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L’anémie mégaloblastique thiamine dépendante ou syndrome de Rogers : une revue de la littérature
- Source :
- La Revue de Médecine Interne. 40:20-27
- Publication Year :
- 2019
- Publisher :
- Elsevier BV, 2019.
-
Abstract
- Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness. Those features occur in infancy but may arise during adolescence. Diagnosis relies on uncovering genetic variations (alleles) in the SLC19A2 gene, encoding for a high affinity thiamine transporter. This transporter is essentially present in hematopoietic stem cells, pancreatic beta cells and inner ear cells, explaining the clinical manifestations of the disease. Based on a multidisciplinary approach, treatment resides on lifelong thiamine oral supplementation at pharmacological doses, which reverses anemia and may delay development of diabetes. However, thiamine supplementation does not alleviate already existing hearing defects.
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
Anemia
03 medical and health sciences
0302 clinical medicine
Diabetes mellitus
Internal medicine
Internal Medicine
Thiamine transporter
Medicine
Megaloblastic anemia
biology
business.industry
Gastroenterology
food and beverages
medicine.disease
030104 developmental biology
Endocrinology
biology.protein
SLC19A2
Thiamine
Sensorineural hearing loss
Stem cell
business
human activities
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 02488663
- Volume :
- 40
- Database :
- OpenAIRE
- Journal :
- La Revue de Médecine Interne
- Accession number :
- edsair.doi...........1045928ba542588837542899e014285f