Abstracts tagged "deposition and genetic disorders"

Abstract Number: 1283 • 2018 ACR/ARHP Annual Meeting
Calcium Pyrophosphate Crystal Deposition in a Cohort of 48 Patients with Gitelman Syndrome
Emilie Chotard¹, Anne Blanchard², Gilles Gailly¹, Rosa Vargas-Poussou³ and Hang-Korng Ea^4,5, ¹AP-HP, Hôpital Lariboisière, service de rhumatologie, centre Viggo Petersen, PARIS, France, ²AP-HP, Hôpital Européen Georges Pompidou, Service de néphrologie, PARIS, France, ³AP-HP, Hôpital Européen Georges Pompidou, Service de génétique, PARIS, France, ⁴AP-HP, Hôpital Lariboisière, service de rhumatologie, centre Viggo Petersen, Paris, France, ⁵INSERM UMR1132, Bioscar, University Paris Diderot, PARIS, France
Background/Purpose: Gitelman syndrome (GS) is a rare recessively inherited tubulopathy, caused by inactive mutations in SLC12A3 gene encoding the thiazide-sensitive-sodium-chloride transporter. It is characterized by…

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Abstracts tagged "deposition and genetic disorders"

Calcium Pyrophosphate Crystal Deposition in a Cohort of 48 Patients with Gitelman Syndrome