients with hypertension and proteinuria after renal transplantation is proven however data on the effectiveness of ACEI in transplanted children are rare. The aim of the present study was to investigate the effect of ramipril on proteinuria and BP in children after R-Tx. Twelve transplanted children (median age 15.3 yr, median time after R-Tx 4.5 yr) with proteinuria with or without hypertension were prospectively treated with ramipril for six months. Proteinuria was assessed as protein/creatinine ratio. Office BP was evaluated and hypertension defined as BP > or =95th centile. Graft function was assessed (Schwartz formula). The starting dose of ramipril was 1.5 mg/m(2)/24-h. Proteinuria declined in 92% of children from a median 39 to 22 mg/mmol creatinine (p < 0.01). The median decline of proteinuria was 9 mg/mmol creatinine, it reached 23% of the initial values. The prevalence of hypertension did not change significantly (50% initially vs. 33% after six months). Graft function and serum potassium level did not change significantly, two children developed mild hyperkalemia. Ramipril can reduce proteinuria in most transplanted children; its antiproteinuric effect is exhibited even without BP lowering effect.


Assuntos
Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Hipertensão/tratamento farmacológico , Transplante de Rim/efeitos adversos , Proteinúria/tratamento farmacológico , Ramipril/uso terapêutico , Adolescente , Criança , Humanos , Hipertensão/etiologia , Estudos Prospectivos , Proteinúria/etiologia
14.
Pediatr Diabetes ; 10(7): 441-8, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19500279

RESUMO

INTRODUCTION: To evaluate the diagnostic efficacy of the office blood pressure (OBP) and ambulatory blood pressure monitoring (ABPM) in the assessment of hypertension (HTN) in children with diabetes mellitus type 1 (T1DM). METHODS: We analyzed OBP and ABPM measurements in 84 diabetic children (43 boys) obtained at a median age of 14.9 yr and 6.3 +/- 3.5 yr after diagnosis of T1DM. OBP and ABPM results were converted into standard deviation scores (SDS). In addition, we analyzed blood pressure loads and nighttime dipping. The comparison between OBP and ABPM was performed using kappa coefficient and receiver operator curve (ROC). RESULTS: HTN was diagnosed in 43/84 (51%) patients using OBP (>95th percentile), and in 24/84 (29%) patients using ABPM ( > or = 95th percentile during 24 h, day or night). Both methods were in agreement in 33 ABPM normotensive and 16 ABPM hypertensive patients (most had nighttime HTN); 32% patients had white-coat HTN and 9.5% patients had masked HTN. The kappa coefficient was 0.175 (95% CI from -0.034 to 0.384) suggesting poor agreement between OBP and ABPM. Diastolic OBP was a better predictor of ABPM HTN (ROC area under the curve (AUC) = 0.71 +/- 0.06) than systolic OBP (AUC = 0.58 +/- 0.07). The percentage of non-dippers ranged from 7 to 23% in ABPM normotensive patients, and 21-42% in ABPM hypertensive patients who also had significantly higher BP loads (p < 0.0001). CONCLUSION: Children with T1DM often suffer from nocturnal, white coat- and masked HTN, which can not be assessed and predicted by the OBP.


Assuntos
Diabetes Mellitus Tipo 1/complicações , Angiopatias Diabéticas/diagnóstico , Adolescente , Albuminúria/epidemiologia , Pressão Sanguínea , Monitorização Ambulatorial da Pressão Arterial , Estatura , Peso Corporal , Criança , Ritmo Circadiano , Creatinina/urina , Angiopatias Diabéticas/fisiopatologia , Diástole , Feminino , Seguimentos , Hemoglobinas Glicadas/análise , Humanos , Hipertensão/complicações , Hipertensão/diagnóstico , Hipertensão/fisiopatologia , Masculino , Valor Preditivo dos Testes , Estudos Retrospectivos , Sístole , Adulto Jovem
15.
Pediatr Transplant ; 13(7): 881-6, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19170928

RESUMO

UTI are common in renal Tx recipients and may significantly impact on the graft function. The aim of our study was to evaluate the prevalence, risk factors, and significance of UTI in Tx children. We performed a retrospective cross-sectional study of 76 Tx patients, median age at Tx was 13.4 yr. Twenty-one of 76 (28%) patients developed at least one UTI during the mean follow-up time of 3.3 +/- 2.0 yr post-Tx. The first UTI occurred at a median of 160 days post-Tx. The RR of having UTI was significantly higher in patients with the primary diagnosis of obstructive uropathy (RR = 2.6, 95th CI = 1.1-6.0, p = 0.032), history of PN pre Tx (RR = 2.7, 95th CI = 1.3-5.4, p = 0.009) and pre Tx VUR (RR = 2.2, 95th CI = 1.1-4.5, p = 0.045). These three factors also significantly decreased the infection-free survival time to the first UTI. Most UTI caused reversible acute allograft dysfunction, but the long-term graft function could not be reliably assessed with SCr. In conclusion, UTI occurred in 28% of pediatric Tx recipients, mostly during the first year post-Tx despite antibiotic prophylaxis. The diagnosis of obstructive uropathy, history of UTI and VUR prior to Tx were significant risk factors.


Assuntos
Nefropatias/terapia , Transplante de Rim/métodos , Pielonefrite/etiologia , Infecções Urinárias/complicações , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Nefropatias/complicações , Masculino , Pielonefrite/complicações , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Infecções Urinárias/etiologia
16.
Pediatr Nephrol ; 24(10): 2051-3, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19495806

RESUMO

Autosomal recessive steroid-resistant nephrotic syndrome (NS) is a rare, genetically determined nephropathy caused mainly by a mutation in the NPHS2 gene. This type of NS is usually resistant to other immunosuppressive therapy as well, but a few cases of cyclosporine A-induced partial remission of inherited NS have been reported. We present a boy that developed NS at the age of 18 months. There was no decrease of proteinuria on standard prednisolone therapy, and a diagnosis of steroid-resistant NS was established. However, the proteinuria decreased significantly following the initiation of cyclosporine A therapy (from 1280 to 380 mg/m(2) per day) without any negative effects on renal function (stable glomerular filtration rate 130-150 ml/min per 1.73 m(2)). The molecular genetic test revealed a homozygous R138Q mutation in the NPHS2 gene. Our case demonstrates that cyclosporine A can induce partial remission in patients with genetic forms of NS without influencing the glomerular filtration rate. However, its long-term effect and safety in children with hereditary forms of nephrotic syndrome have yet to be investigated.


Assuntos
Ciclosporina/uso terapêutico , Imunossupressores/uso terapêutico , Síndrome Nefrótica/tratamento farmacológico , Fatores de Transcrição/genética , Humanos , Lactente , Masculino , Síndrome Nefrótica/congênito , Síndrome Nefrótica/genética , Indução de Remissão
17.
Pediatr Nephrol ; 24(5): 983-9, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19194729

RESUMO

Adults with autosomal dominant polycystic kidney disease (ADPKD) and PKD1 mutations have a more severe disease than do patients with PKD2 mutations. The aim of this study was to compare phenotypes between children with mutations in the PKD1/PKD2 genes. Fifty PKD1 children and ten PKD2 children were investigated. Their mean age was similar (8.6 +/- 5.4 years and 8.9 +/- 5.6 years). Renal ultrasound was performed, and office blood pressure (BP), ambulatory BP, creatinine clearance and proteinuria were measured. The PKD1 children had, in comparison with those with PKD2, significantly greater total of renal cysts (13.3 +/- 12.5 vs 3.0 +/- 2.1, P = 0.004), larger kidneys [right/left kidney length 0.89 +/- 1.22 standard deviation score (SDS) vs 0.17 +/- 1.03 SDS, P = 0.045, and 1.19 +/- 1.42 SDS vs 0.12 +/- 1.09 SDS, P = 0.014, successively] and higher ambulatory day-time and night-time systolic BP (day-time/night-time BP index 0.93 +/- 0.10 vs 0.86 +/- 0.05, P = 0.021 and 0.94 +/- 0.07 vs 0.89 +/- 0.04, P = 0.037, successively). There were no significant differences in office BP, creatinine clearance or proteinuria. Prenatal renal cysts (14%), hypertension defined by ambulatory BP (27%) and enlarged kidneys (32%) were observed only in the PKD1 children. This is the first study on genotype-phenotype correlation in children with ADPKD. PKD1 children have more and larger renal cysts, larger kidneys and higher ambulatory BP than do PKD2 children. Renal cysts and enlarged kidneys detected prenatally are highly specific for children with PKD1.


Assuntos
Rim Policístico Autossômico Dominante/genética , Canais de Cátion TRPP/genética , Pressão Sanguínea/genética , Pressão Sanguínea/fisiologia , Monitorização Ambulatorial da Pressão Arterial , Criança , Feminino , Genótipo , Humanos , Hipertensão/genética , Hipertensão/patologia , Hipertensão/fisiopatologia , Rim/diagnóstico por imagem , Masculino , Fenótipo , Rim Policístico Autossômico Dominante/patologia , Rim Policístico Autossômico Dominante/fisiopatologia , Estudos Retrospectivos , Canais de Cátion TRPP/sangue , Ultrassonografia
18.
Eur J Pediatr ; 168(4): 417-26, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18594860

RESUMO

BACKGROUND: We aimed to determine the status of and factors associated with adolescent health care delivery and training in Europe on behalf of the European Paediatric Association-UNEPSA. MATERIALS AND METHODS: A questionnaire was mailed to the presidents of 48 national paediatric societies in Europe. For statistical analyses, non-parametric tests were used as appropriate. RESULTS: Six of the countries had a paediatric (PSPCA), 14 had a combined and nine had a general practitioner/family doctor system for the primary care of adolescents (GP/FDSA). Paediatricians served children 17 years of age or older in 15 and 17, up to 16 years of age in three and six, and up to 14 years of age in six and six countries in outpatient and inpatient settings, respectively. Fifteen and 18 of the countries had some kind of special inpatient wards and outpatient clinics for adolescents, respectively. Twenty-eight of the countries had some kind of national/governmental screening or/and preventive health programmes for adolescents. In countries with a PSPCA, the gross national income (GNI) per capita was significantly lower than in those with a GP/FDSA, and the mean upper age limit of adolescents was significantly higher than in those with the other systems. In the eastern part of Europe, the mortality rate of 10-14 year olds was significantly higher than that in the western part (p=0.008). Training in adolescent medicine was offered in pre-graduate education in 14 countries in the paediatric curriculum and in the context of paediatric residency and GP/family physician residency programmes in 18 and nine countries, respectively. Adolescent medicine was reported as a recognised subspecialty in 15 countries and as a certified subspecialty of paediatrics in one country. In countries with a PSPCA, paediatric residents were more likely to be educated in adolescent medicine than paediatric residents in countries with a GP/FDSA. CONCLUSION: The results of the present study show that there is a need for the reconstruction and standardisation of adolescent health care delivery and training in European countries. The European Paediatric Association-UNEPSA could play a key role in the implementation of the proposals suggested in this paper.


Assuntos
Serviços de Saúde do Adolescente/estatística & dados numéricos , Atenção à Saúde/estatística & dados numéricos , Demografia , Adolescente , Medicina do Adolescente/educação , Medicina do Adolescente/estatística & dados numéricos , Fatores Etários , Atenção à Saúde/métodos , Educação Médica/estatística & dados numéricos , Europa (Continente) , Medicina de Família e Comunidade/educação , Medicina de Família e Comunidade/métodos , Medicina de Família e Comunidade/estatística & dados numéricos , Humanos , Pediatria/educação , Pediatria/métodos , Pediatria/estatística & dados numéricos , Médicos de Família/educação , Médicos de Família/estatística & dados numéricos , Padrões de Prática Médica , Inquéritos e Questionários
19.
Kidney Blood Press Res ; 31(5): 337-42, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18946224

RESUMO

BACKGROUND/AIMS: In adults, nighttime hypertension and hyperuricemia are new risk factors for progression of IgA nephropathy (IgAN). In children, nighttime blood pressure (BP) and serum uric acid have never been investigated. The aim of the study was to investigate nighttime BP and uric acid in children with IgAN. METHODS: Data on children with IgAN from two pediatric nephrology centers were retrospectively reviewed (renal biopsy - subclasses according Hass I-V, ambulatory blood pressure monitoring ABPM, serum uric acid, proteinuria). RESULTS: Twenty-eight untreated children with IgAN were included. Hypertension was diagnosed on the basis of ABPM in 54% of children, 50% were nondippers and 25% have isolated nighttime hypertension. The mean ambulatory BP was higher at nighttime than during daytime (systolic nighttime BP 1.11 +/- 0.79 SDS vs. daytime 0.59 +/- 0.79, diastolic nighttime BP 1.16 +/- 0.95 vs. daytime 0.52 +/- 1.10, p < 0.01 for systolic and p = 0.01 for diastolic). Children with severe histological subclasses (III-IV) tended to have higher prevalence of hypertension than children with mild subclasses (I-II), 67% vs. 38%, p = 0.13. Hyperuricemia was diagnosed in 14% of children. A significant correlation was found between proteinuria and histopathological subclasses (r = 0.44, p < 0.05). CONCLUSION: Children with IgAN have often nighttime hypertension. Hypertension and proteinuria are associated with severe histopathological findings. Hyperuricemia is a rare finding in children.


Assuntos
Monitorização Ambulatorial da Pressão Arterial , Glomerulonefrite por IGA/patologia , Glomerulonefrite por IGA/fisiopatologia , Proteinúria , Ácido Úrico/sangue , Adolescente , Criança , Ritmo Circadiano , Diástole , Feminino , Humanos , Hiperuricemia , Masculino , Estudos Retrospectivos , Sístole
20.
Am J Hypertens ; 20(9): 990-6, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17765141

RESUMO

BACKGROUND: Left-ventricular hypertrophy (LVH) is a risk factor for cardiovascular morbidity. Antihypertensive treatment with angiotensin-converting enzyme inhibitors (ACEI) is able to induce the regression of LVH in adults. However, there has been no study of the ability of ACEI to induce the regression of LVH in children. Our aim was to investigate the effect of ramipril on left-ventricular mass and blood pressure (BP) in hypertensive children. METHODS: Twenty-one children (median age, 15 years) with renal (76%) or primary (24%) hypertension were prospectively treated with ramipril monotherapy for 6 months. Blood pressure was evaluated using ambulatory BP monitoring, with hypertension defined as mean BP >or=95th percentile. Left-ventricular hypertrophy was defined either as left-ventricular mass index (LVMI) >38.6 g/m(2.7) (pediatric definition) or as LVMI >51.0 g/m(2.7) (adult definition). RESULTS: Nineteen children completed the study. The median LVMI decreased from 36.8 g/m(2.7) (range, 18.9 to 55.8 g/m(2.7)) to 32.6 g/m(2.7) (range, 19.0 to 52.1 g/m(2.7); P < .05) after 6 months. The prevalence of LVH decreased from 42% to 11% using the pediatric definition (P < .05) and did not change using the adult definition (ie, it remained at 5%). The median ambulatory BP decreased by 11, 7, 8, and 7 mm Hg for daytime systolic, daytime diastolic, nighttime systolic, and nighttime diastolic BP (P < .05), respectively. A positive correlation was found between LVMI and nighttime systolic BP at the start of the study (r = 0.46, P < .05). CONCLUSIONS: Ramipril is an effective drug in children with hypertension, for its ability to reduce not only BP but also left-ventricular mass and induce regression of LVH.


Assuntos
Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Hipertensão/tratamento farmacológico , Hipertrofia Ventricular Esquerda/tratamento farmacológico , Ramipril/uso terapêutico , Adolescente , Índice de Massa Corporal , Criança , Pré-Escolar , Feminino , Humanos , Hipertensão/fisiopatologia , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/fisiopatologia , Rim/fisiopatologia , Masculino , Ramipril/efeitos adversos , Ultrassonografia
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