Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis
BackgroundMaturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B (HNF1B) gene.Case PresentationWe reported a case of MODY5, which presented with diabetic ketosis, multiple renal cysts, and hypokalemia. In...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-08-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2022.917819/full |
| _version_ | 1811220981404925952 |
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| author | Shenghui Ge Mengge Yang Mengge Yang Wenfeng Gong Wenzhe Chen Jianjun Dong Lin Liao Lin Liao |
| author_facet | Shenghui Ge Mengge Yang Mengge Yang Wenfeng Gong Wenzhe Chen Jianjun Dong Lin Liao Lin Liao |
| author_sort | Shenghui Ge |
| collection | DOAJ |
| description | BackgroundMaturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B (HNF1B) gene.Case PresentationWe reported a case of MODY5, which presented with diabetic ketosis, multiple renal cysts, and hypokalemia. In this case, the HNF1B score was estimated as 13 and a heterozygous variant of HNF1B in exon 4 (c.826C>T, p.Arg276*) was identified through Sanger sequencing.ConclusionsMultiple renal cysts and youth-onset diabetes are common manifestations in patients with HNF1B mutations, and insufficient insulin secretion may be a potential cause of diabetic ketosis in MODY5. |
| first_indexed | 2024-04-12T07:50:58Z |
| format | Article |
| id | doaj.art-423b9d7a9e13418e9299647eb0ad7454 |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-04-12T07:50:58Z |
| publishDate | 2022-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-423b9d7a9e13418e9299647eb0ad74542022-12-22T03:41:35ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922022-08-011310.3389/fendo.2022.917819917819Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosisShenghui Ge0Mengge Yang1Mengge Yang2Wenfeng Gong3Wenzhe Chen4Jianjun Dong5Lin Liao6Lin Liao7Department of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Ji-nan, ChinaDepartment of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Ji-nan, ChinaCheeloo College of Medicine, Shandong University, Department of Endocrinology and Metabology, Shandong Provincial Qianfoshan Hospital, Shandong Key Laboratory of Rheumatic Disease and Translational medicine, Shandong Institute of Nephrology, Ji-nan, ChinaDepartment of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Ji-nan, ChinaDepartment of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Ji-nan, ChinaDivision of Endocrinology, Department of Internal Medicine, Qilu Hospital of Shandong University, Ji-nan, ChinaDepartment of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Ji-nan, ChinaCheeloo College of Medicine, Shandong University, Department of Endocrinology and Metabology, Shandong Provincial Qianfoshan Hospital, Shandong Key Laboratory of Rheumatic Disease and Translational medicine, Shandong Institute of Nephrology, Ji-nan, ChinaBackgroundMaturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B (HNF1B) gene.Case PresentationWe reported a case of MODY5, which presented with diabetic ketosis, multiple renal cysts, and hypokalemia. In this case, the HNF1B score was estimated as 13 and a heterozygous variant of HNF1B in exon 4 (c.826C>T, p.Arg276*) was identified through Sanger sequencing.ConclusionsMultiple renal cysts and youth-onset diabetes are common manifestations in patients with HNF1B mutations, and insufficient insulin secretion may be a potential cause of diabetic ketosis in MODY5.https://www.frontiersin.org/articles/10.3389/fendo.2022.917819/fullMODY5HNF1Bcasemutationdiagnosisrenal cysts and diabetes syndrome |
| spellingShingle | Shenghui Ge Mengge Yang Mengge Yang Wenfeng Gong Wenzhe Chen Jianjun Dong Lin Liao Lin Liao Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis Frontiers in Endocrinology MODY5 HNF1B case mutation diagnosis renal cysts and diabetes syndrome |
| title | Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis |
| title_full | Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis |
| title_fullStr | Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis |
| title_full_unstemmed | Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis |
| title_short | Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis |
| title_sort | case report a case of hnf1b mutation patient with first presentation of diabetic ketosis |
| topic | MODY5 HNF1B case mutation diagnosis renal cysts and diabetes syndrome |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2022.917819/full |
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