ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson’s Disease with Adrenocortical Insufficiency
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Molecular Neuroscience"
DOI: 10.1007/s12031-017-0997-7
Abstract: Wilson’s disease (WD) is an autosomal recessive disorder caused by defective function of the copper-transporting ATP7B protein. Symptoms are typically related to the brain and liver, while endocrinologic abnormalities are rare. Here, we reported a… read more here.
Keywords: adrenocortical insufficiency; wilson disease; analysis; mutation ... See more keywords
A case of secondary adrenocortical insufficiency due to isolated adrenocorticotropic hormone deficiency with empty sella syndrome after pembrolizumab treatment in a patient with metastatic renal pelvic cancer
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DOI: 10.1016/j.eucr.2021.101766
Abstract: Pembrolizumab, an anti-programmed death-1 specific monoclonal antibody is a second-line treatment for metastatic urothelial carcinoma. Physicians should be aware of adverse immune-related events associated with the use of immune checkpoint inhibitors, particularly adrenocortical insufficiency, which… read more here.
Keywords: case secondary; treatment; adrenocortical insufficiency; pembrolizumab ... See more keywords