Mutations in hepatocyte nuclear factor-1 alpha (HNF1A) as a homeodomain transcription factor which regulates variety of genes, are the most common cause of maturity-onset diabetes of the young (MODY). Detection of HNF1A mutations not only classifies the subtype, but also predicts the likely clinical course and may alters the method of treatment from insulin to the oral sulphonylureas, which is shown to improve glycemic control. The coding and promoter regions of gene were screened for mutations in 34 unrelated Iranian MODY patients. We identified one novel missense mutation (C49G) and two novel polymorphisms and 8 recently identified SNPs in the gene. It is possible that in Iran, other yet to be identified genes are responsible for the familial young onset diabetes. Hence, there is a need for more extensive genetic analyses in Iranian patients with familial young onset diabetes.
Celiac disease is considered a malabsorption syndrome and is characterized by chronic small intestinal disease caused by hypersensitivity to the gliadin fraction of gluten. Celiac disease comes with diarrhea, occasional steatorrhea, weight loss, and other complications which might be caused by anemia. Reports of osteomalacia as the only symptom of celiac disease are very rare; however, osteomalacia can be a detected sign of celiac disease. Herein is described a case of osteomalacia with a Looser zone in a 39-year-old woman who had low bone mineral density caused by severe osteomalacia associated with chronic celiac disease. In patients with pain in the spine and proximal muscle, the risk of osteomalacia should be considered in any kind of diagnosis.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.