[Familial incidence of juvenile diabetes mellitus and primary optic atrophy (author's transl)].
The syndrome of juvenile diabetes mellitus, primary optic atrophy and hydronephrosis, hydroureter and megacystis was observed in two brothers. One patient showed consistent elevation of the plasma creatine phosphokinase activity (isoenzymes MM 71%, MB 29%), without any sign of myocardial or skeletal muscle disease. This rare syndrome is inherited in an autosomal recessive manner. It has not yet been reported in Austria, to our knowledge.
D002648:Child; D003402:Creatine Kinase / Q000378:metabolism; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000235:genetics; D006801:Humans; D006869:Hydronephrosis / Q000209:etiology; D007527:Isoenzymes / Q000378:metabolism; D008297:Male; D009896:Optic Atrophy / Q000209:etiology*; D010375:Pedigree; D013577:Syndrome; D001745:Urinary Bladder Diseases / Q000209:etiology
D007527:Isoenzymes; D003402:Creatine Kinase
Familiäres Vorkommen von juvenilem Diabetes mellitus und primärer Optikusatrophie.