Científicos de la Facultad de Medicina de la Universidad de Michigan han identificado una causa hasta ahora desconocida de síndrome nefrótico, una grave forma de insuficiencia renal de aparición temprana en niños. Se trata de mutaciones recesivas en el gen de la fosfolipasa C epsilon (PLCE1). Este gen afecta al desarrollo de los podocitos, células especializadas que desempeñan un papel crucial en la capacidad de los riñones para eliminar productos de desecho de la sangre y conservar proteínas sanguíneas importantes.
La investigación se publica en la edición electrónica de "Nature Genetics", en la que los autores recuerdan que la forma temprana de síndrome nefrótico es muy grave y a menudo los niños alcanzan el estadio terminal en el primer año de vida.
Nature Genetics 2006;doi:10.1038/ng1918
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