A novel pathogenic variant in LCAT causing FLD. A case report.

Nuria Goñi RosRicardo González-TarancónPaula Sienes BailoElvira Salvador-RuperezMartín Puzo BayodJosé Puzo Foncillas

Published in: Acta clinica Belgica (2021)

FLD and FED sharing common biochemical features, and the existence of other diseases with similar clinical profiles underline the need for a timely differential diagnosis aiming to address patients to preventive programs and future available therapies. This case, added to the reduced number of publications previously reported regarding FLD and FED, contributes to better understanding the genetic characteristics, clinical features, and diagnosis of these syndromes.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
public health
peritoneal dialysis
prognostic factors
social media
healthcare
gene expression
dna methylation
health information