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1.
Kidney Int Rep ; 9(4): 973-981, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38765578

RESUMO

Introduction: Unlike idiopathic nephrotic syndrome (NS), hereditary podocytopathies are not expected to recur after kidney transplantation. However, some reports of posttransplant recurrence of NS in patients carrying variants in the NPHS2 gene have been described, notably with the p.Arg138Gln variant, which is more prevalent in Europe. The objective of this study was to assess the risk of recurrence after kidney transplantation in a large cohort of patients with biallelic NPHS2 pathogenic variants. Methods: Since January 2010, 61 patients identified at Necker-Enfants Malades Hospital and 56 enrolled in the PodoNet Registry with biallelic variants in the NPHS2 gene were transplanted and were compared with 44 transplanted children with steroid-resistant NS (SRNS) without any identified pathogenic variant. Results: Of the 117 patients, 23 carried the p.Arg138Gln variant in the homozygous state and 16 in the compound heterozygous state. The other 78 patients carried different variants in the homozygous (n = 44) or compound heterozygous state. Only 1 patient with NPHS2-related SRNS experienced posttransplant recurrence (median follow-up of cohort 8.5 years [2.5-15]). Conversely, 7 of 44 patients (16%) without any identified pathogenic variant recurred within a maximum of 7 days after transplantation (median follow-up 8.9 years [0.6-13.9]). Conclusion: In this large cohort, the risk of patients with causative variants in the NPHS2 gene to develop NS recurrence after kidney transplantation was extremely low. This is coherent with the pathophysiology of intrinsic slit-diaphragm disease. These data are reassuring and should be considered when counselling patients, making living kidney donation, whether related or not, a safe choice.

2.
Kidney Int ; 102(3): 604-612, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35643375

RESUMO

Primary Coenzyme Q10 (CoQ10) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ10 biosynthesis leading to multidrug-resistant nephrotic syndrome as the hallmark kidney manifestation. Promising early results have been reported anecdotally with oral CoQ10 supplementation. However, the long-term efficacy and optimal prescription remain to be established. In a global effort, we collected and analyzed information from 116 patients who received CoQ10 supplements for primary CoQ10 deficiency due to biallelic pathogenic variants in either the COQ2, COQ6 or COQ8B genes. Median duration of follow up on treatment was two years. The effect of treatment on proteinuria was assessed, and kidney survival was analyzed in 41 patients younger than 18 years with chronic kidney disease stage 1-4 at the start of treatment compared with that of an untreated cohort matched by genotype, age, kidney function, and proteinuria. CoQ10 supplementation was associated with a substantial and significant sustained reduction of proteinuria by 88% at 12 months. Complete remission of proteinuria was more frequently observed in COQ6 disease. CoQ10 supplementation led to significantly better preservation of kidney function (5-year kidney failure-free survival 62% vs. 19%) with an improvement in general condition and neurological manifestations. Side effects of treatment were uncommon and mild. Thus, our findings indicate that all patients diagnosed with primary CoQ10 deficiency should receive early and life-long CoQ10 supplementation to decelerate the progression of kidney disease and prevent further damage to other organs.


Assuntos
Doenças Mitocondriais , Síndrome Nefrótica , Ubiquinona , Ataxia/tratamento farmacológico , Suplementos Nutricionais , Humanos , Rim/patologia , Doenças Mitocondriais/tratamento farmacológico , Debilidade Muscular/tratamento farmacológico , Mutação , Síndrome Nefrótica/complicações , Síndrome Nefrótica/tratamento farmacológico , Síndrome Nefrótica/genética , Proteinúria/diagnóstico , Proteinúria/tratamento farmacológico , Esteroides/uso terapêutico , Ubiquinona/análogos & derivados , Ubiquinona/deficiência , Ubiquinona/uso terapêutico
3.
Kidney Int ; 102(3): 592-603, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35483523

RESUMO

Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated with disease-causing variants in the genes COQ2, COQ6 or COQ8B. We performed a systematic literature review, PodoNet, mitoNET, and CCGKDD registries queries and an online survey, collecting comprehensive clinical and genetic data of 251 patients spanning 173 published (47 updated) and 78 new cases. Kidney disease was first diagnosed at median age 1.0, 1.2 and 9.8 years in individuals with disease-causing variants in COQ2, COQ6 and COQ8B, respectively. Isolated kidney involvement at diagnosis occurred in 34% of COQ2, 10.8% of COQ6 and 70.7% of COQ8B variant individuals. Classic infantile multiorgan involvement comprised 22% of the COQ2 variant cohort while 47% of them developed neurological symptoms at median age 2.7 years. The association of steroid-resistant nephrotic syndrome and sensorineural hearing loss was confirmed as the distinctive phenotype of COQ6 variants, with hearing impairment manifesting at average age three years. None of the patients with COQ8B variants, but 50% of patients with COQ2 and COQ6 variants progressed to kidney failure by age five. At adult age, kidney survival was equally poor (20-25%) across all disorders. A number of sequence variants, including putative local founder mutations, had divergent clinical presentations, in terms of onset age, kidney and non-kidney manifestations and kidney survival. Milder kidney phenotype was present in those with biallelic truncating variants within the COQ8B variant cohort. Thus, significant intra- and inter-familial phenotype variability was observed, suggesting both genetic and non-genetic modifiers of disease severity.


Assuntos
Síndrome Nefrótica , Ataxia , Estudos de Associação Genética , Humanos , Doenças Mitocondriais , Debilidade Muscular , Mutação , Síndrome Nefrótica/diagnóstico , Esteroides , Ubiquinona/deficiência
4.
Pediatr Nephrol ; 33(12): 2383-2387, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30232548

RESUMO

BACKGROUND: Treatment of steroid resistant nephrotic syndrome is still a challenge for physicians. There are a growing number of studies exploring genetic background of steroid-resistant glomerulopathies. CASE DIAGNOSIS/TREATMENT: We present the case of a 4-year-old girl with steroid-resistant glomerulopathy due to a COQ6 defect with no additional systemic symptoms. The disease did not respond for second-line therapy with calcineurin inhibitor, but it remitted completely after oral treatment with 30 mg/kg/d of coenzyme Q10 (CoQ10). The patient was identified to be a compound heterozygote for two pathogenic variants in COQ6 gene: a known missense substitution c.1078C > T (p.R360W) and a novel frameshift c.804delC mutation. After 12 months of CoQ10 therapy, the child remains in full remission, her physical development accelerated, frequent respiratory airways diseases subsided. CONCLUSIONS: Genetic assessment of children with steroid-resistant nephrotic proteinuria enables therapy optimization. Proteinuria caused by a COQ6 gene defect can be successfully treated with CoQ10.


Assuntos
Glomerulosclerose Segmentar e Focal/tratamento farmacológico , Nefrose Lipoide/tratamento farmacológico , Proteinúria/tratamento farmacológico , Ubiquinona/análogos & derivados , Inibidores da Enzima Conversora de Angiotensina/administração & dosagem , Inibidores de Calcineurina/administração & dosagem , Pré-Escolar , Quimioterapia Combinada/métodos , Feminino , Testes Genéticos , Glomerulosclerose Segmentar e Focal/diagnóstico , Glomerulosclerose Segmentar e Focal/genética , Glomerulosclerose Segmentar e Focal/urina , Glucocorticoides/administração & dosagem , Heterozigoto , Humanos , Mutação , Nefrose Lipoide/diagnóstico , Nefrose Lipoide/genética , Nefrose Lipoide/urina , Proteinúria/diagnóstico , Proteinúria/genética , Proteinúria/urina , Resultado do Tratamento , Ubiquinona/administração & dosagem , Ubiquinona/genética
5.
Adv Med Sci ; 60(1): 18-24, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25240137

RESUMO

PURPOSE: To evaluate the effect of hypertension (HTN) and antihypertensive medications (AHM) on residual renal function (RRF) in children on CAPD and APD. MATERIAL/METHODS: We retrospectively evaluated underlying kidney disease, systolic and diastolic blood pressure (SBP/DBP), presence and control of HTN (SBP/DBP≥95th percentile), AHM, RRF (daily diuresis, residual glomerular filtration rate [rGFR]), biochemical parameters, BMI Z-score, and dialysis parameters during 12-month follow-up in 87 children (38 CAPD, 49 APD) aged 10.22±4.31 years. The rate of RRF loss was expressed as absolute and relative [%] reduction. RESULTS: At baseline, HTN was found in 74.7% patients (CAPD/APD: 84.2%/67.3%, P=0.06), most commonly in HUS and least frequently in CAKUT. The proportion of CAPD/APD patients with poorly controlled HTN was 70.0%/63.3% (P=0.50). Relative daily diuresis loss in children with uncontrolled HTN was higher (P=0.017) compared to children with SBP/DBP <95th percentile. No effect of AHM on the rate of RRF loss was found. In multivariate analysis, absolute daily diuresis loss was related to baseline diuresis (ß=-0.30, P<0.001) and proteinuria (ß=-0.31, P=0.004); absolute rGFR loss to baseline rGFR (ß=-0.73, P<0.001) and glucose load after 12 months (ß=-0.36, P=0.02); relative daily diuresis loss to mean BMI Z-score (ß=-0.44, P=0.04); and relative rGFR to baseline rGFR (ß=-0.37, P<0.001) and SBP percentile (ß=-0.21, P=0.045).


Assuntos
Anti-Hipertensivos/uso terapêutico , Hipertensão/complicações , Rim/fisiopatologia , Diálise Peritoneal , Adolescente , Criança , Feminino , Taxa de Filtração Glomerular/fisiologia , Humanos , Masculino , Análise Multivariada , Proteinúria/fisiopatologia , Estudos Retrospectivos
6.
Ann Agric Environ Med ; 21(4): 876-81, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25528938

RESUMO

INTRODUCTION AND OBJECTIVE: Chronic kidney disease (CKD) in children burdens life of patients and their families. Little is known about parents` assessment of families' social situation. However, the knowledge of the details of a patient's and his family's life standards might influence modification and optimization of applied therapy. Therefore, the main goal of the present study was to explore the selected elements of life situation of patients suffering with CKD as well as their parents, depending on the CKD stage and appropriate treatment. MATERIALS AND METHODS: Cross-sectional national study was conducted. A total of 203 children with CKD and 388 their parent-proxies (196 women and 192 men) were enrolled into this study. Patient data and questionnaires filled by both parents, concerning social-demographic parameters and assessment of changes in families after CKD diagnosis in the child, were analysed. RESULTS: CKD children are being brought up in proper families whose financial situation is not good. Children need help in process of education. Perception of current situation differed between both parents in the change of the income source, taking care of CKD child, change in social relations and evaluating relations with medical staff. Parents do not obtain proper support from social workers. CONCLUSION: Families of CKD children require support in area of financial and educational help for school children. The discrepancies in evaluation of family situation between mothers and fathers of ill children might be the source of conflicts possibly resulting in worsening the outcome for CKD children.


Assuntos
Pais/psicologia , Qualidade de Vida , Insuficiência Renal Crônica/psicologia , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Percepção , Polônia , Insuficiência Renal Crônica/etiologia , Fatores Sociológicos , Estresse Psicológico , Inquéritos e Questionários
7.
Kidney Blood Press Res ; 37(6): 579-87, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24356548

RESUMO

BACKGROUND/AIMS: Chronic medical illness is a significant risk factor for the development of psychiatric disorders. The aims of the study were: to investigate the level of anxiety in children with chronic kidney disease (CKD) and to identify factors associated with the presence of that emotional problem. METHODS: CKD children on hemodialysis (HD, n=22), peritoneal dialysis (PD, n=20,) and on conservative treatment (CT, n=95) were enrolled in the study. We used State-Trait Anxiety Inventory (STAI) for adolescents and STAI-C for children. Socio-demographic and physical factors were assessed. RESULTS: There was a significantly higher level of anxiety-state among HD children (8-12 years) compared with other groups of participants of the same age and Polish population norms. The level of anxiety among adolescents (13-18 years), both anxiety-state and anxiety-trait, was significantly higher in the HD group compared with other groups, which did not differ among themselves. In the HD adolescents, there was a correlation between the anxiety-state and the duration of the disease as well as with the number of hospitalizations. PD adolescents in the mainstream education had higher levels of anxiety-state and anxiety-trait compared with home schooled patients. CONCLUSIONS: Even though children and adolescents with CKD are at risk of developing a variety of emotional disorders, the level of anxiety among the researched group, with the exception of HD patients, was not significantly different than the level of anxiety among healthy subjects. Adolescents on HD who present a high level of anxiety should undergo long-term psychological treatment.


Assuntos
Ansiedade/epidemiologia , Ansiedade/psicologia , Diálise Renal/psicologia , Insuficiência Renal Crônica/epidemiologia , Insuficiência Renal Crônica/psicologia , Adolescente , Ansiedade/diagnóstico , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Polônia/epidemiologia , Insuficiência Renal Crônica/diagnóstico , Autorrelato
8.
Pediatr Nephrol ; 28(11): 2157-67, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23949628

RESUMO

BACKGROUND: The aim of this study was to analyze psychosocial aspects of chronic kidney disease (CKD) in children treated with automated peritoneal dialysis (APD). METHODS: The study assessed 41 children > 2 (range 2.1-18) years of age and their parents. Data concerning the illness and sociodemographic parameters were collected. Patients completed the Paediatric Quality of Life Inventory (PedsQL) and their parents the PedsQL-proxy version, General Health Questionnaire (GHQ-12), Berlin Social Support Scales (BSSS), and Caregiver's Burden Scale (CBS). RESULTS: Parents rated their children's overall health-related quality of life (QoL) as well as their physical and emotional functioning lower than the patients themselves. The majority of primary caregivers had a medium level of the total burden index in the CBS and higher values in the scales need for support and perceived available support than in the received support (BSSS). In the GHQ-12, 51.2% of primary caregivers had scores >2 points, which indicated the possible occurrence of abnormal mental functioning. CONCLUSIONS: Financial support for patients' families is necessary. Parents who provide primary care to children on PD require, above all, emotional support and assistance in self-fulfilment. More than half of them may have impaired mental function. There is the strong need to provide continuous psychological care for caregivers. Differences in perception of the children's activity in varied areas by the patients themselves and their caregivers may contribute to further problems within families.


Assuntos
Diálise Peritoneal/estatística & dados numéricos , Insuficiência Renal Crônica/epidemiologia , Adolescente , Automação , Cuidadores , Criança , Pré-Escolar , Efeitos Psicossociais da Doença , Estudos Transversais , Escolaridade , Emoções/fisiologia , Família , Feminino , Nível de Saúde , Inquéritos Epidemiológicos , Humanos , Masculino , Pais , Polônia/epidemiologia , Qualidade de Vida , Insuficiência Renal Crônica/psicologia , Insuficiência Renal Crônica/terapia , Instituições Acadêmicas , Comportamento Social , Apoio Social , Seguridade Social/estatística & dados numéricos , Fatores Socioeconômicos , Estresse Psicológico/epidemiologia , Estresse Psicológico/psicologia
9.
J Appl Genet ; 54(3): 327-33, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23645318

RESUMO

Hereditary nephrotic syndrome is caused by mutations in a number of different genes, the most common being NPHS2. The aim of the study was to identify the spectrum of NPHS2 mutations in Polish patients with the disease. A total of 141 children with steroid-resistant nephrotic syndrome (SRNS) were enrolled in the study. Mutational analysis included the entire coding sequence and intron boundaries of the NPHS2 gene. Restriction fragment length polymorphism (RFLP) and TaqMan genotyping assay were applied to detect selected NPHS2 sequence variants in 575 population-matched controls. Twenty patients (14 %) had homozygous or compound heterozygous NPHS2 mutations, the most frequent being c.1032delT found in 11 children and p.R138Q found in four patients. Carriers of the c.1032delT allele were exclusively found in the Pomeranian (Kashubian) region, suggesting a founder effect origin. The 14 % NPHS2 gene mutation detection rate is similar to that observed in other populations. The heterogeneity of mutations detected in the studied group confirms the requirement of genetic testing the entire NPHS2 coding sequence in Polish patients, with the exception of Kashubs, who should be initially screened for the c.1032delT deletion.


Assuntos
Efeito Fundador , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas de Membrana/genética , Síndrome Nefrótica/congênito , Idade de Início , Alelos , Criança , Pré-Escolar , Análise Mutacional de DNA , Variação Genética , Genótipo , Geografia , Heterozigoto , Homozigoto , Humanos , Lactente , Mutação , Síndrome Nefrótica/etnologia , Síndrome Nefrótica/genética , Polônia , Polimorfismo de Fragmento de Restrição
10.
Kidney Int ; 84(1): 206-13, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23515051

RESUMO

Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent cohort of the international PodoNet registry to develop a rational screening approach based on 227 patients with nonsyndromic steroid-resistant nephrotic syndrome aged 10-20 years. Of these, 21% had a positive family history. Autosomal dominant cases were screened for WT1, TRPC6, ACTN4, and INF2 mutations. All other patients had the NPHS2 gene screened, and WT1 was tested in sporadic cases. In addition, 40 sporadic cases had the entire coding region of INF2 tested. Of the autosomal recessive and the sporadic cases, 13 and 6%, respectively, were found to have podocin-associated nephrotic syndrome, and 56% of them were compound heterozygous for the nonneutral p.R229Q polymorphism. Four percent of the sporadic and 10% of the autosomal dominant cases had a mutation in WT1. Pathogenic INF2 mutations were found in 20% of the dominant but none of the sporadic cases. In a large cohort of adolescents including both familial and sporadic disease, NPHS2 mutations explained about 7% and WT1 4% of cases, whereas INF2 proved relevant only in autosomal dominant familial disease. Thus, screening of the entire coding sequence of NPHS2 and exons 8-9 of WT1 appears to be the most rational and cost-effective screening approach in sporadic juvenile steroid-resistant nephrotic syndrome.


Assuntos
Análise Mutacional de DNA , Testes Genéticos/métodos , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas de Membrana/genética , Mutação , Síndrome Nefrótica/congênito , Actinina/genética , Adolescente , Idade de Início , Criança , Éxons , Feminino , Forminas , Predisposição Genética para Doença , Humanos , Masculino , Proteínas dos Microfilamentos/genética , Síndrome Nefrótica/genética , Síndrome Nefrótica/terapia , Linhagem , Fenótipo , Valor Preditivo dos Testes , Prognóstico , Sistema de Registros , Canais de Cátion TRPC/genética , Canal de Cátion TRPC6 , Proteínas WT1/genética , Adulto Jovem
11.
Perit Dial Int ; 32(4): 410-8, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22859841

RESUMO

UNLABELLED: BACKGROUND, OBJECTIVES, AND METHODS: Hospitalization and mortality rates in pediatric dialysis patients remain unacceptably high. Although studies have associated the presence of comorbidities with an increased risk for death in a relatively small number of pediatric dialysis patients, no large-scale study had set out to describe the comorbidities seen in pediatric dialysis patients or to evaluate the impact of those comorbidities on outcomes beyond the newborn period. In the present study, we evaluated the prevalence of comorbidities in a large international cohort of pediatric chronic peritoneal dialysis (CPD) patients from the International Pediatric Peritoneal Dialysis Network registry and began to assess potential associations between those comorbidities and hospitalization rates and mortality. RESULTS: Information on comorbidities was available for 1830 patients 0 - 19 years of age at dialysis initiation. Median age at dialysis initiation was 9.1 years [interquartile range (IQR): 10.9], median follow-up for calculation of hospitalization rates was 15.2 months (range: 0.2 - 80.9 months), and total follow-up time in the registry was 2095 patient-years. At least 1 comorbidity had been reported for 602 of the patients (32.9%), with 283 (15.5%) having cognitive impairment; 230 (12.6%), motor impairment; 167 (9.1%), cardiac abnormality; 76 (4.2%), pulmonary abnormality; 212 (11.6%), ocular abnormality; and 101 (5.5%), hearing impairment. Of the 150 patients (8.2%) that had a defined syndrome, 85% had at least 1 nonrenal comorbidity, and 64% had multiple comorbidities. The presence of at least 1 comorbidity was associated with a higher hospitalization rate [hospital days per 100 observation days: 1.7 (IQR: 5.8) vs 1.2 (IQR: 3.9), p = 0.001] and decreased patient survival (4-year survival rate: 73% vs 90%, p < 0.0001). CONCLUSIONS: Nearly one third of pediatric CPD patients in a large international cohort had at least 1 comorbidity, and multiple comorbidities were frequently reported among patients with a defined syndrome. Preliminary analysis suggests an association between comorbidity and poor outcome in those patients. As this powerful international registry matures, further multivariate analyses will be important to more clearly define the impact of comorbidities on hospitalization rates and mortality in pediatric CPD patients.


Assuntos
Falência Renal Crônica/terapia , Diálise Peritoneal/efeitos adversos , Adolescente , Criança , Pré-Escolar , Doença Crônica , Comorbidade , Feminino , Seguimentos , Hospitalização , Humanos , Lactente , Falência Renal Crônica/epidemiologia , Falência Renal Crônica/mortalidade , Masculino , Diálise Peritoneal/mortalidade , Prevalência , Sistema de Registros , Análise de Sobrevida
12.
Scand J Urol Nephrol ; 46(5): 375-80, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22587334

RESUMO

OBJECTIVE: Erythropoiesis-stimulating agents (ESAs) are applied as a standard therapy in children with anaemia in chronic kidney disease. The aim of this study was to describe the efficacy and details of ESA treatment in a population of dialysed children in Poland. MATERIAL AND METHODS: The study had a prospective observational design and was performed in 12 dialysis centres. The study group comprised 117 dialysed children with a mean age at enrolment of 165.33 (97.18-196.45) months. RESULTS: Dialysed children were treated mostly with epoietin beta and darbepoietin. The mean dose of ESA was 99 (68-147) U/kg/week with a significant difference between patients on peritoneal dialysis [83 (54-115)] and haemodialysis [134 (103-186)] (p < 0.0001). The mean haemoglobin of all the time-point tests during 6 months was 10.91 ± 1.18 g/dl. The efficacy of anaemia treatment was unsatisfactory in 52% of subjects. In multivariate analysis, initial haemoglobin level <10 g/l, any infection, younger age at first dialysis, malnutrition and inadequate ESA dosage remained significant predictors of anaemia. CONCLUSIONS: The study revealed that anaemia treatment in Polish children is unsatisfactory. Late commencement of the treatment, inadequate dosing, malnutrition and infections could constitute risk factors for therapy failure.


Assuntos
Anemia/tratamento farmacológico , Eritropoetina/análogos & derivados , Hematínicos/uso terapêutico , Falência Renal Crônica , Adolescente , Fatores Etários , Anemia/etiologia , Criança , Pré-Escolar , Estudos de Coortes , Darbepoetina alfa , Índices de Eritrócitos , Eritropoetina/uso terapêutico , Feminino , Humanos , Lactente , Falência Renal Crônica/complicações , Falência Renal Crônica/terapia , Masculino , Desnutrição/complicações , Análise Multivariada , Avaliação de Resultados em Cuidados de Saúde , Polônia , Proteínas Recombinantes/uso terapêutico , Diálise Renal , Resultado do Tratamento , Adulto Jovem
13.
Adv Perit Dial ; 28: 112-9, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23311226

RESUMO

We set out to assess the effect of continuous ambulatory peritoneal dialysis (CAPD) and automated peritoneal dialysis (APD) on residual renal function (RRF) in children with end-stage renal disease (ESRD). In 101 children (age: 8.84 +/- 5.25 years; 44 on CAPD, 57 on APD) over 36 months, we evaluated RRF [as daily diuresis (DD) in mL/kg/24 h and mL/m2/24 h], glomerular filtration rate [GFR (in mL/min/1.73 m2)], ESRD cause, presence of arterial hypertension (HTN), biochemical parameters, peritoneal equilibration test (PET), adequacy [as total weekly Kt/V (twKt/V) and creatinine clearance (twCCr)], and infectious complications of PD. Initially, the CAPD and APD groups did not differ significantly in DD, but mean GFR was significantly higher in the APD group (p < 0.05). In the CAPD group, the volume of high osmolarity PD fluid was significantly lower (p < 0.05), and the rates of peritonitis and exit-site infection and of aminoglycoside use were higher (p < 0.001, p < 0.05, and p < 0.005 respectively). Over 36 months, the mean twKt/V and twCCr were within norms in both groups, but were higher in APD, significantly so (p < 0.05) for twKt/V at 24 and 36 months and for twCCr initially. In both groups, RRF decreased systematically, with a significantly lower (p < 0.05) rate of DD (mL/m2/24 h) and GFR decline in the first year in CAPD, but without a difference in the next 2 years. The longest RRF preservation was in children with tubulointerstitial nephropathies, particularly hypoplasia and dysplasia (p < 0.05). Children with hemolytic uremic syndrome (HUS) and hereditary nephropathy were at the highest anuria risk. Compared with the 22 children (7 CAPD, 15 APD) who became anuric, the 20 children (10 CAPD, 10 APD) with RRF preserved for 36 months had a higher DD and GFR before dialysis onset; higher hemoglobin and albumin; and lower HTN prevalence, cholesterol, triglycerides, and proteinuria (p < 0.05). Risk of anuria during 36 months did not differ significantly between the CAPD and APD groups. In children on CAPD or APD, risk factors for RRF loss include HUS, hereditary nephropathy, low diuresis and GFR before dialysis onset, HTN, anemia, hypoalbuminemia, hyperlipidemia, and proteinuria. Compared with children on APD, those on CAPD show better preservation of RRF during year 1, although the risk of anuria seems to be the same for both methods. In children with risk factors for rapid diuresis loss, CAPD might be considered the preferred initial dialysis method.


Assuntos
Falência Renal Crônica/fisiopatologia , Rim/fisiopatologia , Diálise Peritoneal/métodos , Adolescente , Criança , Pré-Escolar , Diurese , Taxa de Filtração Glomerular , Humanos , Lactente , Diálise Peritoneal/efeitos adversos , Diálise Peritoneal Ambulatorial Contínua/métodos
14.
Arch Med Sci ; 6(3): 414-9, 2010 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-22371780

RESUMO

INTRODUCTION: Peritoneal dialysis (PD) is a preferred method of renal replacement therapy for end-stage renal disease in children. Recent advances have allowed chronic PD to be provided to children of all ages and sizes. MATERIAL AND METHODS: The study was designed as a national (10 dialysis centres), multicentre retrospective analysis of the medical history of 33 children who started chronic peritoneal dialysis in their infancy between 1993 and 2005, with a follow-up period of at least 24 months. RESULTS: The nutritional status of the infants was unsatisfactory. The mean SDS of body weight at the start was -2.0, at 1 year of age -1.7. Only 40% of infants were adequately nourished at 1 year of age. Long-term follow-up analysis showed that 12 children received a kidney transplant, 13 were still on dialysis (4 changed method) and 6 died (mortality rate in the first year of life of 9%). In 2 children we observed an improvement of renal function. We observed a relatively high (1/8.8 patient-months) peritonitis rate in the analysed children when compared to 1 : 22 patient-months in all children undergoing PD in Poland. CONCLUSIONS: The results of our survey have shown that the management of dialysed infants is still a challenge for the medical team and families, but long-term results of the therapy are encouraging.

15.
Pol Merkur Lekarski ; 24 Suppl 4: 117-8, 2008.
Artigo em Polonês | MEDLINE | ID: mdl-18924522

RESUMO

UNLABELLED: We report a 24-year-old patient with neurogenic bladder due to myelomeningocele (MMC) who received a kidney transplant without prior bladder reconstruction. Following transplantation recurrent episodes of febrile pyelonephritis were observed with elevations of creatinine. A year after Tx a bladder augmentation was performed with appendicostomy to enable intermittent catheterization. Following surgery only sporadic episodes of UTI have been observed and his renal function is stable. CONCLUSION: bladder reconstruction surgery in patients with neurogenic bladder is feasible post transplantation though the optimal timing is prior to a kidney Tx.


Assuntos
Transplante de Rim/métodos , Meningomielocele/complicações , Bexiga Urinaria Neurogênica/cirurgia , Adulto , Humanos , Masculino , Procedimentos de Cirurgia Plástica , Bexiga Urinária/cirurgia , Bexiga Urinaria Neurogênica/etiologia
16.
Przegl Lek ; 63 Suppl 3: 72-4, 2006.
Artigo em Polonês | MEDLINE | ID: mdl-16898493

RESUMO

We retrospectively analysed peritoneal dialysis treatment in 29 infants dialysed in 9 paediatric centres in Poland in the years 1993-2004. The mean age at the start of dialysis was 4.9 +/- 3.5 months (range 2 days to 11 months), mean body mass 5.6 +/- 2.5 kg (range 2.5 to 11 kg). The mean duration of PD was 6.8 +/- 3.9 in the first year of life and total duration of the therapy 34 +/- 27 months. Of the 29 infants 4 died (2 in infancy), 11 underwent renal transplantation, in 2 children PD was stopped (they received a conventional treatment) and 12 were still dialysed at the date of data collection. The peritonitis rate was 1/9.5 patient-month and exit site infection rate 1/16 patient-month up to 1 year of life. 9 children (31%) required hernia repairs and in 9 catheters were replaced. Chronic peritoneal dialysis in infants is associated with high risk of infections and surgical complications and remains a challenge for paediatric nephrologists.


Assuntos
Infecções/epidemiologia , Diálise Peritoneal/estatística & dados numéricos , Peritonite/epidemiologia , Peritonite/terapia , Causalidade , Comorbidade , Hérnia/epidemiologia , Humanos , Lactente , Recém-Nascido , Polônia/epidemiologia , Vigilância da População , Estudos Retrospectivos , Taxa de Sobrevida
17.
Nephrol Dial Transplant ; 21(3): 736-42, 2006 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-16303782

RESUMO

BACKGROUND: The aim of this nationwide analysis was to assess the incidence and current treatment profile of arterial hypertension in children undergoing chronic haemodialysis or peritoneal dialysis and attitudes of paediatric nephrologists towards the choice of antihypertensive drugs in their patients. METHODS: The study group consisted of 134 children (89 males, 45 females, mean age 10.7+/-5 years) from all 13 paediatric dialysis centres in Poland. The data were gathered through a questionnaire for each patient dialysed in November 2004. RESULTS: The overall incidence of hypertension in the study group was 55% (74 of 134 patients; 47 males, 27 females). The incidence rate was similar in boys and girls (53 vs 60%) and in those on haemodialysis and peritoneal dialysis (56 vs 54%). Chronic glomerulonephritis as an underlying renal disease was significantly more frequent in the hypertensive than in the normotensive subjects (37 vs 10%, P = 0.004). Residual urine output was higher in normotensives (41 vs 10 ml/kg body weight; P < 0.001). Among those treated with antihypertensives: 32% were treated by monotherapy, 36% received two drugs, 22% received three drugs, while 7% received > or = 4 drugs. The therapy was effective in only 57% of subjects. We observed no differences in biochemical and clinical parameters between those who responded to the therapy and those who failed to do so. Calcium channel blockers constituted the most frequently administered class of drugs [73% of children; in 43 out of 48 (90%) combined with other drugs, but in 11 out of 24 (46%) as a monotherapy]. In monotherapy, angiotensin-converting enzyme inhibitors and calcium channel blockers were administered most frequently. CONCLUSION: We conclude that the incidence of hypertension in dialysis children in Poland is high (55%). The effectiveness of antihypertensive treatment is rather low (58%) and the choice of drugs is limited.


Assuntos
Anti-Hipertensivos/uso terapêutico , Hipertensão/epidemiologia , Vigilância da População , Diálise Renal/efeitos adversos , Adolescente , Pressão Sanguínea/fisiologia , Criança , Pré-Escolar , Feminino , Humanos , Hipertensão/tratamento farmacológico , Hipertensão/etiologia , Incidência , Falência Renal Crônica/terapia , Masculino , Polônia/epidemiologia , Prevalência , Estudos Retrospectivos , Inquéritos e Questionários
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