title: [The rare syndromic forms of monogenic diabetes in childhood].
abstract: The most frequent form of diabetes in the childhood is type 1 diabetes. Moreover, the rare forms of diabetes have been also identified in children. Besides of neonatal diabetes caused by the mutations in KCNJ11, SUR1 and GCK genes, other forms of monogenic diabetes are associated with different chronic disorders. These rare forms of syndromic diabetes are related to mutations in genes which lead to Wolfram syndrome, Alström syndrome, Wolcott-Rallison syndrome or Roger's/TRMA syndrome. In this paper we discuss the clinical features of rare syndromic forms of monogenic diabetes, which gave suggestions on pathogenic mechanism of the diagnosed diabetes in childhood. This may be helpful for appropriate classification of the epidemiological, clinical and genetic data. It may be useful in the future to the form of the Polish National Survey of rare syndromic forms of monogenic diabetes in childhood.
authors.affiliation: Kliniki Chorób Dzieci l Katedry Pediatrii UM w Łodzi. agazmysl@poczta.onet.pl
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Zmysłowska
authors.forename: Jerzy
authors.initials: J
authors.lastname: Bodalski
authors.forename: Wojciech
authors.initials: W
authors.lastname: Młynarski
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000378:metabolism; D048868:Adaptor Proteins, Signal Transducing / Q000378:metabolism; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000145:classification* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000378:metabolism; D035583:Rare Diseases; D011955:Receptors, Drug / Q000378:metabolism; D064233:Sulfonylurea Receptors; D014929:Wolfram Syndrome / Q000235:genetics*; D000099161:Kcnj11 Channel
chemical_list: D018528:ATP-Binding Cassette Transporters; D048868:Adaptor Proteins, Signal Transducing; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel; C577507:ABCC8 protein, human; C485100:GCKR protein, human