Hidden MODY - Looking for a Needle in a Haystack
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F18%3A43916902" target="_blank" >RIV/00216208:11120/18:43916902 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/18:10376489 RIV/00064173:_____/18:N0000034 RIV/00064203:_____/18:10376489
Result on the web
<a href="https://doi.org/10.3389/fendo.2018.00355" target="_blank" >https://doi.org/10.3389/fendo.2018.00355</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3389/fendo.2018.00355" target="_blank" >10.3389/fendo.2018.00355</a>
Alternative languages
Result language
angličtina
Original language name
Hidden MODY - Looking for a Needle in a Haystack
Original language description
MODY (Maturity onset diabetes of the young) is a specific type of diabetes caused by mutation in a single gene, involved in the development and function of the β-cells, inherited in an autosomal dominant manner. Out of fourteen, up to date discovered, MODY genes the most often affected ones include GCK (gene encoding glucokinase enzyme) and HNF1A (encoding the transcription factor - hepatocyte nuclear factor 1α), which altogether account for approximately 80% of all MODY cases. Mutations in other genes (e.g., HNF4A or HNF1B - hepatocyte nuclear factor 4α and 1β), occur rarely. Although MODY represents a rather scarce diabetes type, searching for MODY among much more prevalent forms of diabetes is important and desirable for its clear impact on clinical practice - for appropriate diabetes management with the most suitable treatment (accompanied with improved quality of life), for assessing the real risk of development and progression of specific diabetic complications in each MODY type, as well as for early diagnosis in the patient's relatives and offspring. Nevertheless, overwhelming majority of MODY patients worldwide remains misdiagnosed. Moreover, no unitary and up-to-date diagnostic guidelines have been established so far, and also it is not obvious, which approach to correct identification of MODY patients is optimal. The aim of this communication is to present our experiences with searching for patients with MODY in the context of current diagnostic proceedings and actual study outputs available.
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
30202 - Endocrinology and metabolism (including diabetes, hormones)
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
Frontiers in Endocrinology
ISSN
1664-2392
e-ISSN
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Volume of the periodical
9
Issue of the periodical within the volume
July
Country of publishing house
CH - SWITZERLAND
Number of pages
5
Pages from-to
"Article 355"
UT code for WoS article
000436970700001
EID of the result in the Scopus database
2-s2.0-85050112119