Tuesday, April 10, 2007

Kidney Disease and your Child

This week in the official Journal of the American Academy of Pediatrics a study reveals that at least 2/3rds of nephrotic syndrome in the first year of life is caused by mutations in 4 genes. Those genes are NPHS1, NPHS2, WT1, LAMB2.
What does this mean for The Gene Sherpa? Well, incidentally it was found that these types of nephrotic syndrome are not responsive to steroids (No not the Barry Bonds type!). These medications are really strong types of anti-inflammatory. This is an example of personalized medicine! What would the non-savvy pediatrician do? Treat all nephrotic syndrome with steroids. Why? Because that is what she/he is taught. Unless you followed this literature you would be practicing trial and error medicine!

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