Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10
| Autor: | Luiz Clemente Rolim, Sergio Atala Dib, Regina S. Moisés, Carla Sanchez Bergamin |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
Intestinal pseudo-obstruction
medicine.medical_specialty Constipation Ubiquinone Endocrinology Diabetes and Metabolism Mitochondrial disease Deafness Gastroenterology DNA Mitochondrial Diabetes Complications Diabetes mellitus genetics chemistry.chemical_compound MIDD Pseudo intestinal obstruction Internal medicine Diabetes mellitus medicine Diabetes Mellitus Humans Point Mutation Coenzyme Q10 Gastrointestinal tract business.industry Intestinal Pseudo-Obstruction General Medicine Vitamins Middle Aged medicine.disease Pedigree CoenzymeQ10 Diarrhea Endocrinology chemistry Female medicine.symptom business |
| Zdroj: | Arquivos Brasileiros de Endocrinologia & Metabologia v.52 n.8 2008 Arquivos Brasileiros de Endocrinologia & Metabologia Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) instacron:SBEM |
| Popis: | Maternally inherited diabetes and deafness (MIDD) has been related to an A to G transition in the mitochondrial tRNA Leu (UUR) gene at the base pair 3243. This subtype of diabetes is characterized by maternal transmission, young age at onset and bilateral hearing impairment. Besides diabetes and deafness, the main diagnostic features, a wide range of multisystemic symptoms may be associated with the A3243G mutation. Organs that are most metabolically active, such as muscles, myocardium, retina, cochlea, kidney and brain are frequently affected. Gastrointestinal tract symptoms are also common in patients with mitochondrial disease and constipation and diarrhea are the most frequent manifestations. However, there are few prior reports of intestinal pseudo obstruction in MIDD patients. Here we report the case of a patient with MIDD associated with the mtDNA A3243G mutation who developed chronic intestinal pseudo obstruction, and the introduction of Coenzyme Q10 as adjunctive therapy led to a solution of the pseudo obstruction. |
| Databáze: | OpenAIRE |
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