L’anémie mégaloblastique thiamine dépendante ou syndrome de Rogers : une revue de la littérature [Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review]

Details

Serval ID
serval:BIB_F55EAC609218
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
L’anémie mégaloblastique thiamine dépendante ou syndrome de Rogers : une revue de la littérature [Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review]
Journal
La Revue de medecine interne
Author(s)
Lu H., Lu H., Vaucher J., Tran C., Vollenweider P., Castioni J.
ISSN
1768-3122 (Electronic)
ISSN-L
0248-8663
Publication state
Published
Issued date
01/2019
Peer-reviewed
Oui
Volume
40
Number
1
Pages
20-27
Language
french
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
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.
Keywords
Anemia, Megaloblastic/diagnosis, Anemia, Megaloblastic/physiopathology, Anemia, Megaloblastic/therapy, Diabetes Mellitus/diagnosis, Diabetes Mellitus/physiopathology, Diabetes Mellitus/therapy, Diagnosis, Differential, Dietary Supplements, Hearing Loss, Sensorineural/diagnosis, Hearing Loss, Sensorineural/physiopathology, Hearing Loss, Sensorineural/therapy, Humans, Membrane Transport Proteins/genetics, Mutation, Thiamine/therapeutic use, Thiamine Deficiency/congenital, Thiamine Deficiency/diagnosis, Thiamine Deficiency/physiopathology, Thiamine Deficiency/therapy, Analyse de mutations d’ADN, Anémie mégaloblastique, Carence en thiamine, DNA mutational analysis, Diabetes mellitus, Diabète, Megaloblastic anemia, Sensorineural hearing loss, Surdité neurosensorielle, Thiamine deficiency
Pubmed
Web of science
Create date
21/08/2018 17:29
Last modification date
20/08/2019 16:22
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