Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.

Arrate PeredaFrancesca M ElliSuzanne ThieleLuisa de SanctisAnya RothenbuhlerPatrick HannaBruno FrancouDiana Alexandra ErtlGuiomar Perez de NanclaresAgnès LinglartGiovanna Mantovani

Published in: European journal of endocrinology (2021)

The phenotypic analysis of this large cohort confirmed the utility of the major and minor criteria and their combination to diagnose iPPSD. This report shows the importance of having simple and easily recognizable signs to diagnose with confidence these rare disorders and supports a better management of patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
deep learning
double blind