[Familial LCAT deficiency--clinical picture. Case report].

@article{IdziorWalu2000FamilialLD,
  title={[Familial LCAT deficiency--clinical picture. Case report].},
  author={Barbara Idzior-Waluś and Jacek Sieradzki and Witold Rostworowski and Jadwiga Hartwich and F. Kaczmarski and Maria Dubiel-Bigaj and Wojciech Dąbroś},
  journal={Polskie Archiwum Medycyny Wewnetrznej},
  year={2000},
  volume={104 3},
  pages={591-6}
}
We report a case of familial LCAT deficiency, diagnosed in a 35 year old women. The disease manifested itself by a presence of proteinuria, corneal opacities and haemolytic anaemia with target cells. Suspecion of familial LCAT deficiency was based on renal biopsy, which revealed characteristic serpiginous fibrillar deposits in electron microscopy. The… CONTINUE READING