Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene.

  title={Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene.},
  author={Anthony J. Bleyer and Howard A. Trachtman and Jaspreet Sandhu and Michael C. Gorry and Thomas C. Hart},
  journal={American journal of kidney diseases : the official journal of the National Kidney Foundation},
  volume={42 2},
BACKGROUND Uromodulin (Tamm Horsfall glycoprotein) is the most abundant protein found in normal human urine. Its function has yet to be determined. Identifying mutations in the uromodulin gene may be helpful in understanding the function of uromodulin. There has been 1 report of 4 families suffering from mutations in the uromodulin gene, resulting in the autosomal dominant transmission of hypouricosuric hyperuricemia and chronic renal failure. This case report describes another family with… CONTINUE READING


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