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 with a frequency of 22.5%, 37.5%, 3.8%, and 2.5%, respectively. This puts emphasis on the fact that genetics testing should be an early step in the etiological investigation of nephrotic syndrome in infants, as this may have repercussions on future counselling.
Pediatrics. 2007 Apr;119(4):e907-19. Epub 2007 Mar 19.
Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D,
Ozaltin F, Zenker M, Hildebrandt F; Arbeitsgemeinschaft fur Paediatrische
Nephrologie Study Group.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator