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

ConclusionsOur 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.

Source: Endocrine - March 7, 2018 Category: Endocrinology Source Type: research