Diabetes in the young - a case of Alström syndrome with myopathy
| Autor: | C R Anand Moses, D Venkatesh, J Amudha, I Periyandavar, Stephen Charles Bronson, A Shanmugam, R Vasuki, E Suresh, P Dharmarajan |
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| Rok vydání: | 2015 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Adolescent Cardiomyopathy Cell Cycle Proteins Disease Education Insulin resistance Diabetes mellitus medicine Diabetes Mellitus Humans Myopathy Alstrom Syndrome Muscle Cramp business.industry Proteins General Medicine medicine.disease Ciliopathy Mutation Gynecomastia medicine.symptom Metabolic syndrome business Retinitis Pigmentosa Alström syndrome |
| Zdroj: | The journal of the Royal College of Physicians of Edinburgh. 45(1) |
| ISSN: | 2042-8189 |
| Popis: | Alstrom syndrome is a rare ciliopathy affecting about 1 in 1,000,000 individuals. It is characterised by cone-rod dystrophy, insulin resistance, diabetes mellitus, cardiomyopathy, renal failure and hypogonadism. Progressive multi-organ dysfunction eventually leads to death. Only about 800 patients with this disorder have been identified so far. The diagnosis of Alstrom syndrome is critical as it can easily be overlooked because of the many features it shares with metabolic syndrome. The gene affected in this autosomal recessive disease is ALMS1, the protein product of which is involved in intracellular trafficking and ciliary function. Alstrom syndrome is being studied as a model which would potentially shed light on the pathophysiology of diabetes mellitus. In this report, we describe a patient with features of Alstrom syndrome and a clinical picture suggestive of a recurrent, severe, steroid responsive myopathy which, to the best of our knowledge, has not been reported so far. |
| Databáze: | OpenAIRE |
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