Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy.

@article{Wei2012NovelUM,
  title={Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy.},
  author={Xin Wei and Ricong Xu and Zhenhua Yang and Zhijian Li and Yunhua Liao and Richard J Johnson and Xue-qing Yu and Wei Chen},
  journal={American journal of nephrology},
  year={2012},
  volume={36 2},
  pages={114-20}
}
BACKGROUND Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder characterized by early onset of hyperuricemia, decreased fractional renal urate excretion and progressive interstitial nephropathy. Mutations in the uromodulin (UMOD) gene encoding uromodulin/Tamm-Horsfall, a glycosylphosphatidylinositol (GPI)-anchored protein, cause this disease. METHODS One Chinese family with 13 FJHN-affected individuals is described. Clinical data, blood and urine samples of 7… CONTINUE READING
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