NephMadness 2015: Genetic Nephrology Region
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ARTubulointerstitialNephritis
This is another group of disorders inherited in an autosomal recessive manner that have the typical presentation of a bland urine, minimal hematuria, and minimal proteinuria. They have a pattern of tubulo-interstitial injury on kidney biopsy and are mostly dominated by Nephronophthisis. Several syndromic form exist including Bardert-Biedl, Jeune and Senior-Loken syndromes. Currently 17 NPHP genes have been discovered, which together explain <50% of total cases of AR Tubulo-Interstitial Nephritis.