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1.
Arch Bronconeumol (Engl Ed) ; 57(6): 399-405, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34088391

RESUMO

INTRODUCTION: Continuous positive airway pressure (CPAP) is one of the most common therapies for Obstructive Sleep Apnea (OSA). We present a brief, patient-reported outcome measure used to assess patients' levels of adherence with CPAP treatment. METHODS: A questionnaire was developed based on academic literature. We qualitatively tested a pool of 18 items. It was tested in a sample of 174 patients from the Hospital La Princesa. Next, 1021 patients from Catalonia were evaluated. RESULTS: 5 items were removed. Nominal groups referred to three areas: general knowledge about OSA and its risks; CPAP treatment information and expectations; CPAP use, monitoring, and confidence with its use. The 13 retained items maintained the same meaning as the original questionnaire (r=.986; p<.001) and the three proposed dimensions detected a significant increase in general knowledge of OSA (t[173]=8.097, p<.001); CPAP treatment information (t[173]=15.170, p<.001); and CPAP use (t[173]=14.642, p<.001). The final 12-item version was reliable (CRI=.793) and its internal structure was adequate (χ2[51]=72.073; p=.027, CFI=.967, RMSEA=.020 [.000, .030]). Women had a better general knowledge of OSA (t[1,018]=2.190, p=.029), CPAP treatment information (t[1,018]=2.920, p=.004), and higher overall OSA-CPAP scores (t[1,018]=3.093, p=.002). Scores were positively related to quality of life and motivation, adherence was positively related to CPAP use and monitoring, and the total score was negatively related to daytime sleepiness. CONCLUSIONS: The interview could help clinicians prevent some dropouts by targeting patients with lower adherence. It's a tool for assessing patient adherence to CPAP and to promote strategies through education and external motivational stimuli.


Assuntos
Distúrbios do Sono por Sonolência Excessiva , Apneia Obstrutiva do Sono , Pressão Positiva Contínua nas Vias Aéreas , Feminino , Humanos , Cooperação do Paciente , Qualidade de Vida , Apneia Obstrutiva do Sono/terapia
2.
Arch. bronconeumol. (Ed. impr.) ; 57(6): 399-405, Jun. 2021. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-208725

RESUMO

Introducción: La presión positiva continua en la vía aérea (CPAP) es uno de los tratamientos más frecuentes para la apnea obstructiva del sueño (AOS). Presentamos una breve medida de resultados percibidos por el paciente para evaluar los niveles de adhesión de los pacientes al tratamiento con CPAP.Métodos: Se desarrolló un cuestionario basado en la literatura académica. Se ensayó cualitativamente un conjunto de 18 ítems en una muestra de 174 pacientes del Hospital La Princesa (Madrid). A continuación se evaluaron 1.021 pacientes de Cataluña.Resultados: Se eliminaron 5 ítems. Los grupos nominales se refirieron a tres áreas: conocimiento general sobre la AOS y sus riesgos; información y expectativas de tratamiento con CPAP; uso de la CPAP, seguimiento y desenvoltura en su manejo. Los 13 ítems conservados mantuvieron el mismo significado que el cuestionario original (r=0,986; p<0,001) y las tres dimensiones propuestas detectaron un aumento significativo en el conocimiento general de la AOS (t[173]=8,097, p<0,001); información sobre el tratamiento con CPAP (t[173]=15,170, p<0,001); y uso de la CPAP (t[173]=14,642, p<0,001). La versión final de 12 ítems fue fiable (CRI=0,793) y su estructura interna fue adecuada (χ2 [51]=72,073; p=0,027, CFI=0,967, RMSEA=0,020 [0,000, 0,030]). Las mujeres mostraron mejor conocimiento general de la AOS (t[1,018]=2,190, p=0,029), de la información sobre el tratamiento con CPAP (t[1,018]=2,920, p=0,004), y obtuvieron mejores puntuaciones globales en la entrevista OSA-CPAP (t[1,018]=3,093, p=0,002). Las puntuaciones se relacionaron positivamente con la calidad de vida y la motivación, la adhesión se relacionó positivamente con el uso y el seguimiento con CPAP, y la puntuación total se relacionó negativamente con la somnolencia diurna. (AU)


Introduction: Continuous positive airway pressure (CPAP) is one of the most common therapies for Obstructive Sleep Apnea (OSA). We present a brief, patient-reported outcome measure used to assess patients’ levels of adherence with CPAP treatment.Methods: A questionnaire was developed based on academic literature. We qualitatively tested a pool of 18 items. It was tested in a sample of 174 patients from the Hospital La Princesa. Next, 1021 patients from Catalonia were evaluated.Results: 5 items were removed. Nominal groups referred to three areas: general knowledge about OSA and its risks; CPAP treatment information and expectations; CPAP use, monitoring, and confidence with its use. The 13 retained items maintained the same meaning as the original questionnaire (r=.986; p<.001) and the three proposed dimensions detected a significant increase in general knowledge of OSA (t[173]=8.097, p<.001); CPAP treatment information (t[173]=15.170, p<.001); and CPAP use (t[173]=14.642, p<.001). The final 12-item version was reliable (CRI=.793) and its internal structure was adequate (χ2[51]=72.073; p=.027, CFI=.967, RMSEA=.020 [.000, .030]). Women had a better general knowledge of OSA (t[1,018]=2.190, p=.029), CPAP treatment information (t[1,018]=2.920, p=.004), and higher overall OSA-CPAP scores (t[1,018]=3.093, p=.002). Scores were positively related to quality of life and motivation, adherence was positively related to CPAP use and monitoring, and the total score was negatively related to daytime sleepiness. (AU)


Assuntos
Humanos , Pessoa de Meia-Idade , Idoso , Apneia Obstrutiva do Sono , Pressão Positiva Contínua nas Vias Aéreas , Motivação , Cooperação do Paciente , Inquéritos e Questionários , Medidas de Resultados Relatados pelo Paciente
4.
Orphanet J Rare Dis ; 16(1): 104, 2021 02 27.
Artigo em Inglês | MEDLINE | ID: mdl-33639975

RESUMO

BACKGROUND: X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the major manifestations of XLH in children, but there is a broad phenotypic variability. Few publications have reported large series of patients. Current data on the clinical spectrum of the disease, the correlation with the underlying gene mutations, and the long-term outcome of patients on conventional treatment are needed, particularly because of the recent availability of new specific medications to treat XLH. RESULTS: The RenalTube database was used to retrospectively analyze 48 Spanish patients (15 men) from 39 different families, ranging from 3 months to 8 years and 2 months of age at the time of diagnosis (median age of 2.0 years), and with XLH confirmed by genetic analysis. Bone deformities, radiological signs of active rickets and growth retardation were the most common findings at diagnosis. Mean (± SEM) height was - 1.89 ± 0.19 SDS and 55% (22/40) of patients had height SDS below-2. All cases had hypophosphatemia, serum phosphate being - 2.81 ± 0.11 SDS. Clinical manifestations and severity of the disease were similar in both genders. No genotype-phenotype correlation was found. Conventional treatment did not attenuate growth retardation after a median follow up of 7.42 years (IQR = 11.26; n = 26 patients) and failed to normalize serum concentrations of phosphate. Eleven patients had mild hyperparathyroidism and 8 patients nephrocalcinosis. CONCLUSIONS: This study shows that growth retardation and rickets were the most prevalent clinical manifestations at diagnosis in a large series of Spanish pediatric patients with XLH confirmed by mutations in the PHEX gene. Traditional treatment with phosphate and vitamin D supplements did not improve height or corrected hypophosphatemia and was associated with a risk of hyperparathyroidism and nephrocalcinosis. The severity of the disease was similar in males and females.


Assuntos
Raquitismo Hipofosfatêmico Familiar , Doenças Genéticas Ligadas ao Cromossomo X , Hipofosfatemia , Criança , Pré-Escolar , Raquitismo Hipofosfatêmico Familiar/tratamento farmacológico , Raquitismo Hipofosfatêmico Familiar/genética , Feminino , Humanos , Masculino , Mutação/genética , Endopeptidase Neutra Reguladora de Fosfato PHEX/genética , Estudos Retrospectivos
5.
Open Respir Arch ; 3(4): 100132, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-37496843

RESUMO

Introduction: Home respiratory therapies (HRT) are treatments aimed at diseases that are generally chronic and that have a significant impact on the biopsychosocial aspects of patients' lives. No validated patient-reported outcome measures (PROM) and patient-reported experience measures (PREM) are available to assess the impact of these treatments on quality of life (QoL) in HRT. The objective of this work was to identify and validate PROMs and PREMs in HRT. Methods: The process was divided into 5 stages: review of the literature, patient interviews, qualitative validation workshops, cognitive validation, and psychometric validation. For the identification of PROM and PREM, consensus techniques were used with patients, caregivers, specialist doctors, and therapists. The evaluation was based on items that were collected from questionnaires on diseases commonly treated with HRT techniques in clinical practice. The psychometric validation was analyzed by a team of psychologists trained in the methodology. Results: For the literature review, 20 articles met the inclusion and exclusion criteria. After patient interviews, the research team selected 40 PROM items for each treatment from the total of 51 PROM questionnaires found for respiratory diseases. For the validation workshops, the list of selected items had to be reduced to a final number of 15. After the workshops, 8 preliminary questionnaires were drawn up (4 PROMs and 4 PREMs). A second validation round was then held and the questionnaires were modified with the list of PREMs and PROMs resulting from the whole process. The psychometric validation of PROM and PREM questionnaires for each of the therapies consisted of an exploratory factor analysis (EFA) and a confirmatory factor analysis (CFA). Overall, 1299 questionnaires answered by 650 patients were obtained. Conclusions: A preliminary set of PREMs and PROMs associated with HRT with good reliability indexes was developed: Cronbach's alpha and Composite Reliability Index (CRI). These are questionnaires with a 5-point Likert scale that the patient can quickly complete and which provide excellent scores for acceptability, reliability, and validity in psychometric tests. This may offer HRT units a robust basis for better monitoring of patient outcomes and needs and improve healthcare quality and clinical outcomes.


Introducción: Las terapias respiratorias domiciliarias (TRD) son tratamientos dirigidos a patologías, generalmente crónicas, que tienen un impacto significativo en los aspectos biopsicosociales de la vida del paciente. No hay PROM y PREM validados informados por los pacientes para evaluar el impacto de los tratamientos en sí mismos en la calidad de vida (CdV) en la TRD. El objetivo de este trabajo es identificar y validar las PROM y PREM en las TRD. Métodos: Se ha realizado un proceso de cinco etapas: investigación bibliográfica, entrevistas a pacientes, talleres de validación cualitativa, validación cognitiva y validación psicométrica. Para la identificación de PRO y PRE se utilizaron técnicas de consenso con pacientes, cuidadores, médicos especialistas y terapeutas. Se basó en ítems recogidos de cuestionarios relacionados con patologías prevalentes tratadas con TRD y que se utilizan en la práctica clínica. Para la validación psicométrica, un equipo de psicólogos metodólogos realizó los análisis. Resultados: Para la revisión bibliográfica, 20 artículos cumplieron con los criterios de inclusión y exclusión. Después de las entrevistas con los pacientes, el equipo de investigación seleccionó 40 ítems PRO para cada terapia de un total de 51 cuestionarios PRO encontrados para enfermedades respiratorias. Con los talleres de validación se tuvo que reducir la lista de ítems seleccionados a una lista final de 15. Después de los talleres se realizaron 8 cuestionarios preliminares (4 PRO y 4 PRE). Luego de una segunda validación, los cuestionarios fueron modificados con la lista de PRE y PRO resultante de todo el proceso. La validación psicométrica de los cuestionarios PROM y PREM en cada una de las terapias consistió en un análisis factorial exploratorio (EFA) y un análisis factorial confirmatorio (AFC). Se obtuvieron 1.299 cuestionarios respondidos por 650 pacientes. Conclusiones: Se ha desarrollado un primer conjunto de PREM y PROM relacionados con la TRD, con buenos índices de fiabilidad: alfa de Cronbach y Composite Reliability Index (CRI). Se trata de cuestionarios con una escala de 5 puntos Likert que el paciente puede completar rápidamente con excelentes puntuaciones de aceptabilidad, fiabilidad y validez en las pruebas psicométricas. Los servicios de TRD ahora podrían tener una base para un mejor seguimiento de los resultados y las necesidades de los pacientes y, por lo tanto, para mejorar la calidad de la atención médica y los resultados clínicos.

6.
Open Respir Arch ; 3(2): 100088, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-37497068

RESUMO

Introduction: The first-line treatment for obstructive sleep apnoea is (OSA) continuous positive airway pressure (CPAP) therapy, which achieves a high level of efficacy with continuous use. However, daily application of this therapy requires a motivated patient profile, as lack of adherence is the main problem with this therapy. The aim of this study was to determine whether an educational and training program based on motivational interviewing and proper feedback, improved adherence. Methods: A randomized, controlled, single-center trial design was performed. The interventions were standard of care vs MEntA Program based on motivational interview for adherence. The main outcome was the adherence with the CPAP therapy after 90 days of treatment. Secondary outcomes were the motivation, perceived competence, quality of life, sleepiness, emotional state, activities and social relations. Results: For adherence, statistically significant results were obtained in favor of the interventional arm with the MEntA (p < 0.01), with a mean difference of 1.60 h (95% CI, 0.60 to 2.61). The Questionnaire of Evaluation of Perceived Competence in Adherence to CPAP in OSA show also a statistically significant change in favor of the MEntA intervention with a mean difference of 4.61 (95% CI, 3.49 to 5.72) (p < 0.001), as well as quality of life p < 0.001. Conclusions: The MEntA intervention included as part of an educational and training program for patients with OSA with CPAP therapy shows solid results in terms of its efficacy.


Introducción: El tratamiento de primera línea para la apnea obstructiva del sueño (AOS) es la terapia de presión positiva continua en las vías respiratorias (CPAP), que alcanza un alto nivel de eficacia con el uso continuo. Sin embargo, la aplicación diaria de esta terapia requiere un perfil de paciente motivado, ya que la falta de adherencia es el principal problema de esta terapia. El objetivo de este estudio fue determinar si un programa educativo y de capacitación basado en entrevistas motivacionales y una adecuada retroalimentación, mejoró la adherencia. Métodos: Se realizó un diseño de ensayo aleatorizado, controlado y de un solo centro. Las intervenciones fueron el estándar de atención frente al programa MEntA basado en la entrevista motivacional para la adherencia. El outcome principal fue la adherencia a la terapia CPAP después de 90 días de tratamiento. Los outcomes secundarios fueron la motivación, la competencia percibida, la calidad de vida, la somnolencia, el estado emocional, las actividades y las relaciones sociales. Resultados: Para la adherencia se obtuvieron resultados estadísticamente significativos a favor de la intervención con MEntA (p < 0.01), con una diferencia media de 1.60 horas (IC95%, 0.60 a 2.61). El Cuestionario de Evaluación de la Competencia Percibida en Adherencia a CPAP en SAHOS muestra también un cambio estadísticamente significativo a favor de la intervención MEntA con una diferencia media de 4,61 (IC95%, 3,49 a 5,72) (p < 0,001), así como calidad de vida p < 0,001. Conclusiones: La intervención MEntA incluida como parte de un programa educativo y formativo para pacientes con AOS con terapia CPAP muestra sólidos resultados en cuanto a su eficacia.

7.
Pediatr Nephrol ; 34(6): 1077-1086, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30607568

RESUMO

OBJECTIVE: To find out if cardiovascular alterations are present in pediatric patients with X-linked hypophosphatemia (XLH). STUDY DESIGN: Multicentre prospective clinical study on pediatric patients included in the RenalTube database ( www.renaltube.com ) with genetically confirmed diagnosis of XLH by mutations in the PHEX gene. The study's protocol consisted of biochemical work-up, 24-h ambulatory blood pressure monitoring (ABPM), carotid ultrasonography, and echocardiogram. All patients were on chronic treatment with phosphate supplements and 1-hydroxy vitamin D metabolites. RESULTS: Twenty-four patients (17 females, from 1 to 17 years of age) were studied. Serum concentrations (X ± SD) of phosphate and intact parathyroid hormone were 2.66 ± 0.60 mg/dl and 58.3 ± 26.8 pg/ml, respectively. Serum fibroblast growth factor 23 (FGF23) concentration was 278.18 ± 294.45 pg/ml (normal < 60 pg/ml). Abnormally high carotid intima media thickness was found in one patient, who was obese and hypertensive as revealed by ABPM, which disclosed arterial hypertension in two other patients. Z scores for echocardiographic interventricular septum end diastole and left ventricular posterior wall end diastole were + 0.77 ± 0.77 and + 0.94 ± 0.86, respectively. Left ventricular mass index (LVMI) was 44.93 ± 19.18 g/m2.7, and four patients, in addition to the obese one, had values greater than 51 g/m2.7, indicative of left ventricular hypertrophy. There was no correlation between these echocardiographic parameters and serum FGF23 concentrations. CONCLUSIONS: XLH pediatric patients receiving conventional treatment have echocardiographic measurements of ventricular mass within normal reference values, but above the mean, and 18% have LVMI suggestive of left ventricular hypertrophy without correlation with serum FGF23 concentrations. This might indicate an increased risk of cardiovascular involvement in XLH.


Assuntos
Doenças Cardiovasculares/etiologia , Raquitismo Hipofosfatêmico Familiar/complicações , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Adolescente , Criança , Pré-Escolar , Feminino , Fator de Crescimento de Fibroblastos 23 , Humanos , Lactente , Masculino
9.
Arch Esp Urol ; 70(7): 645-653, 2017 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-28891796

RESUMO

OBJECTIVES: Lower Urinary Tract Dysfunction (LUTD) is the most common clinical problem in pediatric urology. To our knowledge non-validated instruments properly designed to screen lower urinary tract symptoms in the pediatric population has been translated and adapted to Spanish population. Pediatric Lower Urinary Tract Symptoms Score (PLUTSS) has proven to be a valid questionnaire for screening and evaluation of the response of children with LUTD to therapy. The aim of this study was to validate the PLUTSS questionnaire into Spanish, and put it to clinical use in pediatric patients, with cross-cultural equivalence to the original version. METHODS: The PLUTSS questionnaire was validated between February 2015 and February 2016. The Spanish version was obtained by using the forward/ back-translation method with expert, bilingual translator, complying with the ISPOR principles. The questionnaire was administered to 80 patients with either lower urinary tract symptoms (40) or without any urological complaints (40). A descriptive statistical analysis of interscale correlation was performed. To confirm reliability, testretest reliability was assessed by intra-class correlation coefficient, and the internal consistency was assessed by Cronbach's alpha coefficient. ROC curve was used to define cutpoint and its validity in discrimination between groups. RESULTS: The median of the two groups was significantly different: 20.53 (patients with LUTD) vs 3.27 (controls). Internal consistence of the 13-item scale (without quality of life item) was high: Cronbach alpha coefficient 0.827. The test-retest analysis of reproducibility showed an intra-class correlation coefficient of 0.997 (95%IC: 0.994-0.999) (p<0.0001). CONCLUSIONS: The Spanish version of the PLUTSS questionnaire has proven to be acceptable and culturally equivalent to the original version. It has a good degree of consistency, validity and reliability. PLUTSS showed a high power to discriminate patients with LUTD.


Assuntos
Autoavaliação Diagnóstica , Sintomas do Trato Urinário Inferior/diagnóstico , Estudos de Casos e Controles , Criança , Pré-Escolar , Características Culturais , Humanos , Traduções
10.
Arch. esp. urol. (Ed. impr.) ; 70(7): 645-653, sept. 2017. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-167026

RESUMO

OBJETIVO: Las Malfunciones del Tracto Urinario Inferior (MTUI) constituyen la patología más frecuente en urología pediátrica. En la actualidad no existe ninguna escala validada para el screening de síntomas del tracto urinario inferior que haya sido traducida y adaptada a la población pediátrica española. La Escala de Síntomas del Tracto Urinario inferior (PLUTSS) ha probado ser un instrumento válido para diagnosticar y monitorizar la respuesta al tratamiento de los niños con MTUI. El objetivo de este estudio es traducir al español y validar el cuestionario PLUTSS adaptándolo culturalmente a la población pediátrica española. MÉTODOS: Estudio descriptivo de validación del cuestionario PLUTSS realizado entre Febrero de 2015 y Febrero de 2016. La versión española se creó mediante el método de traducción-retraducción con traductores expertos bilingües y siguiendo los Principios de la ISPOR (International Society for Pharmacoeconomics and Outcomes Research). El cuestionario fue entregado a 80 pacientes, 40 de ellos con sintomatología del tracto urinario inferior y otros 40 sin ninguna patología urológica. Se realizó un estudio estadístico descriptivo de correlación de escala. Para comprobar la validez de la escala se estudio la fiabilidad del test-retest mediante el coeficiente de correlación de intraclase. La consistencia interna se evaluó con el coeficiente alfa de Cronbach. Se usó además la curva ROC para definir el punto de corte y su validez para discriminar entre los dos grupos de pacientes. RESULTADOS: Hubo diferencias estadísticamente significativas entre las medias de ambos grupos: 20,53 (en los pacientes con MTUI) frente a 3,27 (en los controles). La consistencia interna de los 13 ítems de la escala (sin la pregunta de calidad de vida) fue alta: Coeficiene alfa de Cronbach=0,827. El análisis del test-retest mostró un coeficiente de correlación de intraclase de 0,997 (95% IC: 0,994-0,999) (p < 0,0001). CONCLUSIONES: La versión española del cuestionario PLUTSS ha probado ser aceptable y culturalmente equivalente a la versión original. Esta escala tiene un nivel bueno de consistencia, validez y aplicabilidad. Además la escala PLUTSS ha mostrado un alto poder para detectar pacientes con MTUI


OBJECTIVES: Lower Urinary Tract Dysfunction (LUTD) is the most common clinical problem in pediatric urology. To our knowledge non-validated instruments properly designed to screen lower urinary tract symptoms in the pediatric population has been translated and adapted to Spanish population. Pediatric Lower Urinary Tract Symptoms Score (PLUTSS) has proven to be a valid questionnaire for screening and evaluation of the response of children with LUTD to therapy. The aim of this study was to validate the PLUTSS questionnaire into Spanish, and put it to clinical use in pediatric patients, with cross-cultural equivalence to the original version. METHODS: The PLUTSS questionnaire was validated between February 2015 and February 2016. The Spanish version was obtained by using the forward/ back-translation method with expert, bilingual translator, complying with the ISPOR principles. The questionnaire was administered to 80 patients with either lower urinary tract symptoms (40) or without any urological complaints (40). A descriptive statistical analysis of interscale correlation was performed. To confirm reliability, test-retest reliability was assessed by intra-class correlation coefficient, and the internal consistency was assessed by Cronbach ́s alpha coefficient. ROC curve was used to define cutpoint and its validity in discrimination between groups. RESULTS: The median of the two groups was significantly different: 20.53 (patients with LUTD) vs 3.27 (controls). Internal consistence of the 13-item scale (without quality of life item) was high: Cronbach alpha coefficient 0.827. The test-retest analysis of reproducibility showed an intraclass correlation coefficient of 0.997 (95% IC: 0.994-0.999) (p < 0.0001).CONCLUSIONS: The Spanish version of the PLUTSS questionnaire has proven to be acceptable and culturally equivalent to the original version. It has a good degree of consistency, validity and reliability. PLUTSS showed a high power to discriminate patients with LUTD


Assuntos
Humanos , Masculino , Feminino , Idoso , Fenômenos Fisiológicos do Sistema Urinário , Doenças Urológicas/diagnóstico , Incontinência Urinária/diagnóstico , Enurese Noturna/diagnóstico , Avaliação de Sintomas/instrumentação , Reprodutibilidade dos Testes , Reprodutibilidade dos Testes , Estudos de Casos e Controles
11.
Pediatr Res ; 79(3): 496-501, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26571219

RESUMO

BACKGROUND: Primary distal renal tubular acidosis (DRTA) is a rare disease caused by loss-of-function mutations in at least three genes (ATP6V0A4, ATP6V1B1, and SLC4A1) involved in urinary distal acidification. The next-generation sequencing (NGS) technique facilitates the search for mutations in DRTA patients and helps to characterize the genetic and clinical spectrum of the disease. METHODS: Ten DRTA patients were studied. They had normal serum anion gap (AG), metabolic acidosis with simultaneous positive urinary AG, and inability to maximally acidify the urine. The exons of the three genes were sequenced in two pools by ultrasequencing. Putative mutations were confirmed by corresponding Sanger sequencing of each exon. RESULTS: We found 13 mutations in nine patients. ATP6V0A4: Intron16+2insA; p.R807Q; p.Q276fs; p.P395fs; Intron7-2T>C. ATP6V1B1: p.I386fs; p.R394Q. SLC4A1: p.V245M; p.R589C; p.R589H; p.G609A. One case was a compound heterozygous with a known mutation in ATP6V1B1 (p.G609R) and a pathogenic variation at SLC4A1 (p.E508K). One patient was negative for mutations. CONCLUSION: This study evidences that NGS is labor and cost effective for the analysis of DRTA genes. Our results show for the first time SLC4A1 gene mutations in Spanish patients and disclose that compound heterozygosity at two different genes can be responsible for DRTA.


Assuntos
Acidose Tubular Renal/genética , Acidose Tubular Renal/fisiopatologia , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Equilíbrio Ácido-Base , Acidose/sangue , Criança , Pré-Escolar , Análise Custo-Benefício , Éxons , Feminino , Variação Genética , Heterozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Mutação
12.
Pediatr Nephrol ; 28(8): 1299-305, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23605376

RESUMO

BACKGROUND: There are no guidelines for the removal of a failed renal allograft, and its impact on subsequent dialysis and retransplantation has not yet been described. METHODS: We performed a 10-year review of allograft failure to study the factors that determined an outcome of transplant nephrectomy and choice of subsequent renal replacement therapy in children with or without nephrectomy. RESULTS: A total of 34 children developed graft failure over the 10-year study period, of whom 18 (53 %) required transplant nephrectomy. The median graft survival was 1.1 (range 0.2-10.6) versus 7.5 (1.5-15.0) years in the nephrectomy and non-nephrectomy groups, respectively (p = 0.011). Children with graft failure within 1 year of transplantation were four-fold more likely to require transplant nephrectomy than those with graft failure after 1 year (p = 0.04). Renal biopsy performed at ≤ 8 weeks prior to graft loss showed Banff grade II acute rejection in 13 of the 18 children who required subsequent nephrectomy versus three of the 13 children who did not need nephrectomy (p = 0.01). Inflammation (fever, graft tenderness and raised C-reactive protein (CRP) in the 2 weeks preceding graft failure) was seen in 66 % of nephrectomized children, but not in any in the non-nephrectomy group (p = 0.0003 for CRP between groups). Banff II rejection, an inflammatory response and the time post-transplantation significantly and independently predicted the outcome of nephrectomy (p = 0.008, R (2) = 67 %). Human leukocyte antigen (HLA) antibody levels after graft failure were higher in the nephrectomy group (p = 0.0003), but there was no difference between groups in terms of the presence or class of donor-specific antibodies. Of the children with graft failure, 82 % required dialysis (61 % hemodialysis) and 35 % have to date been successfully retransplanted. CONCLUSIONS: Children with Banff II rejection, an inflammatory response and early graft loss are more likely to require transplant nephrectomy. Nephrectomy may be associated with higher circulating HLA antibody levels.


Assuntos
Rejeição de Enxerto/terapia , Sobrevivência de Enxerto , Transplante de Rim/efeitos adversos , Nefrectomia , Diálise Renal , Doença Aguda , Adolescente , Fatores Etários , Biomarcadores/sangue , Biópsia , Proteína C-Reativa/metabolismo , Criança , Pré-Escolar , Feminino , Rejeição de Enxerto/sangue , Rejeição de Enxerto/imunologia , Rejeição de Enxerto/patologia , Rejeição de Enxerto/cirurgia , Antígenos HLA/sangue , Antígenos HLA/imunologia , Humanos , Lactente , Mediadores da Inflamação/sangue , Isoanticorpos/sangue , Estimativa de Kaplan-Meier , Masculino , Análise Multivariada , Nefrectomia/efeitos adversos , Diálise Renal/efeitos adversos , Reoperação , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Regulação para Cima
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