Pathogenesis of focal segmental glomerular sclerosis in a girl with the partial deletion of chromosome 6p.

@article{Izu2011PathogenesisOF,
  title={Pathogenesis of focal segmental glomerular sclerosis in a girl with the partial deletion of chromosome 6p.},
  author={Akane Izu and Hidehiko Yanagida and K. Sugimoto and Shinsuke Fujita and Naoki Sakata and Norihisa Wada and Mitsuru Okada and Tsukasa Takemura},
  journal={The Tohoku journal of experimental medicine},
  year={2011},
  volume={223 3},
  pages={187-92}
}
Focal segmental glomerular sclerosis (FSGS) is a leading cause of the nephrotic syndrome and characterized by the sclerosing lesions that affect one or more segments of some glomeruli. We encountered a female patient with a partial deletion of chromosome 6p, who presented proteinuria at age 3 years. Detailed chromosomal analysis disclosed an interstitial deletion of 6p: del(6)(p22.1p22.3). No abnormality such as hydronephrosis or renal agenesis was disclosed by imaging, but FSGS was present in… CONTINUE READING