Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study
| Autor: | E. Kavazarakis, J. Lambrou, S. Stabouli, K. Roumeliotou, Joanne Traeger-Synodinos, Dimitrios Gourgiotis, Emmanouel Kanavakis, C. Karagianni |
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| Rok vydání: | 2004 |
| Předmět: |
Heterozygote
medicine.medical_specialty Diabetic ketoacidosis Endocrinology Diabetes and Metabolism Compound heterozygosity Diabetic Ketoacidosis Exon Endocrinology Internal medicine Diabetes mellitus Internal Medicine medicine Humans Child Triglycerides Family Health Type 1 diabetes Lipoprotein lipase business.industry Metabolic disorder medicine.disease Pedigree Ketoacidosis Lipoprotein Lipase Diabetes Mellitus Type 1 Mutation Female business |
| Zdroj: | Diabetic Medicine. 21:380-382 |
| ISSN: | 1464-5491 0742-3071 |
| DOI: | 10.1111/j.1464-5491.2004.1111.x |
| Popis: | The lipoprotein lipase coding gene sequence was analysed on a 10-year-old girl with new-onset Type 1 diabetes mellitus (DM), ketoacidosis and severe hypertriglyceridaemia (TG > 112.9 mmol/l), revealing that the patient was a compound heterozygote for two mutations, D9N in exon 2 and S447X in exon 9. Although these two mutations usually do not considerably impair lipolytic enzyme activity, the combination of both in this patient may play a role in the development of severe hyperrriglyceridaemia. |
| Databáze: | OpenAIRE |
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