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Monogenic Diabetes in a Child with Cystic Fibrosis: A Case Report and Review of the Literature
Cystic fibrosis–related diabetes (CFRD) is associated with worsening pulmonary function, lower body mass index, increased infection frequency, and earlier mortality. While the incidence of CFRD is rising, its development in patients under the age of 10 years is uncommon. We present a 9-year-old girl...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7705871/ https://www.ncbi.nlm.nih.gov/pubmed/33294763 http://dx.doi.org/10.1210/jendso/bvaa165 |
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author | Scully, Kevin J Sawicki, Gregory Kremen, Jessica Putman, Melissa S |
author_facet | Scully, Kevin J Sawicki, Gregory Kremen, Jessica Putman, Melissa S |
author_sort | Scully, Kevin J |
collection | PubMed |
description | Cystic fibrosis–related diabetes (CFRD) is associated with worsening pulmonary function, lower body mass index, increased infection frequency, and earlier mortality. While the incidence of CFRD is rising, its development in patients under the age of 10 years is uncommon. We present a 9-year-old girl with cystic fibrosis (CF) who presented with a 5-year history of nonprogressive hyperglycemia, demonstrated by abnormal oral glucose tolerance tests, glycated hemoglobin A1c (HbA1c) levels consistently >6.5%, and negative pancreatic autoantibodies. Subsequent genetic testing revealed a pathogenic heterozygous recessive mutation in the GCK gene at c.667G>A (p.Gly223Ser), consistent with a diagnosis of GCK-MODY. Significant dysglycemia in young children with CF should raise suspicion for alternative etiologies of diabetes and warrants further investigation. The clinical impact of underlying monogenic diabetes in patients with CF is unclear, and close follow-up is warranted. This case also offers unique insight on the impact of hyperglycemia in the absence of insulin deficiency on CF-specific outcomes. |
format | Online Article Text |
id | pubmed-7705871 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-77058712020-12-07 Monogenic Diabetes in a Child with Cystic Fibrosis: A Case Report and Review of the Literature Scully, Kevin J Sawicki, Gregory Kremen, Jessica Putman, Melissa S J Endocr Soc Case Reports Cystic fibrosis–related diabetes (CFRD) is associated with worsening pulmonary function, lower body mass index, increased infection frequency, and earlier mortality. While the incidence of CFRD is rising, its development in patients under the age of 10 years is uncommon. We present a 9-year-old girl with cystic fibrosis (CF) who presented with a 5-year history of nonprogressive hyperglycemia, demonstrated by abnormal oral glucose tolerance tests, glycated hemoglobin A1c (HbA1c) levels consistently >6.5%, and negative pancreatic autoantibodies. Subsequent genetic testing revealed a pathogenic heterozygous recessive mutation in the GCK gene at c.667G>A (p.Gly223Ser), consistent with a diagnosis of GCK-MODY. Significant dysglycemia in young children with CF should raise suspicion for alternative etiologies of diabetes and warrants further investigation. The clinical impact of underlying monogenic diabetes in patients with CF is unclear, and close follow-up is warranted. This case also offers unique insight on the impact of hyperglycemia in the absence of insulin deficiency on CF-specific outcomes. Oxford University Press 2020-11-02 /pmc/articles/PMC7705871/ /pubmed/33294763 http://dx.doi.org/10.1210/jendso/bvaa165 Text en © The Author(s) 2020. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Case Reports Scully, Kevin J Sawicki, Gregory Kremen, Jessica Putman, Melissa S Monogenic Diabetes in a Child with Cystic Fibrosis: A Case Report and Review of the Literature |
title | Monogenic Diabetes in a Child with Cystic Fibrosis: A Case Report and Review of the Literature |
title_full | Monogenic Diabetes in a Child with Cystic Fibrosis: A Case Report and Review of the Literature |
title_fullStr | Monogenic Diabetes in a Child with Cystic Fibrosis: A Case Report and Review of the Literature |
title_full_unstemmed | Monogenic Diabetes in a Child with Cystic Fibrosis: A Case Report and Review of the Literature |
title_short | Monogenic Diabetes in a Child with Cystic Fibrosis: A Case Report and Review of the Literature |
title_sort | monogenic diabetes in a child with cystic fibrosis: a case report and review of the literature |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7705871/ https://www.ncbi.nlm.nih.gov/pubmed/33294763 http://dx.doi.org/10.1210/jendso/bvaa165 |
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