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[Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review].
Journal article

[Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review].

  • Lu H Service de médecine interne, centre hospitalier universitaire vaudois (CHUV), rue du Bugnon, 46, 1011 Lausanne, Suisse. Electronic address: henri.lu@chuv.ch.
  • Lu H Service des urgences adultes, centre hospitalier universitaire Antoine-Béclère, Assistance publique-Hôpitaux de Paris (AP-HP), 157, rue de la Porte de Trivaux, 92140 Clamart, France.
  • Vaucher J Service de médecine interne, centre hospitalier universitaire vaudois (CHUV), rue du Bugnon, 46, 1011 Lausanne, Suisse.
  • Tran C Service de médecine génétique, centre hospitalier universitaire vaudois (CHUV), rue du Bugnon, 46, 1011 Lausanne, Suisse.
  • Vollenweider P Service de médecine interne, centre hospitalier universitaire vaudois (CHUV), rue du Bugnon, 46, 1011 Lausanne, Suisse.
  • Castioni J Service de médecine interne, centre hospitalier universitaire vaudois (CHUV), rue du Bugnon, 46, 1011 Lausanne, Suisse.
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  • 2018-07-23
Published in:
  • La Revue de medecine interne. - 2019
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
Anemia, Megaloblastic
Diabetes Mellitus
Diagnosis, Differential
Dietary Supplements
Hearing Loss, Sensorineural
Humans
Membrane Transport Proteins
Mutation
Thiamine
Thiamine Deficiency
English 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.
Language
  • English
Open access status
closed
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https://sonar.ch/global/documents/78995
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