Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.

Isabella TabaroGiuseppe ReimondoGiangiacomo OsellaCaterina AuriziPasquale CaraciLuca BarbieriDaniela Francesca GiachinoFabio SirchiaMassimo Terzolo

Published in: Endocrine (2018)

Our case highlights the importance of considering VP in the differential diagnosis of SIAD and underlines the role of genetic screening in the management of such patients. The finding of a novel mutation of PPOX gene in our index case has allowed to recognize an affected family.

Keyphrases

genome wide
abdominal pain
copy number
end stage renal disease
ejection fraction
case report
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
dna methylation
gene expression