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ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent
BACKGROUND: Identifying cases of diabetes caused by single gene mutations between the more common type 1 diabetes (T1D) and type 2 diabetes (T2D) is a difficult but important task. We report the diagnosis of ATP-binding cassette transporter sub-family C member 8 (ABCC8)-related monogenic diabetes in...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Association of Clinical Endocrinology
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10382606/ https://www.ncbi.nlm.nih.gov/pubmed/37520758 http://dx.doi.org/10.1016/j.aace.2023.04.001 |
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author | Grier, Alexandra E. McGill, Janet B. Lord, Sandra M. Speake, Cate Greenbaum, Carla Chamberlain, Chester E. German, Michael S. Anderson, Mark S. Hirsch, Irl B. |
author_facet | Grier, Alexandra E. McGill, Janet B. Lord, Sandra M. Speake, Cate Greenbaum, Carla Chamberlain, Chester E. German, Michael S. Anderson, Mark S. Hirsch, Irl B. |
author_sort | Grier, Alexandra E. |
collection | PubMed |
description | BACKGROUND: Identifying cases of diabetes caused by single gene mutations between the more common type 1 diabetes (T1D) and type 2 diabetes (T2D) is a difficult but important task. We report the diagnosis of ATP-binding cassette transporter sub-family C member 8 (ABCC8)-related monogenic diabetes in a 35-year-old woman with a protective human leukocyte antigen (HLA) allele who was originally diagnosed with T1D at 18 years of age. CASE REPORT: Patient A presented with polyuria, polydipsia, and hypertension at the age of 18 years and was found to have a blood glucose > 500 mg/dL (70-199 mg/dL) and an HbA1C (hemoglobin A1C) >14% (4%-5.6%). She had an unmeasurable C-peptide but no urine ketones. She was diagnosed with T1D and started on insulin therapy. Antibody testing was negative. She required low doses of insulin and later had persistence of low but detectable C-peptide. At the age of 35 years, she was found to have a protective HLA allele, and genetic testing revealed a pathogenic mutation in the ABCC8 gene. The patient was then successfully transitioned to sulfonylurea therapy. DISCUSSION: Monogenic diabetes diagnosed in adolescence typically presents with mild to moderate hyperglycemia, positive family history and, in some cases, other organ findings or dysfunction. The patient in this report presented with very high blood glucose, prompting the diagnosis of T1D. When she was found to have a protective HLA allele, further investigation revealed the mutation in the sulfonylurea receptor gene, ABCC8. CONCLUSION: Patients suspected of having T1D but with atypical clinical characteristics such as negative autoantibodies, low insulin requirements, and persistence of C-peptide should undergo genetic testing for monogenic diabetes. |
format | Online Article Text |
id | pubmed-10382606 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | American Association of Clinical Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-103826062023-07-30 ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent Grier, Alexandra E. McGill, Janet B. Lord, Sandra M. Speake, Cate Greenbaum, Carla Chamberlain, Chester E. German, Michael S. Anderson, Mark S. Hirsch, Irl B. AACE Clin Case Rep Case Report BACKGROUND: Identifying cases of diabetes caused by single gene mutations between the more common type 1 diabetes (T1D) and type 2 diabetes (T2D) is a difficult but important task. We report the diagnosis of ATP-binding cassette transporter sub-family C member 8 (ABCC8)-related monogenic diabetes in a 35-year-old woman with a protective human leukocyte antigen (HLA) allele who was originally diagnosed with T1D at 18 years of age. CASE REPORT: Patient A presented with polyuria, polydipsia, and hypertension at the age of 18 years and was found to have a blood glucose > 500 mg/dL (70-199 mg/dL) and an HbA1C (hemoglobin A1C) >14% (4%-5.6%). She had an unmeasurable C-peptide but no urine ketones. She was diagnosed with T1D and started on insulin therapy. Antibody testing was negative. She required low doses of insulin and later had persistence of low but detectable C-peptide. At the age of 35 years, she was found to have a protective HLA allele, and genetic testing revealed a pathogenic mutation in the ABCC8 gene. The patient was then successfully transitioned to sulfonylurea therapy. DISCUSSION: Monogenic diabetes diagnosed in adolescence typically presents with mild to moderate hyperglycemia, positive family history and, in some cases, other organ findings or dysfunction. The patient in this report presented with very high blood glucose, prompting the diagnosis of T1D. When she was found to have a protective HLA allele, further investigation revealed the mutation in the sulfonylurea receptor gene, ABCC8. CONCLUSION: Patients suspected of having T1D but with atypical clinical characteristics such as negative autoantibodies, low insulin requirements, and persistence of C-peptide should undergo genetic testing for monogenic diabetes. American Association of Clinical Endocrinology 2023-04-07 /pmc/articles/PMC10382606/ /pubmed/37520758 http://dx.doi.org/10.1016/j.aace.2023.04.001 Text en © 2023 AACE. Published by Elsevier Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Grier, Alexandra E. McGill, Janet B. Lord, Sandra M. Speake, Cate Greenbaum, Carla Chamberlain, Chester E. German, Michael S. Anderson, Mark S. Hirsch, Irl B. ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent |
title | ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent |
title_full | ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent |
title_fullStr | ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent |
title_full_unstemmed | ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent |
title_short | ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent |
title_sort | abcc8-related monogenic diabetes presenting like type 1 diabetes in an adolescent |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10382606/ https://www.ncbi.nlm.nih.gov/pubmed/37520758 http://dx.doi.org/10.1016/j.aace.2023.04.001 |
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