Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F18%3A10374863" target="_blank" >RIV/00216208:11140/18:10374863 - isvavai.cz</a>
Alternative codes found
RIV/00669806:_____/18:10374863
Result on the web
<a href="http://dx.doi.org/10.1007/s00125-018-4554-x" target="_blank" >http://dx.doi.org/10.1007/s00125-018-4554-x</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00125-018-4554-x" target="_blank" >10.1007/s00125-018-4554-x</a>
Alternative languages
Result language
angličtina
Original language name
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome
Original language description
Diabetes is one of the cardinal features of thiamine-responsive megaloblastic anaemia (TRMA) syndrome. Current knowledge of this rare monogenic diabetes subtype is limited. We investigated the genotype, phenotype and response to thiamine (vitamin B1) in a cohort of individuals with TRMA-related diabetes. We studied 32 individuals with biallelic SLC19A2 mutations identified by Sanger or next generation sequencing. Clinical details were collected through a follow-up questionnaire. We identified 24 different mutations, of which nine are novel. The onset of the first TRMA symptom ranged from birth to 4 years/ median 6 months (interquartile range, IQR 3-24)/ and median age at diabetes onset was 10 months (IQR 5-27). At presentations, three individuals had isolated diabetes and 12 had asymptomatic hyperglycaemia. Follow-up data was available for 15 individuals treated with thiamine for a median 4.7 years (IQR 3-10). Four patients were able to stop insulin and seven achieved better glycaemic control on lower insulin doses. These 11 patients were significantly younger at diabetes diagnosis (p=0.042), at genetic testing (p=0.01) and when starting thiamine (p=0.007) compared with the rest of the cohort. All patients treated with thiamine became transtusion-independent and thiamine transporter in these three tissues and explains the presence of deafness, diabetes and anaemia in individuals with TRMA syndrome /10-13/.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30209 - Paediatrics
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Diabetologia
ISSN
0012-186X
e-ISSN
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Volume of the periodical
61
Issue of the periodical within the volume
5
Country of publishing house
DE - GERMANY
Number of pages
10
Pages from-to
1027-1036
UT code for WoS article
000428796200005
EID of the result in the Scopus database
2-s2.0-85042135078