Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identify disease-causing mutations by genome-wide genetic testing.
It is estimated that more than two-thirds of the population in sub-Saharan Africa (SSA) must leave their home to collect water, putting them at risk for a variety of negative health outcomes. There is little research, however, quantifying who is most affected by long water collection times.