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1.
Pediatr Nephrol ; 39(10): 2861-2874, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38517536

RESUMO

Cystinosis is a rare autosomal-recessive lysosomal storage disease that progressively affects multiple organs beginning with the kidneys. Patients require lifelong multidisciplinary care for the management of kidney disease and progressive extra-renal manifestations, and thus, they are especially fragile and vulnerable during transition from pediatric to adult care. Previous documents have provided guidance to help the medical transition of these highly burdened patients. Patients and their families often experience great psychological distress and face significant social challenges; for these reasons, they often need help from psychologists, social workers, and other psychosocial professionals. Due to the rarity of the disease, most psychosocial professionals have no expertise in this disorder and require advice. To this end, a steering committee (SC) composed of six experts, including pediatric nephrologists, psychologists, and social workers with experience in the care for patients with cystinosis, have identified and addressed seven key questions related to psychosocial challenges of the disease and the burden of treatment. Ten additional international experts (the extended faculty, EF) were invited to answer these questions. Since robust evidence is lacking, as in many rare diseases, conclusions were based on collective agreement between members of the SC and the EF, and the consolidated answers were summarized into expert opinion statements. The present document contains information on the concerns and psychosocial burden of patients with cystinosis and of their caregivers, and provides practical advice for timely and appropriate support to facilitate the transition to adult care.


Assuntos
Cistinose , Transição para Assistência do Adulto , Humanos , Cistinose/psicologia , Cistinose/terapia , Cistinose/diagnóstico , Adulto , Adolescente , Cuidadores/psicologia , Criança
2.
Pediatr Nephrol ; 2024 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-38985211

RESUMO

While it is widely accepted that the nutritional management of the infant with chronic kidney disease (CKD) is paramount to achieve normal growth and development, nutritional management is also of importance beyond 1 year of age, particularly in toddlers, to support the delayed infantile stage of growth that may extend to 2-3 years of age. Puberty is also a vulnerable period when nutritional needs are higher to support the expected growth spurt. Inadequate nutritional intake throughout childhood can result in failure to achieve full adult height potential, and there is an increased risk for abnormal neurodevelopment. Conversely, the rising prevalence of overweight and obesity among children with CKD underscores the necessity for effective nutritional strategies to mitigate the risk of metabolic syndrome that is not confined to the post-transplant population. Nutritional management is of primary importance in improving metabolic equilibrium and reducing CKD-related imbalances, particularly as the range of foods eaten by the child widens as they get older (including increased consumption of processed foods), and as CKD progresses. The aim of this review is to integrate the Pediatric Renal Nutrition Taskforce (PRNT) clinical practice recommendations (CPRs) for children (1-18 years) with CKD stages 2-5 and on dialysis (CKD2-5D). We provide a holistic approach to the overall nutritional management of the toddler, child, and young person. Collaboration between physicians and pediatric kidney dietitians is strongly advised to ensure comprehensive and tailored nutritional care for children with CKD, ultimately optimizing their growth and development.

3.
Pediatr Nephrol ; 39(10): 3103-3124, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38570350

RESUMO

Children with chronic kidney disease (CKD) are at risk for vitamin deficiency or excess. Vitamin status can be affected by diet, supplements, kidney function, medications, and dialysis. Little is known about vitamin requirements in CKD, leading to practice variation.The Pediatric Renal Nutrition Taskforce (PRNT), an international team of pediatric kidney dietitians and pediatric nephrologists, was established to develop evidence-based clinical practice points (CPPs) to address challenges and to serve as a resource for nutritional care. Questions were formulated using PICO (Patient, Intervention, Comparator, Outcomes), and literature searches undertaken to explore clinical practice from assessment to management of vitamin status in children with CKD stages 2-5, on dialysis and post-transplantation (CKD2-5D&T). The CPPs were developed and finalized using a Delphi consensus approach. We present six CPPs for vitamin management for children with CKD2-5D&T. We address assessment, intervention, and monitoring. We recommend avoiding supplementation of vitamin A and suggest water-soluble vitamin supplementation for those on dialysis. In the absence of evidence, a consistent structured approach to vitamin management that considers assessment and monitoring from dietary, physical, and biochemical viewpoints is needed. Careful consideration of the impact of accumulation, losses, comorbidities, and medications needs to be explored for the individual child and vitamin before supplementation can be considered. When supplementing, care needs to be taken not to over-prescribe. Research recommendations are suggested.


Assuntos
Suplementos Nutricionais , Transplante de Rim , Diálise Renal , Insuficiência Renal Crônica , Criança , Humanos , Transplante de Rim/efeitos adversos , Estado Nutricional , Diálise Renal/efeitos adversos , Insuficiência Renal Crônica/terapia , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/sangue , Literatura de Revisão como Assunto , Vitaminas/administração & dosagem , Vitaminas/sangue
4.
Blood Press ; 33(1): 2317256, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38407195

RESUMO

BACKGROUND: Healthcare providers are faced with an increasing number of patients with obesity and arterial hypertension. Preventing obesity-associated hypertension and appropriately managing patients with established disease are both important. Hence, the aim of our study was to evaluate the clinical care of patients with obesity and hypertension among ESH Excellence Centres (ECs). METHODS: We conducted a cross-sectional, international 30-item survey through e-mails. RESULTS: In total, 70 representatives of ECs participated (78% men) with 66% of them practicing medicine for more than 30 years and working in well-equipped clinics. Most were internists (41%) and cardiologists (37%) and 73% reported training on the management of obese patients with hypertension. A majority weigh their patients (77%) and evaluate patients for sleep disorders (93%). However, only 47% spend more than 5min to advise for lifestyle modification in general, 59% for weight loss, 56% for salt intake and 64% for exercise. Finally, a minority of participants ask patients if they like their body (6%) or about previous attempts to lose weight (28%), evaluate 24h urinary sodium excretion rate (22%) and provide written (15%) or personalized (10%) dietary advices. If the patient suffers also from type 2 diabetes mellitus, 66% switch treatment to GLP1 receptor agonists and 60% to SGLT2 inhibitors. CONCLUSION: Most clinicians in ESH ECs are well educated regarding obesity-associated hypertension, and clinics are sufficiently equipped to manage these patients, as well. However, several deficits were reported regarding efforts to address and implement obesity specific aspects and interventions to improve care in patients with obesity and hypertension.


Hypertension and obesity still remain two of the main cardiovascular risk factors worldwide.There is a need to lower the incidence of obesity-induced hypertension, and to focus on practical guidelines for the evaluation and management of patients with obesity and hypertension.This is a web-based survey to understand the current clinical practices in assessing/managing patients with obesity and hypertension in ESH Excellence Centres.Most clinicians in ESH ECs are well educated regarding obesity-associated hypertension.Clinics are sufficiently equipped to manage these patients.Several deficits were reported regarding efforts to address and implement obesity specific aspects and interventions to improve care in patients with obesity and hypertension.


Assuntos
Diabetes Mellitus Tipo 2 , Hipertensão , Masculino , Humanos , Feminino , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/terapia , Estudos Transversais , Fatores de Risco , Obesidade/complicações , Hipertensão/etiologia , Hipertensão/terapia
5.
J Ren Nutr ; 2024 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-38866350

RESUMO

The benefits of dietary fiber are widely accepted. Nevertheless, a substantial proportion of children fail to meet the recommended intake of dietary fiber. Achieving adequate fiber intake is especially challenging in children with chronic kidney disease (CKD). An international team of pediatric renal dietitians and pediatric nephrologists from the Pediatric Renal Nutrition Taskforce (PRNT) has developed clinical practice recommendations (CPRs) for the dietary intake of fiber in children and adolescents with CKD. In this CPR paper, we propose a definition of fiber, provide advice on the requirements and assessment of fiber intake, and offer practical guidance on optimizing dietary fiber intake in children with CKD. In addition, given the paucity of available evidence and to achieve consensus from international experts, a Delphi survey was performed in which all the clinical practice recommendations were reviewed.

6.
Prague Med Rep ; 125(1): 62-68, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38380455

RESUMO

Takayasu arteritis is a large vessel vasculitis, characterized by granulomatous inflammation of arterial vessels, that typically affects the aorta, its main branches and pulmonary arteries. Disease diagnosis is a challenge and requires awareness of the condition, as clinical signs can be not specific. We report a case of an adolescent with recurrent stroke diagnosed with Takayasu arteritis. A diagnosis of Takayasu arteritis was established due to angiographic findings in the magnetic resonance angiography in conjunction with systolic blood pressure discrepancy, arterial hypertension and increased acute phase reactants. Takayasu arteritis is a rare cause of ischemic stroke in children. However, stroke may be the first manifestation of the disease. Clinical experience and multidisciplinary approach, including aggressive treatment, is essential for the favourable outcome of the disease and the reduction of the associated morbidity and mortality.


Assuntos
Hipertensão , Arterite de Takayasu , Criança , Humanos , Adolescente , Arterite de Takayasu/complicações , Arterite de Takayasu/diagnóstico , Arterite de Takayasu/tratamento farmacológico , Angiografia por Ressonância Magnética , Infarto Cerebral , Artéria Pulmonar
7.
Curr Hypertens Rep ; 25(9): 231-242, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37639176

RESUMO

PURPOSE OF REVIEW: The goal is to review masked hypertension (MH) as a relatively new phenomenon when patients have normal office BP but elevated out-of-office BP. Firstly, it was described in children in 2004. It has received increased attention in the past decade. RECENT FINDINGS: The prevalence of MH in different pediatric populations differs widely between 0 and 60% based on the population studied, definition of MH, or method of out-of-office BP measurement. The highest prevalence of MH has been demonstrated in children with chronic kidney disease (CKD), obesity, diabetes, and after heart transplantation. In healthy children but with risk factors for hypertension such as prematurity, overweight/obesity, diabetes, chronic kidney disease, or positive family history of hypertension, the prevalence of MH is 9%. In healthy children without risk factors for hypertension, the prevalence of MH is very low ranging 0-3%. In healthy children, only patients with the following clinical conditions should be screened for MH: high-normal/elevated office BP, positive family history of hypertension, and those referred for suspected hypertension who have normal office BP in the secondary/tertiary center.


Assuntos
Hipertensão , Hipertensão Mascarada , Insuficiência Renal Crônica , Humanos , Adolescente , Criança , Hipertensão Mascarada/diagnóstico , Hipertensão Mascarada/epidemiologia , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Fatores de Risco , Obesidade
8.
Pediatr Nephrol ; 38(1): 87-103, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-35378603

RESUMO

The nutritional management of children with chronic kidney disease (CKD) is of prime importance in meeting the challenge of maintaining normal growth and development in this population. The objective of this review is to integrate the Pediatric Renal Nutrition Taskforce clinical practice recommendations for children with CKD stages 2-5 and on dialysis, as they relate to the infant from full term birth up to 1 year of age, for healthcare professionals, including dietitians, physicians, and nurses. It addresses nutritional assessment, energy and protein requirements, delivery of the nutritional prescription, and necessary dietary modifications in the case of abnormal serum levels of calcium, phosphate, and potassium. We focus on the particular nutritional needs of infants with CKD for whom dietary recommendations for energy and protein, based on body weight, are higher compared with children over 1 year of age in order to support both linear and brain growth, which are normally maximal in the first 6 months of life. Attention to nutrition during infancy is important given that growth is predominantly nutrition dependent in the infantile phase and the growth of infants is acutely impaired by disruption to their nutritional intake, particularly during the first 6 months. Inadequate nutritional intake can result in the failure to achieve full adult height potential and an increased risk for abnormal neurodevelopment. We strongly suggest that physicians work closely with pediatric renal dietitians to ensure that the infant with CKD receives the best possible nutritional management to optimize their growth and development.


Assuntos
Diálise Renal , Insuficiência Renal Crônica , Adulto , Lactente , Criança , Humanos , Diálise Renal/efeitos adversos , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/terapia , Avaliação Nutricional , Estado Nutricional , Fenômenos Fisiológicos da Nutrição Infantil
9.
Pediatr Nephrol ; 38(9): 3163-3181, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-36786859

RESUMO

BACKGROUND: Infants with chronic kidney disease (CKD) form a vulnerable population who are highly prone to mineral and bone disorders (MBD) including biochemical abnormalities, growth retardation, bone deformities, and fractures. We present a position paper on the diagnosis and management of CKD-MBD in infants based on available evidence and the opinion of experts from the European Society for Paediatric Nephrology (ESPN) CKD-MBD and Dialysis working groups and the Pediatric Renal Nutrition Taskforce. METHODS: PICO (Patient, Intervention, Comparator, Outcomes) questions were generated, and relevant literature searches performed covering a population of infants below 2 years of age with CKD stages 2-5 or on dialysis. Clinical practice points (CPPs) were developed and leveled using the American Academy of Pediatrics grading matrix. A Delphi consensus approach was followed. RESULTS: We present 34 CPPs for diagnosis and management of CKD-MBD in infants, including dietary control of calcium and phosphate, and medications to prevent and treat CKD-MBD (native and active vitamin D, calcium supplementation, phosphate binders). CONCLUSION: As there are few high-quality studies in this field, the strength of most statements is weak to moderate, and may need to be adapted to individual patient needs by the treating physician. Research recommendations to study key outcome measures in this unique population are suggested. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Doenças Ósseas , Distúrbio Mineral e Ósseo na Doença Renal Crônica , Nefrologia , Insuficiência Renal Crônica , Lactente , Humanos , Criança , Distúrbio Mineral e Ósseo na Doença Renal Crônica/diagnóstico , Distúrbio Mineral e Ósseo na Doença Renal Crônica/etiologia , Distúrbio Mineral e Ósseo na Doença Renal Crônica/terapia , Cálcio/uso terapêutico , Diálise Renal/efeitos adversos , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/terapia , Fosfatos , Minerais
10.
Pediatr Nephrol ; 38(11): 3559-3580, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-36939914

RESUMO

The nutritional management of children with acute kidney injury (AKI) is complex. The dynamic nature of AKI necessitates frequent nutritional assessments and adjustments in management. Dietitians providing medical nutrition therapies to this patient population must consider the interaction of medical treatments and AKI status to effectively support both the nutrition status of patients with AKI as well as limit adverse metabolic derangements associated with inappropriately prescribed nutrition support. The Pediatric Renal Nutrition Taskforce (PRNT), an international team of pediatric renal dietitians and pediatric nephrologists, has developed clinical practice recommendations (CPR) for the nutritional management of children with AKI. We address the need for intensive collaboration between dietitians and physicians so that nutritional management is optimized in line with AKI medical treatments. We focus on key challenges faced by dietitians regarding nutrition assessment. Furthermore, we address how nutrition support should be provided to children with AKI while taking into account the effect of various medical treatment modalities of AKI on nutritional needs. Given the poor quality of evidence available, a Delphi survey was conducted to seek consensus from international experts. Statements with a low grade or those that are opinion-based must be carefully considered and adapted to individual patient needs, based on the clinical judgment of the treating physician and dietitian. Research recommendations are provided. CPRs will be regularly audited and updated by the PRNT.


Assuntos
Injúria Renal Aguda , Rim , Humanos , Criança , Rim/metabolismo , Injúria Renal Aguda/epidemiologia , Apoio Nutricional , Estado Nutricional , Avaliação Nutricional
11.
Pediatr Nephrol ; 38(10): 3389-3399, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-36988689

RESUMO

BACKGROUND: Sodium (Na) balance is unexplored in dialyzed children. We assessed a simplified sodium balance (sNaB) and its correlates in pediatric patients receiving maintenance dialysis. METHODS: Patients < 18 years old on hemodialysis (HD) or peritoneal dialysis (PD) in six European Pediatric Dialysis Working Group centers were recruited. sNaB was calculated from enteral Na, obtained by a 3-day diet diary, Na intake from medications, and 24-h urinary Na (uNa). Primary outcomes were systolic blood pressure and diastolic blood pressure standard deviation scores (SBP and DBP SDS), obtained by 24-h ambulatory blood pressure monitoring or office BP according to age, and interdialytic weight gain (IDWG). RESULTS: Forty-one patients (31 HD), with a median age of 13.3 (IQR 5.2) years, were enrolled. Twelve patients (29.3%) received Na-containing drugs, accounting for 0.6 (0.7) mEq/kg/day. Median total Na intake was 1.5 (1.1) mEq/kg/day, corresponding to 60.6% of the maximum recommended daily intake for healthy children. Median uNa and sNaB were 0.6 (1.8) mEq/kg/day and 0.9 (1.7) mEq/kg/day, respectively. The strongest independent predictor of sNaB in the cohort was urine output. In patients receiving HD, sNaB correlated with IDWG, pre-HD DBP, and first-hour refill index, a volume index based on blood volume monitoring. sNaB was the strongest predictor of IDWG in multiple regression analysis (ß = 0.63; p = 0.005). Neither SBP SDS nor DBP SDS correlated with sNaB. CONCLUSIONS: Na intake is higher than uNa in children on dialysis, and medications may be an important source of Na. sNaB is best predicted by urine output in the population, and it is a significant independent predictor of IDWG in children on HD. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Falência Renal Crônica , Sódio na Dieta , Humanos , Criança , Pré-Escolar , Adolescente , Diálise Renal/efeitos adversos , Falência Renal Crônica/etiologia , Estudos Prospectivos , Monitorização Ambulatorial da Pressão Arterial , Pressão Sanguínea , Sódio , Aumento de Peso
12.
Diabetes Metab Res Rev ; 38(6): e3555, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35675380

RESUMO

AIMS: Cardiovascular disease (CVD) represents the most frequent cause of morbidity and mortality among patients with type 1 diabetes mellitus (T1DM). Our aim was to review the evidence and conduct a meta-analysis assessing measures of arterial stiffness by pulse wave velocity (PWV) and augmentation index (AIx) in children and adolescents with T1DM compared to healthy controls. METHODS: PubMed and the Cochrane Library were searched for relevant studies published up to 10 May 2021. RESULTS: Twenty-one studies were finally included in the meta-analysis. The T1DM group had significantly higher carotid to femoral PWV levels than that of the control group (mean difference [d]: 0.53 CI: 0.35-0.71, P < 0.00001) but with a fair heterogeneity (I 2:73%). By omitting one study with marked heterogeneity, mean difference in cfPWV remained significantly increased in the T1DM group compared to the control group (mean difference [d]: 0.37 CI: 0.27-0.48, P < 0.00001) but with improved heterogeneity (I2 = 26%). Regarding Aix, the T1DM group had a significantly higher AI@75 index than that of the control group (mean difference [d]: 0.28 CI: 0.17-0.39, P < 0.00001) and with no heterogeneity (I 2 = 8%). CONCLUSIONS: Youths with T1DM show increased arterial stiffness, either as increased carotid-femoral pulse wave velocity or increased augmentation index, early in their course of life compared to healthy controls. PROSPERO REGISTRATION NUMBER: CRD42021253236.


Assuntos
Doenças Cardiovasculares , Diabetes Mellitus Tipo 1 , Rigidez Vascular , Adolescente , Artérias Carótidas , Criança , Diabetes Mellitus Tipo 1/complicações , Humanos , Análise de Onda de Pulso
13.
Pediatr Nephrol ; 37(1): 1-20, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34374836

RESUMO

Obesity and metabolic syndrome (O&MS) due to the worldwide obesity epidemic affects children at all stages of chronic kidney disease (CKD) including dialysis and after kidney transplantation. The presence of O&MS in the pediatric CKD population may augment the already increased cardiovascular risk and contribute to the loss of kidney function. The Pediatric Renal Nutrition Taskforce (PRNT) is an international team of pediatric renal dietitians and pediatric nephrologists who develop clinical practice recommendations (CPRs) for the nutritional management of children with kidney diseases. We present CPRs for the assessment and management of O&MS in children with CKD stages 2-5, on dialysis and after kidney transplantation. We address the risk factors and diagnostic criteria for O&MS and discuss their management focusing on non-pharmacological treatment management, including diet, physical activity, and behavior modification in the context of age and CKD stage. The statements have been graded using the American Academy of Pediatrics grading matrix. Statements with a low grade or those that are opinion-based must be carefully considered and adapted to individual patient needs based on the clinical judgment of the treating physician and dietitian. Research recommendations are provided. The CPRs will be periodically audited and updated by the PRNT.


Assuntos
Síndrome Metabólica , Obesidade Infantil , Insuficiência Renal Crônica , Criança , Humanos , Transplante de Rim , Síndrome Metabólica/diagnóstico , Síndrome Metabólica/terapia , Obesidade Infantil/diagnóstico , Obesidade Infantil/terapia , Guias de Prática Clínica como Assunto , Diálise Renal , Insuficiência Renal Crônica/epidemiologia , Insuficiência Renal Crônica/terapia
14.
J Pediatr Hematol Oncol ; 44(8): 471-473, 2022 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-35700406

RESUMO

Frasier syndrome (FS) is a rare condition, caused by splice-site mutations of intron 9 in the Wilms' tumor suppressor gene 1 (WT1 gene). The WT1 protein is essential for urogenital development and patients with 46XY karyotype present with female (FS type 1) or male phenotype, gonadal dysgenesis, progressive glomerulopathy, and high risk of gonadoblastoma. We describe a female patient with an IVS9+4C>T donor splice-site mutation, who underwent a preventive gonadectomy at the age of 6 years due to imaging findings of dysplastic gonads. The biopsy revealed bilateral gonadoblastoma, emphasizing the need for early gonadectomy in 46XY FS patients.


Assuntos
Gonadoblastoma , Neoplasias Ovarianas , Masculino , Feminino , Humanos , Síndrome de Frasier/genética , Síndrome de Frasier/complicações , Gonadoblastoma/genética , Gonadoblastoma/patologia , Mutação , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/cirurgia , Neoplasias Ovarianas/complicações , Castração/efeitos adversos
15.
Eur J Pediatr ; 181(4): 1465-1472, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34988664

RESUMO

Renal involvement is very common in tuberous sclerosis complex (TSC) and is characterized by the development of angiomyolipoma and cysts. The aims of the present study were to assess kidney function and clinical features of renal involvement in TSC, including kidney function and blood pressure (BP) levels in children, adolescents and young adults. Non-selected patients with a definite diagnosis of TSC attending the paediatric neurology outpatient department of a tertiary hospital were included in a cross-sectional study. All participants had a renal imaging study within 6 months of ambulatory blood pressure (BP) and glomerular filtration rate (GFR) assessment. Data on demographics, history, genotype, kidney function at diagnosis and last imaging were collected. Twenty patients were enrolled in this study with a median age of 15 years (IQR range 9 to 18). About 23.5% of the participants had ambulatory hypertension. Systolic BP levels correlated significantly with GFRDTPA values despite the absence of hyperfiltration. Patients that developed hypertension and possibly those with angiomyolipoma or cysts had higher GFR levels in childhood and adolescence. All the patients with ambulatory hypertension had angiomyolipoma or cysts on renal imaging studies. CONCLUSIONS: Hypertension may present with increased frequency in young patients with kidney disease associated with TSC. Routine ambulatory BP measurement should be part of the annual clinical assessment in patients with TSC. WHAT IS KNOWN: • Nearly half of the patients with TSC have a premature decline in their renal function in their fifth decade of life. • Hypertension and hyperfiltration have been proposed as modifiable factors of progression of renal decline in patients with TSC-related renal disease. WHAT IS NEW: • Hypertension is prevalent in youth with tuberous sclerosis complex. • SBP levels have a positive relation with GFR levels within the normal range of GFRDTPA values.


Assuntos
Neoplasias Renais , Esclerose Tuberosa , Adolescente , Pressão Sanguínea , Monitorização Ambulatorial da Pressão Arterial , Criança , Estudos Transversais , Taxa de Filtração Glomerular , Humanos , Neoplasias Renais/complicações , Estudos Retrospectivos , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Adulto Jovem
16.
BMC Pediatr ; 22(1): 549, 2022 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-36109730

RESUMO

BACKGROUND: Sickle cell disease (SCD) is associated with an increased risk of cardiovascular disease that may be due to a variety of possible risk factors, including abnormal blood pressure. Blood pressure (BP) of children and adolescents with SCD has been reported to be lower compared to the BP of the general pediatric population. METHODS: To confirm this prior observation, we compared reference BP values for children with SCD with reference BP values of the general pediatric population. We hypothesized that children with SCD do not have lower BPs than children without SCD. RESULTS: Systolic BP differed for both males and females, over the different age groups between pediatric subjects with and without SCD. Systolic BP was higher in children with SCD, in both obese and non-obese populations. Diastolic BP did not differ between the groups. CONCLUSIONS: Our analysis demonstrated that systolic BP values are indeed higher in children with SCD than in the general pediatric population. This finding is consistent with the most recent literature showing abnormal BP patterns in the SCD pediatric population utilizing 24-hour BP monitoring devices. This is an important step for recognizing abnormal BP as a risk factor for cardio- and neurovascular events in SCD.


Assuntos
Anemia Falciforme , Doenças Cardiovasculares , Adolescente , Anemia Falciforme/complicações , Pressão Sanguínea , Criança , Feminino , Humanos , Masculino , Obesidade/complicações , Fatores de Risco
17.
Nephrol Dial Transplant ; 36(3): 413-425, 2021 02 20.
Artigo em Inglês | MEDLINE | ID: mdl-33245331

RESUMO

Mineral and bone disorder (MBD) is widely prevalent in children with chronic kidney disease (CKD) and is associated with significant morbidity. CKD may cause disturbances in bone remodelling/modelling, which are more pronounced in the growing skeleton, manifesting as short stature, bone pain and deformities, fractures, slipped epiphyses and ectopic calcifications. Although assessment of bone health is a key element in the clinical care of children with CKD, it remains a major challenge for physicians. On the one hand, bone biopsy with histomorphometry is the gold standard for assessing bone health, but it is expensive, invasive and requires expertise in the interpretation of bone histology. On the other hand, currently available non-invasive measures, including dual-energy X-ray absorptiometry and biomarkers of bone formation/resorption, are affected by growth and pubertal status and have limited sensitivity and specificity in predicting changes in bone turnover and mineralization. In the absence of high-quality evidence, there are wide variations in clinical practice in the diagnosis and management of CKD-MBD in childhood. We present clinical practice points (CPPs) on the assessment of bone disease in children with CKD Stages 2-5 and on dialysis based on the best available evidence and consensus of experts from the CKD-MBD and Dialysis working groups of the European Society for Paediatric Nephrology and the CKD-MBD working group of the European Renal Association-European Dialysis and Transplant Association. These CPPs should be carefully considered by treating physicians and adapted to individual patients' needs as appropriate. Further areas for research are suggested.


Assuntos
Biomarcadores/análise , Distúrbio Mineral e Ósseo na Doença Renal Crônica/diagnóstico , Fraturas Ósseas/prevenção & controle , Fidelidade a Diretrizes/normas , Conhecimentos, Atitudes e Prática em Saúde , Guias de Prática Clínica como Assunto/normas , Padrões de Prática Médica/normas , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Nefrologia , Diálise Renal , Adulto Jovem
18.
Nephrol Dial Transplant ; 36(9): 1585-1596, 2021 08 27.
Artigo em Inglês | MEDLINE | ID: mdl-33914889

RESUMO

Distal renal tubular acidosis (dRTA) is characterized by an impaired ability of the distal tubule to excrete acid, leading to metabolic acidosis. Associated complications include bone disease, growth failure, urolithiasis and hypokalaemia. Due to its rarity, there is limited evidence to guide diagnosis and management; however, available data strongly suggest that metabolic control of the acidosis by alkali supplementation can halt or revert almost all complications. Despite this, cohort studies show that adequate metabolic control is present in only about half of patients, highlighting problems with treatment provision or adherence. With these clinical practice points the authors, part of the working groups tubulopathies in the European Rare Kidney Disease Reference network and inherited kidney diseases of the European Society for Paediatric Nephrology, aim to provide guidance for the management of patients with dRTA to facilitate adequate treatment and establish an initial best practice standard against which treatment of patients can be audited.


Assuntos
Acidose Tubular Renal , Acidose , Hipopotassemia , Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/etiologia , Acidose Tubular Renal/terapia , Criança , Estudos de Coortes , Humanos , Hipopotassemia/diagnóstico , Hipopotassemia/etiologia , Rim
19.
Pediatr Nephrol ; 36(4): 809-823, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-32350664

RESUMO

Cerebrovascular disease (stroke) is one of the ten leading causes of death in children and adolescents. Multiple etiologies, from arteriopathies to prothrombic states, can cause stroke in youth. In adult stroke, hypertension has been shown to be the single most important modifiable risk factor. Although hypertension has not been strongly identified as a risk factor in childhood stroke to date, there is preliminary evidence that suggests that hypertension may also be associated with stroke in children. In this review, we summarize the literature that may link hypertension to stroke in the young. We have identified a series of barriers and limitations in the fields of pediatric hypertension and pediatric neurology that might explain why hypertension has been overlooked in childhood stroke. We suggest that hypertension may be a relevant risk factor that, alone or in combination with other multiple factors, contributes to the development of stroke in children. Currently, there are no consensus guidelines for the management of post-stroke hypertension in children. Thus, we recommend that blood pressure be assessed carefully in every child presenting with acute stroke in order to better understand the effects of hypertension in the development and the outcome of childhood stroke. We suggest a treatment algorithm to help practitioners manage hypertension after a stroke.


Assuntos
Hipertensão , Acidente Vascular Cerebral , Adolescente , Adulto , Pressão Sanguínea , Criança , Consenso , Humanos , Hipertensão/complicações , Hipertensão/epidemiologia , Fatores de Risco , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/etiologia
20.
Pediatr Nephrol ; 35(12): 2335-2344, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32661605

RESUMO

BACKGROUND: In recent years, pulse wave velocity (PWV) has emerged as a surrogate marker of cardiovascular disease in children with cardiovascular risk factors. The aims of the present study were to identify determinants of PWV in children according to their weight status and to investigate the role of peripheral blood pressure and central hemodynamic parameters in the association between PWV and obesity. METHODS: We included in the study healthy children and adolescents randomly selected from a school-based blood pressure screening study. All participants underwent ambulatory blood pressure monitoring and 24-h pulse wave analysis. RESULTS: Overweight and obese children had higher 24-h PWV, 24-h peripheral and central systolic blood pressure (SBP), and cardiac output than normal weight ones. Children with both overweight and hypertension presented the highest 24-h PWV values (p < 0.001). Peripheral and central SBP, body mass index (BMI), and hemodynamic parameters, including stroke volume, cardiac output, total peripheral resistance, and cardiac index, were all associated with 24-h PWV. However, in stepwise regression analysis, 24-h peripheral and central SBP and cardiac index, but not BMI, were independent predictors of 24-h PWV. There were statistically significant differences in 24-h blood pressure and hemodynamic parameters among those on the lower and highest 24-h PWV quartile, but there were no significant differences in BMI among 24-h PWV quartile groups. CONCLUSIONS: Arterial stiffness is higher in overweight and obese children in the co-presence of hypertension. Peripheral and central SBP are the main determinants of 24-h PWV independent of weight status. Graphical abstract.


Assuntos
Débito Cardíaco , Hipertensão/complicações , Obesidade Infantil/complicações , Análise de Onda de Pulso , Rigidez Vascular , Adolescente , Monitorização Ambulatorial da Pressão Arterial/métodos , Estudos de Casos e Controles , Criança , Feminino , Hemodinâmica , Humanos , Masculino , Medição de Risco
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