Tuesday, June 14, 2016

Behavioural abnormalities and Mutations in children with CKD

We very commonly see children with CKD and ESRD with behavioural problems and autistic features and CAKUT. Current issue of Kidney International nicely shows the 17q12 deletions but not HNF1B intragenic mutations are associated with neurodevelopmental disorders.

Otherwise, Heterozygous mutations of the HNF1B gene are the commonest known monogenic cause of developmental kidney disease.

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