Czy nieprawidłowe rozpoznanie zespołu Wolframa jako cukrzycy typu 1 i jej powikłań może być przyczyną rzadkiego rozpoznawania tego zespołu?
| Autor: | Liliana Majkowska, Marta Ewa Bryśkiewicz, Piotr Molęda, Katarzyna Homa, Adam Stefański, Agnieszka Zmysłowska |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Type 1 diabetes
medicine.medical_specialty Pediatrics endocrine system diseases business.industry Wolfram syndrome Endocrinology Diabetes and Metabolism nutritional and metabolic diseases medicine.disease Compound heterozygosity Frameshift mutation Endocrinology Atrophy Internal medicine Diabetes mellitus Diabetes insipidus Medicine Medical history business |
| Zdroj: | Endokrynologia Polska. 65:398-400 |
| ISSN: | 0423-104X |
| DOI: | 10.5603/ep.2014.0055 |
| Popis: | Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy. WS is caused mainly by biallelic mutations in the WFS1 gene, which encodes wolframin. Wide tissue distribution of wolframin and many mutations in the wolframin gene resulting in Wolfram syndrome may contribute to different phenotypes and the unusual combinations of clinical features. We describe a female patient with Wolfram syndrome diagnosed at the age of 25, with a previous false diagnosis of type 1 diabetes mellitus and misdiagnosed diabetic complications. The patient was found to be a compound heterozygote for two novel mutations in exon 8 of WFS1 gene: a 2-bp deletion AT at nt 1539 leading to a frameshift (Y513fs) and a single-base substitution 1174C > T resulting in a stop codon (Q392X). A detailed analysis of the patient's medical history and a review of the literature suggest that many cases of Wolfram syndrome may remain undiagnosed due to misdiagnosis as type 1 diabetes mellitus and incorrect interpretation of clinical symptoms of neurodegenerative abnormalities, especially in their early stages. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|