When to Consider a Diagnosis of Maturity-Onset Diabetes of the Young: Precise Diagnosis Leads to Better Management and Quality of Life for the Patients
Maturity-onset diabetes of the young (MODY) is often misclassified and can significantly impact the management of these patients and their families. We present three cases initially diagnosed as type 1 diabetes mellitus (T1DM), type 2 diabetes mellitus (T2DM), and fasting hyperglycemia, which were l...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Thieme Medical and Scientific Publishers Pvt. Ltd.
|
| Series: | Avicenna Journal of Medicine |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1802584 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1823857057634189312 |
|---|---|
| author | Yujia Gao Kalyan Mansukhbhai Shekhda Sarah N. Ali |
| author_facet | Yujia Gao Kalyan Mansukhbhai Shekhda Sarah N. Ali |
| author_sort | Yujia Gao |
| collection | DOAJ |
| description | Maturity-onset diabetes of the young (MODY) is often misclassified and can significantly impact the management of these patients and their families. We present three cases initially diagnosed as type 1 diabetes mellitus (T1DM), type 2 diabetes mellitus (T2DM), and fasting hyperglycemia, which were later identified as MODY. A 38-year-old Caucasian lady, previously diagnosed with T2DM, was referred to the diabetes antenatal clinic. She was treated with gliclazide and metformin before pregnancy. She required insulin glargine during her pregnancy. Her diabetes autoantibodies were negative. MODY was suspected and genetic testing confirmed HNF1A MODY gene mutation. A 57-year-old Caucasian lady was diagnosed with T1DM at the age of 18 years. Since diagnosis, she was treated with insulin glargine without any short-acting insulin, yet persistently suffered from hypoglycemia. MODY was suspected and genetic testing confirmed HNF4A gene mutation. A 33-year-old South Asian lady was referred to a diabetes clinic for suspected T2DM due to strong family history of T2DM, ethnicity, and persistently elevated fasting blood glucose levels. Her genetic testing confirmed GCK-MODY (Glucokinae-maturity-onset diabetes of the young). MODY represents a group of genetic diabetes that can often go unrecognized due to misdiagnosis. Achieving an accurate diagnosis is important as it guides appropriate treatment strategies, improves patient outcomes, and has an impact on other family members due to the hereditary nature of the condition. Employing a systematic approach is crucial. Our cases highlight that it is never too late to challenge the diabetes classification. |
| format | Article |
| id | doaj-art-53496957f94f48ad97d427f5c1267f39 |
| institution | Kabale University |
| issn | 2231-0770 2249-4464 |
| language | English |
| publisher | Thieme Medical and Scientific Publishers Pvt. Ltd. |
| record_format | Article |
| series | Avicenna Journal of Medicine |
| spelling | doaj-art-53496957f94f48ad97d427f5c1267f392025-02-12T01:10:27ZengThieme Medical and Scientific Publishers Pvt. Ltd.Avicenna Journal of Medicine2231-07702249-446410.1055/s-0045-1802584When to Consider a Diagnosis of Maturity-Onset Diabetes of the Young: Precise Diagnosis Leads to Better Management and Quality of Life for the PatientsYujia Gao0https://orcid.org/0000-0002-4857-5140Kalyan Mansukhbhai Shekhda1https://orcid.org/0000-0001-7884-0403Sarah N. Ali2UCL Medical School, University College London, London, United KingdomDepartment of Diabetes and Endocrinology, Royal Free London NHS Foundation Trust, Pond St, London, United KingdomDepartment of Diabetes and Endocrinology, Royal Free London NHS Foundation Trust, Pond St, London, United KingdomMaturity-onset diabetes of the young (MODY) is often misclassified and can significantly impact the management of these patients and their families. We present three cases initially diagnosed as type 1 diabetes mellitus (T1DM), type 2 diabetes mellitus (T2DM), and fasting hyperglycemia, which were later identified as MODY. A 38-year-old Caucasian lady, previously diagnosed with T2DM, was referred to the diabetes antenatal clinic. She was treated with gliclazide and metformin before pregnancy. She required insulin glargine during her pregnancy. Her diabetes autoantibodies were negative. MODY was suspected and genetic testing confirmed HNF1A MODY gene mutation. A 57-year-old Caucasian lady was diagnosed with T1DM at the age of 18 years. Since diagnosis, she was treated with insulin glargine without any short-acting insulin, yet persistently suffered from hypoglycemia. MODY was suspected and genetic testing confirmed HNF4A gene mutation. A 33-year-old South Asian lady was referred to a diabetes clinic for suspected T2DM due to strong family history of T2DM, ethnicity, and persistently elevated fasting blood glucose levels. Her genetic testing confirmed GCK-MODY (Glucokinae-maturity-onset diabetes of the young). MODY represents a group of genetic diabetes that can often go unrecognized due to misdiagnosis. Achieving an accurate diagnosis is important as it guides appropriate treatment strategies, improves patient outcomes, and has an impact on other family members due to the hereditary nature of the condition. Employing a systematic approach is crucial. Our cases highlight that it is never too late to challenge the diabetes classification.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1802584MODYgenetic diabetes HNF1A HNF4A GCK-MODY |
| spellingShingle | Yujia Gao Kalyan Mansukhbhai Shekhda Sarah N. Ali When to Consider a Diagnosis of Maturity-Onset Diabetes of the Young: Precise Diagnosis Leads to Better Management and Quality of Life for the Patients Avicenna Journal of Medicine MODY genetic diabetes HNF1A HNF4A GCK-MODY |
| title | When to Consider a Diagnosis of Maturity-Onset Diabetes of the Young: Precise Diagnosis Leads to Better Management and Quality of Life for the Patients |
| title_full | When to Consider a Diagnosis of Maturity-Onset Diabetes of the Young: Precise Diagnosis Leads to Better Management and Quality of Life for the Patients |
| title_fullStr | When to Consider a Diagnosis of Maturity-Onset Diabetes of the Young: Precise Diagnosis Leads to Better Management and Quality of Life for the Patients |
| title_full_unstemmed | When to Consider a Diagnosis of Maturity-Onset Diabetes of the Young: Precise Diagnosis Leads to Better Management and Quality of Life for the Patients |
| title_short | When to Consider a Diagnosis of Maturity-Onset Diabetes of the Young: Precise Diagnosis Leads to Better Management and Quality of Life for the Patients |
| title_sort | when to consider a diagnosis of maturity onset diabetes of the young precise diagnosis leads to better management and quality of life for the patients |
| topic | MODY genetic diabetes HNF1A HNF4A GCK-MODY |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1802584 |
| work_keys_str_mv | AT yujiagao whentoconsideradiagnosisofmaturityonsetdiabetesoftheyoungprecisediagnosisleadstobettermanagementandqualityoflifeforthepatients AT kalyanmansukhbhaishekhda whentoconsideradiagnosisofmaturityonsetdiabetesoftheyoungprecisediagnosisleadstobettermanagementandqualityoflifeforthepatients AT sarahnali whentoconsideradiagnosisofmaturityonsetdiabetesoftheyoungprecisediagnosisleadstobettermanagementandqualityoflifeforthepatients |