- Mutation Screening of HNF-1alpha Gene in Korean Women with Gestational Diabetes Mellitus.
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Hun Sung Kim, Sun Hee Hwang, Eun Sun Choi, So Young Park, Chang Hoon Yim, Ki Ok Han, Hyun Koo Yoon, Ho Yeon Chung, Kyung Seon Kim, Jeong Bok, Jong Young Lee, Sung Hoon Kim
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Korean Diabetes J. 2008;32(1):38-43. Published online February 1, 2008
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DOI: https://doi.org/10.4093/kdj.2008.32.1.38
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- BACKGROUND
S: Gestational diabetes mellitus (GDM) is defined as glucose intolerance with onset or first detection during pregnancy and mostly caused by insulin resistance and beta-cell dysfunction like type 2 diabetes. However, autoimmune or monogenic diabetes can contribute to GDM. Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by an early age of onset and an autosomal dominant pattern of inheritance. Most MODY cases are attributable to mutations in HNF-1alpha gene, also known as MODY3. We investigated whether mutations in HNF-1alpha gene are present in Korean women with GDM. METHODS: A total of 96 Korean women with GDM who have a family history of DM were screened for mutations in the HNF-1alpha gene. We evaluated the clinical characteristics of GDM women with HNF-1alpha gene mutations. RESULTS: Five of 96 patients (5.2%) were found to have a mutation in HNF-1alpha gene. Four of those (-23C > G, 833G > A (Arg278Gln), 923C > T, IVS5 + 106A > G) were novel and one (-124G > C) in promoter region was reported in previous study. The mean age of GDM women with mutations of HNF-1alpha gene was 34 years. Four women with MODY3 gene mutations required insulin therapy during pregnancy. GDM women with MODY3 gene mutations appeared to be decreased insulin secretion (HOMA-%B) than those without mutations. CONCLUSIONS: We have found the existence of MODY3 as well as novel HNF-1alpha gene mutations in Korean women with GDM.
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Citations
Citations to this article as recorded by  - Update on Monogenic Diabetes in Korea
Ye Seul Yang, Soo Heon Kwak, Kyong Soo Park
Diabetes & Metabolism Journal.2020; 44(5): 627. CrossRef - Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know?
Sung-Hoon Kim
Diabetes & Metabolism Journal.2015; 39(6): 468. CrossRef
- A Case of Concurrent Emphysematous Pyelonephritis and Emphysematous Cholecystitis in a Patient with Diabetes Mellitus.
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Se Hyung Lee, Ji Hoon Kim, Jong Young Lee, Tae Hyuck Choi, Gil Hyun Gang, Myoung Sook Shim, Jin Yub Kim
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Korean Diabetes J. 2005;29(3):262-266. Published online May 1, 2005
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Abstract
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- Several unusual infections such as malignant otitis externa, rhinocerebral mucormycosis, emphysematous pyelonephritis and emphysematous cholecystitis exclusively occur in diabetic patients. Each of these diseases is a rare, but potentially life-threatening infection. Therefore, prompt diagnosis and early medical and operative intervention will be necessary for these diseases. We report herein a very rare case in which emphysematous pyelonephritis and emphysematous cholecystitis were simultaneously diagnosed. A 45-year-old man, who was previously diagnosed with secondary diabetes mellitus due to chronic alcoholic pancreatitis ten years earlier, presented with fever and right upper quadrant abdominal pain for 3 days. Abdominal computed tomography showed an air-fluid level in the lumen of the gall bladder and there was gas collection within the right renal parenchyma. Broad-spectrum antibiotics therapy was initiated and cholecystectomy and right nephrectomy were performed. Escherichia coli bacteria were isolated from the culture of the blood, urine and sputum. The patient recovered and was discharged in a healthy state
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