De novo mutation in HNF-1β gene as a cause for Maturity-onset Diabetes of the Young type 5 with sustained hypomagnesemia

Ren, Bo; Chen, Yan; Zhang, Qiang; Chen, Shuwen; Zhang, Shunxiao; Wang, Jie; Zhang, Yan

doi:10.1007/s13410-020-00904-6

Cited by 2 publications

(1 citation statement)

References 11 publications

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“…We manually added an article not identified in the search 45 .There were no controlled trials, and the overall level of evidence was low and the risk of bias high. Tables 4 and 5 show a summary of the data for the 13 articles on HNF1B-diabetes [45][46][47][48][49][50][51][52][53][54][55][56][57] and 10 articles on MD 45,[58][59][60][61][62][63][64][65][66] that reported any treatment response even in single cases, and the prevalent treatment modalities in patient cohorts. The articles represent altogether 293 cases with HNF1B-diabetes and 242 with m.3243A>G MD.…”

Section: What Is the Optimal Glucose Lowering Therapy In The Two Comm...mentioning

confidence: 99%

Systematic Review of Treatment of Beta-Cell Monogenic Diabetes

Naylor

Patel

Kettunen

et al. 2023

Preprint

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Background: Beta-cell monogenic forms of diabetes are the area of diabetes care with the strongest support for a precision medicine approach. We systematically reviewed treatment of hyperglycemia in GCK-related hyperglycemia, HNF1A-diabetes, HNF4A-diabetes, HNF1B-diabetes, Mitochondrial diabetes (MD) due to m.3243A>G variant, 6q24-transient neonatal diabetes (TND) and SLC19A2-diabetes (Thiamine-Responsive Megaloblastic Anemia, TRMA). Methods: Systematic review with data sources from PubMed, MEDLINE and Embase were performed answering specific therapeutic questions for the different subtypes. Individual and group level data was extracted for glycemic outcomes in individuals with genetically confirmed monogenic diabetes. Results: 147 studies met inclusion criteria with only six experimental studies (four randomized trials for HNF1A-diabetes) and the rest being single case reports or cohort studies. Most studies were rated as having moderate or serious risk of bias. For GCK-related hyperglycemia, six studies (35 individuals) showed no deterioration in HbA1c on discontinuing glucose lowering therapy. A randomized trial (n=18 per group) showed that sulfonylureas (SU) were more effective in HNF1A-diabetes than in type 2 diabetes, and cohort and case studies supported SU effectiveness in lowering HbA1c. Two crossover trials (n=15 and n=16) suggested glinides and GLP-1 receptor agonists might be used in place of SU. Evidence for HNF4A-diabetes was limited to three studies (16 individuals) showing lower HbA1c with SU therapy. The 13 studies in HNF1B-diabetes (n=301) and 10 in MD with m.3243A>G variant (n=250) showed that while some patients can be treated with oral agents the majority of patients were insulin treated. In HNF1B-diabetes the attempts to transfer from insulin to oral hypoglycemic agents (OHA) were unsuccessful in most cases. In 6q24-TND there were insufficient studies supporting OHA close to diagnosis before remission but more support for their use after relapse. In SLC19A2-diabetes there was some evidence that treatment with thiamine improved glycemic control and reduced insulin requirement while less than half achieved insulin-independency. Conclusion: There is limited evidence to guide the treatment in monogenic diabetes with most studies being non-randomized and small. The combined data does support: no treatment being needed in GCK-related hyperglycemia; SU being used as the first line treatment in HNF1A-diabetes; SU can be tried in HNF4A-diabetes; insulin often needed in HNF1B-diabetes and MD with the m.3243A>G variant; SU can be tried in 6q24-TND relapse; and thiamine may improve glycemic control in SLC19A2-diabetes. Further evidence, particularly randomized comparative studies, are needed to examine the optimum treatment for glycemic response in all monogenic subtypes.

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Section: What Is the Optimal Glucose Lowering Therapy In The Two Comm...mentioning

confidence: 99%

Systematic Review of Treatment of Beta-Cell Monogenic Diabetes

Naylor

Patel

Kettunen

et al. 2023

Preprint

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Precision treatment of beta-cell monogenic diabetes: a systematic review

Naylor,

Patel,

Kettunen

et al. 2024

Commun Med

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Background Beta-cell monogenic forms of diabetes have strong support for precision medicine. We systematically analyzed evidence for precision treatments for GCK-related hyperglycemia, HNF1A-, HNF4A- and HNF1B-diabetes, and mitochondrial diabetes (MD) due to m.3243 A > G variant, 6q24-transient neonatal diabetes mellitus (TND) and SLC19A2-diabetes. Methods The search of PubMed, MEDLINE, and Embase for individual and group level data for glycemic outcomes using inclusion (English, original articles written after 1992) and exclusion (VUS, multiple diabetes types, absent/aggregated treatment effect measures) criteria. The risk of bias was assessed using NHLBI study-quality assessment tools. Data extracted from Covidence were summarized and presented as descriptive statistics in tables and text. Results There are 146 studies included, with only six being experimental studies. For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterioration. A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than in type 2 diabetes. Cohort and case studies support SU’s effectiveness in lowering HbA1c. Two cross-over trials (each with 15–16 individuals) suggest glinides and GLP-1 receptor agonists might be used in place of SU. Evidence for HNF4A-diabetes is limited. Most reported patients with HNF1B-diabetes (N = 293) and MD (N = 233) are on insulin without treatment studies. Limited data support oral agents after relapse in 6q24-TND and for thiamine improving glycemic control and reducing/eliminating insulin requirement in SLC19A2-diabetes. Conclusion There is limited evidence, and with moderate or serious risk of bias, to guide monogenic diabetes treatment. Further evidence is needed to examine the optimum treatment in monogenic subtypes.

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De novo mutation in HNF-1β gene as a cause for Maturity-onset Diabetes of the Young type 5 with sustained hypomagnesemia

Cited by 2 publications

References 11 publications

Systematic Review of Treatment of Beta-Cell Monogenic Diabetes

Systematic Review of Treatment of Beta-Cell Monogenic Diabetes

Precision treatment of beta-cell monogenic diabetes: a systematic review

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