Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis.

BACKGROUND: Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder caused by impaired distal mechanisms of urinary acidification. Most cases are secondary to pathogenic variants in ATP6V0A4, ATP6V1B1, and SLC4A1 genes, which encode transporters regulating acid-base balance in the collecting duct. METHODS: Retrospective study of molecular and clinical data from diagnosis and long-term follow-up (10, 20, and 40±10 years) of 16 patients with primary dRTA diagnosed in childhood. RESULTS: Molecular analyses revealed nine patients had ATP6V0A4 pathogenic variants, five in ATP6V1B1, and two in SLC4A1. A novel intragenic deletion and a common ATP6V0A4 gene variant (c.1691 + 2dupT) in ATP6V0A4 occurred in two-thirds of these patients, suggesting a founder effect. Median age at diagnosis was 3.25 months (IQR 1, 13.5), which was higher in the SLC4A1 group. Median SDS height at diagnosis was -1.02 (IQR -1.79, 0.14). Delayed clinical diagnosis was significantly related to growth failure (P = 0.01). Median SDS height at 20 years follow-up was -1.23 (IQR -1.71, -0.48), and did not significantly improve from diagnosis (P = 0.76). Kidney function declined over time: at last follow-up, 43% had moderate to severe chronic kidney disease (CKD). Adequate metabolic control was not related to CKD development. Incidence of sensorineural hearing loss (SNHL) was high in ATP6V1B1 patients, though not universal. Patients harboring ATP6V0A4 variants also developed SNHL at a high rate (80%) over time. CONCLUSIONS: Patients with dRTA can develop moderate to severe CKD over time with a high frequency despite adequate metabolic control. Early diagnosis ameliorates long-term height prognosis.

Jóvenes y participación electoral en Chile 1989-2013. Analizando el efecto del voto voluntario / Young people and electoral participation in Chile 1989-2013: analyzing the effect of the voluntary vote / Jovens e participação eleitoral no Chile 1989-2013: analisando o efeito do voto voluntário

Según sus promotores, la adopción del voto voluntario en Chile produciría un aumento en la participación electoral y un mayor involucramiento de los jóvenes en política. Sin embargo, los resultados de las últimas elecciones presidenciales mostraron todo lo contrario. La participación se redujo a niveles históricos y los jóvenes siguen siendo el grupo con menor predisposición a votar. En un país donde la pobreza ha retrocedido, pero los niveles de desigualdad prácticamente no han variado, la introducción del voto voluntario ha profundizado no sólo el sesgo etario, sino que también el denominado sesgo de clase en el voto. Es decir, que las personas con mayores ingresos votan más que las de menos ingresos. Probamos estas hipótesis con datos individuales de las encuestas de la Universidad Diego Portales (UDP) y con datos electorales desagregados hasta el nivel comunal.

According to its promoters, the adoption of the voluntary vote in Chile would produce an increase in electoral participation and a greater involvement of the young in politics. However, the results of the last presidential elections evidenced quite the contrary. Participation was reduced to historic levels and the young continue to be the group with least predisposition to vote. In a country where poverty has shrunk, but the levels of inequality have remained virtually unchanged, the introduction of the voluntary vote has deepened not only the age bias, but also the so-called class bias in the vote. That is, the people with the highest income vote more than the ones with the lowest income. We tested these hypotheses with individual data from the opinion polls by the Universidad Diego Portales (UDP) and with electoral data broken down to the communal level.

Segundo seus promotores, a adoção do voto voluntário no Chile produziria o aumento da participação eleitoral e um envolvimento maior dos jovens na política. No entanto, os resultados das últimas eleições presidenciais mostraram o contrário. A participação foi reduzida a níveis históricos e os jovens continuam sendo o grupo que apresenta menos disposição para votar. Num país onde a pobreza retrocedeu, mas os níveis de desigualdade praticamente não variaram, a introdução do voto voluntário aprofundou não somente no viés etário, mas também no denominado viés de classe do voto. Isto é, as pessoas com maior renda votam mais do que as pessoas com menor renda. Provamos essas hipóteses com dados individuais tomados de pesquisas da Universidad Diego Portales (UDP) e com dados eleitorais distribuídos até o nível comunal.