Genotype-phenotype associations in WT1 glomerulopathy.

@article{Lipska2014GenotypephenotypeAI,
  title={Genotype-phenotype associations in WT1 glomerulopathy.},
  author={Beata Stefania Lipska and Bruno Ranchin and Paraskevas Iatropoulos and Jutta Gellermann and Anette Melk and Fatih Ozaltin and Gianluca Caridi and Tom{\'a}{\vs} Seeman and K{\'a}lm{\'a}n Tory and Augustina Jankauskienė and Aleksandra M. Zurowska and Maria Szczep{\'a}nska and Anna Wasilewska and J{\'e}r{\^o}me Harambat and Agnes Trautmann and Amira Peco-Anti{\'c} and Halina Borzęcka and Anna Moczulska and Bassam Saeed and Radovan Bogdanovi{\'c} and Mukaddes Kalyoncu and Eva Simkov{\'a} and Ozlem Erdoğan and Kristina Vrljicak and Ana Julia Teixeira and Marta A. Azocar and Franz S. Schaefer},
  journal={Kidney international},
  year={2014},
  volume={85 5},
  pages={1169-78}
}
WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype correlations of 61 patients with WT1-related steroid-resistant nephrotic syndrome relative to 700 WT1-negative patients, all with steroid-resistant nephrotic syndrome. WT1 patients more frequently presented with chronic kidney disease and hypertension at diagnosis and exhibited more rapid disease progression. Focal segmental… CONTINUE READING

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