Mahvash Disease: Pancreatic Neuroendocrine Tumor Syndrome Caused by Inactivating Glucagon Receptor Mutation
- Corresponding Author:
- Run Yu
MD, PhD, Division of Endocrinology and Carcinoid and Neuroendocrine Tumor Center
Cedars-Sinai Medical Center, B-1318700
Beverly Blvd, Los Angeles, California 90048, USA
E-mail: [email protected]
Received Date: September 13, 2013; Accepted Date: October 23, 2013; Published Date: October 28, 2013
Citation: Lucas MB, Yu VE, Yu R (2013) Mahvash Disease: Pancreatic Neuroendocrine Tumor Syndrome Caused by Inactivating Glucagon Receptor Mutation. J Mol Genet Med 7:84. doi:10.4172/1747-0862.1000084
Copyright: © 2013 Lucas MB, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Mahvash disease is a novel pancreatic neuroendocrine tumor syndrome caused by inactivating glucagon receptor mutations. Its discovery was triggered by comparison of a patient with pancreatic neuroendocrine tumors, pancreatic α cell hyperplasia, extreme hyperglucagonemia but without glucagonoma syndrome, and occasional hypoglycemia, with the glucagon receptor knockout mice which exhibit similar phenotype and ultimately prove to be a model of Mahvash disease. So far 6 cases have been reported. The inheritance, prevalence, pathogenesis, natural history, diagnosis, treatment, and long-term follow-up of Mahvash disease are discussed in this article. Although rare, Mahvash disease provides important insights into the pathogenesis of pancreatic neuroendocrine tumors, pancreatic α cell fate regulation by glucagon signaling, and safety of glucagon signaling inhibition for diabetes treatment.