Most cited article - PubMed ID 30013516
Hidden MODY-Looking for a Needle in a Haystack
INTRODUCTION: Neonatal hypoglycaemia is the most common metabolic disorder of various causes, relatively rare being MODY (Maturity Onset Diabetes of the Young). CONTENT: Data search of relevant articles focused on hypoglycaemia in carriers of selected MODY gene mutations published from 2007 to 2022 was performed in databases Medline, PubMed, Cochrane and UptoDate based on key words: 'hyperinsulinemic hypoglycaemia', 'congenital hyperinsulinism', 'MODY', 'HNF4A mutation', 'HNF1A mutation'. SUMMARY: Loss of function of HNF4A and HNF1A genes comprises approximately to 5.9 % of diazoxide responsive hyperinsulinemic hypoglycaemia, which may appear in 15 % HNF4A mutation carriers. A typical finding of HNF4A mutation carriers with neonatal hypoglycaemia was a birth weight above 4000 g or above 97th percentile. OUTLOOK: Although mutations in MODY genes represent a rare cause of neonatal hypoglycaemia, they should be considered in the differential diagnosis, particularly in cases of persistent hypoglycaemia requiring intensive care.
- Keywords
- HNF1A, HNF4A, MODY, congenital hyperinsulinism, hyperinsulinemic hypoglycemia,
- MeSH
- Diabetes Mellitus, Type 2 * genetics complications MeSH
- Hepatocyte Nuclear Factor 1-alpha genetics MeSH
- Hepatocyte Nuclear Factor 4 * genetics MeSH
- Hypoglycemia * genetics etiology pathology MeSH
- Humans MeSH
- Mutation * MeSH
- Infant, Newborn, Diseases * genetics MeSH
- Infant, Newborn MeSH
- Parents MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
- Names of Substances
- Hepatocyte Nuclear Factor 1-alpha MeSH
- Hepatocyte Nuclear Factor 4 * MeSH
- HNF1A protein, human MeSH Browser
- HNF4A protein, human MeSH Browser
BACKGROUND: The aim of this study was to estimate the prevalence of diabetes mellitus in the Roma population and compare it to the prevalence in the Caucasian population. METHODS: Using the words "Roma", "Gypsies", "Romani", and "traveler" in combination with "diabetes, "metabolic syndrome", "cardiovascular disease" and "health status" we searched the MEDLINE, Pubmed and Scopus databases for articles in English that focused on the prevalence of diabetes mellitus among Roma populations published until December 2017. RESULTS: Five studies met the inclusion criteria. The results of four of them suggested a higher prevalence of diabetes among Romani compared to Caucasians but none of them reached the standards regarding representative samples and number of cases for a conclusive result. CONCLUSION: Although some of the existing studies suggest a substantial prevalence of diabetes among Roma populations and even a higher risk of developing diabetes for Roma persons compared to Caucasians, the number of published literature on this topic remains very low and insufficient in design and number of participants to draw any conclusions.
- Keywords
- Roma ethnic, Romani, diabetes mellitus, gypsy, prevalence,
- MeSH
- White People MeSH
- Diabetes Mellitus epidemiology MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Prevalence MeSH
- Roma * MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Health Status MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Systematic Review MeSH
- Geographicals
- Europe epidemiology MeSH