Posts Categorized: Part 24: KIDNEY



Congenital anomalies of the kidneys and urinary tract and TBX18

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Until a recent publication by Vivante et al, in the American Journal of Human genetics (July 2015, available on-line, in press), genes responsible for Congenital anomalies of the kidneys and urinary tract (CAKUT) were elusive. They identified 4 families with dominant negative mutations in TBX18. The mechanism of pathogenicity is thought to be interference with TBX18 transcriptional […]



Anti–microRNA-21 oligonucleotides prevent Alport nephropathy

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MicroRNA-21 (miR-21) contributes to the pathogenesis of fibrogenic diseases in multiple organs, including the kidneys. Highly specific oligonucleotides that distribute to the kidney and inhibit miR-21 function when administered subcutaneously have been recently developed. In a murine model of Alport nephropathy, miR-21 silencing resulted in milder kidney disease, with minimal albuminuria and dysfunction. miR-21 silencing dramatically improved […]



Infantile nephrotic syndrome

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  Mutations in 4 genes, some only recently identified, are identified as culprits in up to a third of infants with nephrotic syndrome. Nephrotic syndrome presents with proteinuria, hypoalbuminaemia, edema, and hyperlipidemia. This group studied 80 families where nephrotic syndrome presented before a year of age and identified mutations in NPHS1, NPHS2, WT1, and LAMB2 […]