دورية أكاديمية
Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature
| العنوان: | Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature |
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| المؤلفون: | Mafalda Cascais, Ester Pereira, Alexandra Vieira, Margarida Venâncio, Lina Ramos, Pascoal Moleiro |
| المصدر: | Annals of Pediatric Endocrinology & Metabolism, Vol 24, Iss 4, Pp 262-266 (2019) |
| بيانات النشر: | Korean Society of Pediatric Endocrinology, 2019. |
| سنة النشر: | 2019 |
| المجموعة: | LCC:Pediatrics |
| مصطلحات موضوعية: | maturity onset diabetes of the young, pediatric, glucokinase, hyperglycemia, Pediatrics, RJ1-570 |
| الوصف: | Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form. We report 2 cases of MODY-2 identified during the investigation of asymptomatic hyperglycemia. A 12-year-old girl with a familiar history of diabetes (mother, maternal aunt, and maternal grandfather) was referred due to hypercholesterolemia, abnormal fasting glucose (114 mg/dL), and increased levels of glycated haemoglobin (HbA1c) (6%) presenting with negative β-cell antibodies. A glucokinase (GCK) heterozygous missense mutation c.364C>T (p.Leu122Phe) in exon 4 was identified in the index patient and in the 3 family members. An obese 9-year-old boy was investigated for elevated fasting glycemic levels (99–126 mg/dL), HbA1c rise (6.6%–7.6%), and negative β-cell antibodies. The patient’s father, paternal aunt, and paternal grandfather had a history of diabetes during their childhood. A GCK heterozygous missense mutation c.698G>A (p.Cys233Tyr) in exon 7 was identified in the index patient. This variant was only described in another family strongly affected by both MODY and classic autoimmune mediated diabetes, contrary to our case. MODY-2 should be suspected in the presence of early onset of persistent mild fasting hyperglycemia and negative β-cell antibodies associated with a positive family history of diabetes. These cases illustrate the challenging aspects of MODY diagnosis due to possible phenotypic overlap with other types of diabetes. The diagnosis requires a high level of suspicion and GCK genetic screening should be performed in the presence of compatible features. An early diagnosis allows for appropriate management, genetic counselling, and the identification of affected family members. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2287-1012 2287-1292 |
| Relation: | http://e-apem.org/upload/pdf/apem-2019-24-4-262.pdf; https://doaj.org/toc/2287-1012; https://doaj.org/toc/2287-1292 |
| DOI: | 10.6065/apem.2019.24.4.262 |
| URL الوصول: | https://doaj.org/article/b74e96fa20be46d584ab18637d893ce1 |
| رقم الأكسشن: | edsdoj.b74e96fa20be46d584ab18637d893ce1 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22871012 22871292 |
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| DOI: | 10.6065/apem.2019.24.4.262 |