Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis.

BACKGROUND: Pulmonary alveolar microlithiasis (PAM) is caused by genetic variants in the SLC34A2 gene, which encodes the sodium-dependent phosphate transport protein 2B (NaPi-2b). PAM is characterised by deposition of calcium phosphate concretions (microliths) in the alveoli leading to pulmonary dysfunction. The variant spectrum of SLC34A2 has not been well investigated and it is not yet known whether a genotype-phenotype correlation exists. METHODS: We collected DNA from 14 patients with PAM and four relatives, and analysed the coding regions of SLC34A2 by direct DNA sequencing. To determine the phenotype characteristics, clinical data were collected and a severity score was created for each variant, based on type and localisation within the protein. RESULTS: We identified eight novel allelic variants of SLC34A2 in 14 patients with PAM. Four of these were nonsense variants, three were missense and one was a splice site variant. One patient was heterozygous for two different variants and all other patients were homozygous. Four patients were asymptomatic and 10 patients were symptomatic. The severity of the disease was associated with the variant severity. CONCLUSIONS: Our findings support a significant role for SLC34A2 in PAM and expand the variant spectrum of the disease. Thus, SLC34A2 variants were detected in all patients and eight novel allelic variants were discovered. An association between disease severity and the severity of the variants was found; however, this needs to be investigated in larger patient populations.

Tratamiento de la discinecia ciliar primaria / Treatmen of ciliary primary discinesia

At present, there is no specific treatment for primary ciliary dyskinesia, nor controlled and randomized clinical trials to determine how the management and monitoring of these patients should be considered. The therapeutic options are extrapolated from other diseases, such as cystic fibrosis, or non-cystic fibrosis bronchiectasis. However, the implementation of specific groups of experts, both in the USA (PDC-foundation) and in Europe (BESTCILIA or BEAT-PD), are helping to increase knowledge of the disease, opening research channels and seeking new treatments. Until we have therapies capable of correcting the basic defect of the disease, the pillars of treatment are the daily cleansing of the airways and aggressive antibiotherapy against respiratory infections. Multidisciplinary care in specialized centers where pulmonary function is monitored and the infection is prevented and treated will improve, as in cystic fibrosis, the results of patients.

En la actualidad no existe un tratamiento específico para la discinesia ciliar primaria, ni se cuenta con ensayos clínicos controlados y randomizados que permitan determinar cómo debe plantearse el manejo y seguimiento de estos pacientes. Las opciones terapéuticas son extrapoladas de otras enfermedades, como la fibrosis quística, o las bronquiectasias no fibrosis quística. Sin embargo, la puesta en marcha de grupos específicos de expertos, tanto en USA (PDC-foundation) como en Europa (BESTCILIA o BEAT-PD), están permitiendo incrementar el conocimiento de la enfermedad, abriendo vías de investigación y buscando nuevos tratamientos. Hasta contar con terapias capaces de corregir el defecto básico de la enfermedad, los pilares del tratamiento son la limpieza diaria de las vías aéreas y la antibioterapia agresiva frente a las infecciones respiratorias. La atención multidisciplinar en centros especializados donde se monitorice la función pulmonar y se prevengan y traten las infecciones mejorará, como en la fibrosis quística, los resultados de los pacientes.

Malestar emocional en los familiares de adolescentes con asma bronquial: análisis de sus predictores / Emotional distress in family caregivers of adolescents with bronchial asthma: analysis of its predictors

Introducción. Los adolescentes asmáticos se enfrentan a problemas propios de la etapa a los que se añaden asumir el control de su enfermedad, el cumplimiento de un tratamiento diario y de los controles médicos periódicos. El posible rechazo que esto genere puede conducir a la no adherencia terapéutica y al mal control del asma, lo que ocasiona problemas en la dinámica familiar, agravados por el estrés o el malestar emocional que esta situación provoca en los cuidadores. Objetivo. Identificar perfiles de adaptación y detectar predictores de riesgo para el bienestar emocional de los cuidadores de pacientes pediátricos con asma bronquial. Material y métodos. 79 cuidadores familiares de pacientes pediátricos con asma bronquial. Se utilizan instrumentos para evaluar la clínica psicológica emocional (Hospital Anxiety and Depression, HADS) y el nivel de estrés percibido asociado al cuidado médico de un paciente pediátrico (Pediatric Inventory for Parents, PIP). Se analiza el papel de las variables médicas del paciente y las psicológicas del cuidador familiar relativas a su malestar emocional y estrés. Resultados. 34,8% de los cuidadores presenta sintomatología ansiosa y estrés percibido moderado. La sintomatología emocional se relaciona positiva y significativamente con el nivel de estrés. Los modelos que mejor predicen el malestar emocional de los cuidadores (4050% de varianza explicada) incluyen como predictores indicadores de estrés, tiempo desde el diagnóstico y carga terapéutica del paciente. Conclusiones. La presencia de estrés derivado del cuidado, el tiempo de exposición y la carga de los tratamientos asociados a la enfermedad se identificaron como los principales predictores de riesgos para el bienestar del cuidador.

Introduction. Adolescents with asthma face problems inherent to this stage in their development, to which the challenges of taking over control of their disease, complying with a daily treatment and regular medical followup are added. Any rejection generated by this may lead to treatment non-adherence and poor asthma control, which brings about problems in family dynamics, made worse by the stress or the emotional distress that this situation causes in caregivers. Objective. Identify adjustment profiles and predictors of risk for the well-being of caregivers of pediatric patients with bronchial asthma. Material and methods. Seventy-nine family caregivers of pediatric patients with bronchial asthma. Instruments were used to assess the emotional status (Hospital Anxiety and DepressionScale, HADS) and the perceived level of stress associated with medical care of a pediatric patient (Pediatric Inventory for Parents, PIP). We analyzed the patient's medical outcome measures and the family caregiver's psychological outcome measures regarding their emotional distress and stress. Results. Of all caregivers studied, 34.8% exhibit anxiety symptomatology and moderate perceived stress. Emotional symptomatology correlates positively and significantly with the stress level. The models that best predict emotional distress of caregivers (40-50% of explained variance) include time since diagnosis and patient's treatment burden as stress indicators. Conclusions. The presence of stress resulting from care, time of exposure and burden of treatments associated with the disease are identified as the main predictors of risk for the well-being of caregivers.