RESUMEN
This corrects the article DOI: 10.1038/pr.2015.243.
RESUMEN
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.
Asunto(s)
Acidosis Tubular Renal/genética , Acidosis Tubular Renal/fisiopatología , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Equilibrio Ácido-Base , Acidosis/sangre , Niño , Preescolar , Análisis Costo-Beneficio , Exones , Femenino , Variación Genética , Heterocigoto , Humanos , Lactante , Recién Nacido , Masculino , MutaciónRESUMEN
Se determinaron las afectaciones psicológicas de 284 niños y adolescentes expuestos al conflicto armado en una zona rural colombiana, seleccionados mediante un muestreo aleatorio por afijación proporcional. Los instrumentos aplicados fueron: la Lista de chequeo de comportamiento infantil, el Auto-reporte de comportamientos de jóvenes, la Lista de síntomas postraumáticos, la Escala de estrategias de afrontamiento para adolescentes y la Escala de resiliencia para escolares. El 72% de la población presentó afectaciones psicológicas: el 64.4%, conductas internalizadas, el 47%, conductas externalizadas en rango clínico. El 32%, problemas somáticos; el 56%, se encontraba en riesgo de estrés postraumático, y el 93% consumía alcohol en grado moderado. La estrategia de afrontamiento más utilizada era dejar que las cosas se arreglaran solas. Se encontró una alta necesidad de atención en salud. Ser hombre constituyó un factor de riesgo de depresión, agresión y problemas sociales en los niños. A su vez, tener hasta doce años y estar cursando un grado escolar bajo, lo fue para los síntomas somáticos en adolescentes. Los resultados evidenciaron la afectación en la salud mental de los participantes.
Psychological effects were determined in 284 children and adolescents exposed to armed conflict in a rural area of Colombia, selected through random sampling proportional allocation. The instruments applied were: The Child Behavior Checklist, the Youth Behavior Self-report, the Trauma Symptoms Checklist for Children, the Coping Scale for Adolescents and the Resilience Scale for School Children. Findings showed that 72% of the population suffers from psychological problems, 64.4 from internalizing behavior and 47% from externalizing behavior within clinical range. It was also found that 32% had somatic problems, 56% were at risk for PTSD and 93% had moderate alcohol consumption. The most frequently used coping strategy was to leave things get fixed by themselves. There was a high need for health care. Being male constituted a risk factor for depression, aggression and social problems in children. In turn, being up to12 years old and a student of a lower grade were risk factors for somatic symptoms in adolescents. Results clearly revealed the impact on mental health of the population under study.
Determinaram-se as afetações psicológicas de 284 crianças e adolescentes expostos ao conflito armado em uma zona rural colombiana, selecionados mediante uma amostragem aleatória. Os instrumentos aplicados foram: a Lista de checagem de comportamento infantil, a autoavaliação de comportamentos de jovens, a Lista de sintomas pós-traumáticos, a Escala de estratégias de enfrentamento para adolescentes e a Escala de resiliência para escolares. 72% da população apresentou afetações psicológicas: 64.4%, condutas internalizadas, 47%, condutas externalizadas. 32%, problemas somáticos; 56%, se encontrava em risco de estresse pós-traumático, e 93% consumia álcool de forma moderada. A estratégia de enfretamento mais utilizada era deixar que as coisas se resolvessem sozinhas. Foi encontrada uma alta necessidade de atenção em saúde. Ser homem constituiu um fator de risco de depressão, agressão e problemas sociais. Ao mesmo tempo que ter até doze anos e estar cursando uma série escolar baixa, foi para os sintomas somáticos em adolescentes. Os resultados evidenciaram a afetação da saúde mental dos participantes.