Identification of MODY among patients screened for gestational diabetes: a clinician's guide
Jazyk angličtina Země Německo Médium print-electronic
Typ dokumentu časopisecké články, práce podpořená grantem, přehledy
PubMed
32495018
DOI
10.1007/s00404-020-05626-y
PII: 10.1007/s00404-020-05626-y
Knihovny.cz E-zdroje
- Klíčová slova
- GCK, Gestational diabetes, HNF, MODY, Screening,
- MeSH
- diabetes mellitus 2. typu diagnóza epidemiologie MeSH
- dospělí MeSH
- gestační diabetes krev diagnóza epidemiologie MeSH
- glukokinasa genetika MeSH
- glykovaný hemoglobin analýza MeSH
- lidé MeSH
- mutace MeSH
- těhotenství při diabetu MeSH
- těhotenství MeSH
- výsledek těhotenství MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- Názvy látek
- glukokinasa MeSH
- glykovaný hemoglobin MeSH
PURPOSE: Screening of gestational diabetes/GDM (although different in different countries) represents a standard procedure allowing to identify women with pregnancy-associated diabetes. Some of the women with GDM (up to 5%) may, however, suffer from previously undiagnosed MODY (Maturity-Onset Diabetes of the Young). Currently, no international or local guidelines focused on the identification of MODY among GDM exist. Thus, the aim of this manuscript is to propose a clear guide for clinicians on how to detect MODY among pregnant women with gestational diabetes. METHODS: Based on the available literature about diagnosis (in general population) of MODY and management of MODY (both, in general population and in pregnant women), we propose a clear clinical guide on how to diagnose and manage MODY in pregnancy. RESULTS: The manuscript suggests a feasible clinical approach how to recognize MODY among patients with GDM and how to manage pregnancy of women with three most common MODY subtypes. CONCLUSION: A correct classification of diabetes is, nonetheless, essential, particularly in case of MODY, as the management of pregnant women with MODY is different and the correct diagnosis of MODY enables individualized treatment with regard to optimal pregnancy outcomes.
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American Diabetes Association (2020) Classification and diagnosis of diabetes: standards of medical care in diabetes—2020. Diabetes Care 43(Supplement 1):S14–S31. https://doi.org/10.2337/dc20-S002 DOI
American Diabetes Association (2020) Management of diabetes in pregnancy: standards of medical care in diabetes—2020. Diabetes Care 43(Supplement 1):S183–S192. https://doi.org/10.2337/dc20-S014 DOI
Behboudi-Gandevani S, Amiri M, Bidhendi Yarandi R et al (2019) The impact of diagnostic criteria for gestational diabetes on its prevalence: a systematic review and meta-analysis. Diabetol Metab Syndr 11:11. https://doi.org/10.1186/s13098-019-0406-1 PubMed DOI PMC
International Association of Diabetes and Pregnancy Study Groups Consensus Panel, Metzger BE, Gabbe SG et al (2010) International association of diabetes and pregnancy study groups recommendations on the diagnosis and classification of hyperglycemia in pregnancy. Diabetes Care 33(3):676–682. 10.2337/dc09-1848
Andělová K, Anderlová K, Bláha J et al (2018) Gestační diabetes mellitus, doporučený postup screeningu, gynekologické, perinatologické, diabetologické a neonatologické péče 2017. DMEV 21(3):113–120
Zhang X, Gregg EW, Williamson DF et al (2010) A1C level and future risk of diabetes: a systematic review. Diabetes Care 33:1665–1673 DOI
Ho Y-R, Wang P, Lu M-C, Tseng S-T, Yang C-P, Yan Y-H (2017) Associations of mid-pregnancy HbA1c with gestational diabetes and risk of adverse pregnancy outcomes in high-risk Taiwanese women. PLoS ONE 12:e0177563 DOI
Urbanová J, Brunerová L, Brož J (2019) Heterogeneity of gestational diabetes—do we take MODY into consideration as much as we should? Diab Res Clin Pract 148(2):268–269. https://doi.org/10.1016/j.diabres.2018.11.009 DOI
Gjesing AP, Rui G, Lauenborg J et al (2017) High prevalence of diabetes-predisposing variants in MODY genes among danish women with gestational diabetes mellitus. J Endocr Soc 1(6):681–690. https://doi.org/10.1210/js.2017-00040 PubMed DOI PMC
Naylor R, Knight Johnson A, del Gaudio D (2018) Maturity-Onset Diabetes of the Young Overview. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2018. https://www.ncbi.nlm.nih.gov/books/NBK500456/
Firdous P, Nissa K, Ali S, Ganai BA, Shabir U, Hassan T, Masoodi SR (2018) Genetic testing of maturity-onset diabetes of the young current status and future perspectives front. Endocrinol. https://doi.org/10.3389/fendo.2018.00253 DOI
Ellard S, Bellanné-Chantelot C, Hattersley AT, European Molecular Genetics Quality Network (EMQN) MODY group (2008) Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 51 (4): 546–553
Chakera AJ, Steele AM, Gloyn AL et al (2015) Recognition and management of individuals with hyperglycaemia because of a heterozygous glucokinase mutation. Diabetes Care 38(7):1383–1392 DOI
Stride A, Vaxillaire M, Tuomi T et al (2002) The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia 45:427–435 DOI
Brunerova L, Rahelic D, Ceriello A, Broz J (2018) Use of oral antidiabetic drugs in the treatment of Maturity-Onset Diabetes of the Young (MODY): a minireview. Diabetes Metab Res Rev 34(1):e2940 DOI
Urbanová J, Brunerová L, Brož J (2018) Hidden MODY—looking for a Needle in a Haystack. Front Endocrinol (Lausanne) 9:355. https://doi.org/10.3389/fendo.2018.00355 DOI
Shields BM, Hicks S, Shepherd MH et al (2010) Maturity onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 53(12):2504–2508 DOI
Carlsson A, Shepherd M, Ellard S, Weedon M, Lernmark Å, Forsander G et al (2020) Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should lead to testing for MODY: lessons from a 5-year pediatric Swedish National Cohort Study. Diabetes Care 43(1):82–89. https://doi.org/10.2337/dc19-0747 DOI
https://www.diabetesgenes.org/gck-guidelines-in-pregnancy/
Monsonegro S, Clark H, Karovitch A, O’Meara P, Shaw T, Malcom J (2019) Management and outcomes of maturity-onset diabetes of the young in pregnancy. Can J Diabetes 43(8):647–654. https://doi.org/10.1016/j.jcjd.2019.07.004 DOI
Spyer G, Hattersley AT, Sykes JE et al (2001) Influence of maternal and fetal glucokinase mutations in gestational diabetes. Am J Obstet Gynecol 185(1):240–241 DOI
Pearson ER, Boj SF, Steele AM et al (2007) Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med 4(4):e118 DOI
Steele AM, Wensley KJ, Ellard S, Murphy R, Shepherd M, Colclough K, Hattersley AT, Shields BM (2013) Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies. PLoS ONE 8(6):e65326 DOI
Rudland VL (2019) Diagnosis and management of glucokinase monogenic diabetes in pregnancy: current perspectives. Diabetes Meta Syndr Obes Targets Therapy 12:1081–1089. https://doi.org/10.2147/DMSO.S186610 DOI
Lachance CH (2016) Practical aspects of monogenic diabetes: a clinical point of view. Can J Diabetes 40(5):368–375 DOI
Dusatkova P, Pruhova S, Sumnik Z et al (2011) HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes. J Pediatr Endocrinol Metab 24(3–4):187–189 PubMed
Bell R, Glinianaia SV, Tennant PW et al (2012) Peri-conception hyperglycaemia and nephropathy are associated with risk of congenital anomaly in women with pre-existing diabetes: a population-based cohort study. Diabetologia 55:936–947. https://doi.org/10.1007/s00125-012-2455-y DOI
Kleinberger JW, Maloney KA, Pollin TI (2016) The genetic architecture of diabetes in pregnancy: implications for clinical practice. Am J Perinatol 33(13):1319–1326. https://doi.org/10.1055/s-0036-1592078 PubMed DOI PMC
Dickens LT, Naylor RN (2018) Clinical management of women with monogenic diabetes during pregnancy. Curr Diabetes Rep 18:12 DOI
Murphy R (2015) Monogenic diabetes and pregnancy. Obstet Med 8(3):114–120. https://doi.org/10.1177/1753495X15590713 PubMed DOI PMC
Hattersley AT, Beards F, Ballantyne E et al (1998) Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet 19(3):268–270 DOI
Shepherd M, Brook AJ, Chakera AJ et al (2017) Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer. Diab Med 34(10):13132–13139. https://doi.org/10.1111/dme.13388 DOI
Balsells M, García-Patterson A, Solà I et al (2015) Glibenclamide, metformin, and insulin for the treatment of gestational diabetes: a systematic review and meta-analysis. BMJ 2015(350):h102 DOI
Ellard S, Beards F, Allen LIS et al (2000) A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia 43(2):250–253 DOI
Rudland VL, Hinchcliffe M, Pinner J et al (2016) Identifying glucokinase monogenic diabetes in a multiethnic gestational diabetes mellitus cohort: new pregnancy screening criteria and utility of HbA PubMed DOI
Flack JR, Ross GP, Cheung NW (2015) GCK monogenic diabetes and gestational diabetes: possible diagnosis on clinical grounds. Diabet Med 32(12):1596–1601. https://doi.org/10.1111/dme.12830 PubMed DOI
Chakera AJ, Spyer G, Vincent N et al (2014) The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic diabetes in pregnancy cohort. Diabetes Care 37:1230–1236 DOI
Hattersley AT, Pearson ER (2006) Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes. Endocrinology 147(6):2657–2663 DOI
Alemu BT, Olayinka O, Baydoun HA et al (2017) Neonatal hypoglycemia in diabetic mothers: a systematic review. Curr Pediatr Res 21(1):42–53
Krejčí H (2018) Doporučený postup pro screening a péči o gestační diabetes—komentáře a praktické aspekty. DMEV 21(3):122–128
Anderlová K, Krejčí H, Pařízek A et al (2018) Jak probíhá současný screening těhotenské cukrovky? Výsledky dotazníkové studie. DMEV 21(3):131–135
Neonatal hypoglycaemia in the offsprings of parents with maturity-onset diabetes of the young (MODY)