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MODY-Diabetes

Zeitschrift:: Journal für Klinische Endokrinologie und Stoffwechsel > Ausgabe 4/2019

Autor:: Univ.-Prof. DI Dr. Sabina Baumgartner-Parzer

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Ohne Zusammenfassung

Rubio-Cabezas O, Hattersley AT, Njolstad PR, Mlynarski W, Ellard S, White N, Chi DV, Craig ME, International Society for Pediatric and Adolescent Diabetes (2014) ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 15(Suppl. 20):47–64 CrossRef

Kim SH (2015) Maturity-onset diabetes of the young: what do clinicians need to know? Diabetes Metab J 39(6):468–477 CrossRef

Hattersley AT, Patel KA (2017) Precision diabetes: learning from monogenic diabetes. Diabetologia 60:769–777 CrossRef

Amed S, Oram R (2016) Maturity-onset diabetes of the young (MODY): making the right diagnosis to optimize treatment. Can J Diabetes 40(5):449–454 CrossRef

Schwitzgebel VM (2014) Many faces of monogenic diabetes. J Diabetes Investig 5:121–133 CrossRef

Owen KR (2018) Monogenic diabetes in adults: what are the new developments? Curr Opin Genet Dev 50:103–110 CrossRef

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 51:546–533 CrossRef

Bellanné-Chantelot C, Carette C, Riveline JP, Valéro R, Gautier JF, Larger E et al (2008) The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes 57(2):503–508 CrossRef

Yorifuji T, Fujimaru R, Hosokawa Y, Tamagawa N, Shiozaki M, Aizu K, Jinno K, Maruo Y, Nagasaka H, Tajima T, Koboyashi K, Urakami T (2012) Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. Pediatr Diabetes 13:26–32 CrossRef

10.

Chakera AJ, Steele AM, Gloyn AL, Sheperd MH, Shields B, Ellard S, Hattersley AT (2015) Recognition and management of individuals with hyperglycemia because of a heterozygous glucokinase mutation. Diabetes Care 38:1383–1392 CrossRef

11.

Froguel P, Vaxillaire M, Sun F, Velh G, Zouali H, Butel MO, Lesage S, Vionnet N, Clément K, Fougerousse F et al (1992) Close linkage of glucokinase locus on chromosome 7p to early onset non insulin dependent diabetes mellitus. Nature 356:162–164 CrossRef

12.

Chakera AJ, Spyer G, Vincent N, Ellard S, Hattersley AT, Dunne FP (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 CrossRef

13.

Rudland VL (2019) Diagnosis and management of glucokinase monogenic diabetes in pregnancy: current perspectives. Diabetes Metab Syndr Obes 12:1081–1089 CrossRef

14.

Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R (2010) Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 6:1079–1090 CrossRef

15.

Shepherd M, Ellis I, Ahmad AM, Todd PJ, Bowen-Jones D, Mannion G, Ellard S, Sparkes AC, Hattersley AT (2001) Predictive genetic testing in maturity-onset diabetes of the young (MODY). Diabet Med 18:417–421 CrossRef

16.

Ellard S, Lango AH, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JA, Shepherd M, Hattersley AT, Weedon MN, Caswell R (2013) Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia 56:1958–1963 CrossRef

17.

Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson St, Brosnan MJ, Trimmer JK, Newton-Cheh C, Tuomi T, Molven A, Wilson JG, O’Donnell CJ, Kathiresan S, Hirschhorn JN, Njølstad PR, Rolph T, Seidman JG, Gabriel St, Cox DR, Seidman C, Groop L, Altshuler D (2013) Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet 45:1380–1385 CrossRef

18.

MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sonyaey SR, Valle D, Voight BF, Winckler W, Gunter C (2014) Guidelines for investigating causality of sequence variants in human disease. Nature 508:469–476 CrossRef

19.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424 CrossRef

20.

Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN (2017) Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance. Nat Commun 8:888 CrossRef

Titel: MODY-Diabetes
Autor:: Univ.-Prof. DI Dr. Sabina Baumgartner-Parzer
Publikationsdatum: 14.11.2019
Schlagwörter: Andere spezifische Diabetes-Typen
Diabetes
DOI: https://doi.org/10.1007/s41969-019-00085-6
Verlag: Springer Vienna
Zeitschrift: Journal für Klinische Endokrinologie und Stoffwechsel Austrian Journal of Clinical Endocrinology and Metabolism
Ausgabe 4/2019
Print ISSN: 1998-7773
Elektronische ISSN: 1998-7781

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