First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease.

Sophie GreillierLaurent DanielCatherine CaillaudBertrand DussolGuy TouchardJean-Michel GoujonNoémie Jourde-ChicheMickaël Bobot

Published in: BMC medical genetics (2020)

We report and phenotypically describe the first case of a Fabry disease female patient carrying the GLA c.610 T > C variant associated with a renal-predominant clinical presentation.

Keyphrases

case report
replacement therapy
hypertrophic cardiomyopathy
atrial fibrillation