2022
DOI: 10.24953/turkjped.2021.1613
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A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis

Abstract: Background. Heterozygous intragenic mutations of the hepatocyte nuclear factor 1 homeobox b gene (HNF1B) located on chromosome 17 and microdeletion of 17q12 region (17q12MD) leads to the complete loss of this gene, which causes renal cystic disease, diabetes mellitus (MODY5), hypomagnesemia, hyperuricemia, liver enzyme abnormalities, genital tract abnormalities and exocrine pancreatic insufficiency. In addition, patients with 17q12MD also have facial dysmorphism, neuro-developmental and neuropsychiatric disord… Show more

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Cited by 3 publications
(1 citation statement)
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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%
“…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%