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Diabetes og hörenedsaettelse på grund af mitokondriel punktmutation
Engelsk titel: Diabetes and hearing impairment due to mitochondrial mutation Läs online Författare: Lauterlein, Jens-Jacob ; Olsen, Inger ; Yderstraede, Knud ; Frost Nielsen, Morten Språk: Dan Antal referenser: 5 Dokumenttyp: Fallbeskrivning UI-nummer: 14117468

Tidskrift

Ugeskrift for Laeger 2014;176(19)1783-5 ISSN 0041-5782 E-ISSN 1603-6824 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)

Sammanfattning

Mutations in the mitochondrial genome can cause mito­chondrial diabetes. We present two cases in which the same mutation, mtDNA3243A>G, caused two different phenotypes: maternally inherited diabetes and deafness and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. Mitochondrial disease can imitate a variety of common con­ditions and should be considered in the case of multisystem disease, complex neurological symptoms or neurological symptoms combined with symptoms of other organ systems.