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Fanconi–Bickel syndrome is a form of glycogen storage disease named for Guido Fanconi and Horst Bickel, who first described it in 1949. It is associated with GLUT2, a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons, and enterocytes of the intestines, and enter the blood. The syndrome results in hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature.

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  • Fanconi-Bickel-Syndrom (de)
  • Fanconi–Bickel syndrome (en)
  • Sindrom Fanconi-Bickel (in)
  • Zespół Fanconiego-Bickela (pl)
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  • Fanconi–Bickel syndrome is a form of glycogen storage disease named for Guido Fanconi and Horst Bickel, who first described it in 1949. It is associated with GLUT2, a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons, and enterocytes of the intestines, and enter the blood. The syndrome results in hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature. (en)
  • Zespół Fanconiego-Bickela, glikogenoza typu XI, GSD XI (ang. Fanconi-Bickel syndrome, FBS) – rzadka choroba genetyczna, dziedziczona w sposób autosomalny recesywny, spowodowana mutacją w obrębie genu kodującego białko błonowe transportujące glukozę – . Charakteryzuje się nadmiernym spichrzaniem glikogenu w wątrobie, zaburzeniami w obrębie proksymalnych cewek nerkowych i nieprawidłowym metabolizmem glukozy i galaktozy. Choroba została po raz pierwszy opisana w 1949 roku przez Guido Fanconiego i Horsta Bickela. (pl)
  • Das Fanconi-Bickel-Syndrom ist eine seltene angeborene Stoffwechselkrankheit und eine Form der Glykogenspeicherkrankheit. Dabei wird in Leber und Niere Glykogen gespeichert, es kommt zu Nierenfunktionsstörung, erhöhtem Blutzucker und Galactose (Einfachzucker). Synonyme sind: Glykogenose Typ XI; Glykogenspeicherkrankheit Typ XI (oder Typ 11); Bickel-Fanconi Glykogenose; GSD Typ XI; Glykogenose (GSD) durch GLUT2-Mangel; Aminosäurediabetes; Fanconi-Syndrom Die Erkrankung ist benannt nach den Erstbeschreibern von 1949, dem Schweizer Kinderarzt Guido Fanconi und dem Hamburger Arzt Horst Bickel. (de)
  • Sindrom Fanconi-Bickel (bahasa Inggris: Fanconi-Bickel syndrome, Glycogen storage disease type XI, Hepatorenal Glycogenosis with renal Fanconi Syndrome, Hepatic Glucogenosis with Fanconi Nephropathy, Hepatic Glycogenosis with amino aciduria and glucosuria, Fanconi syndrome with intestinal malabsorption and galactose intolerance, Pseudo-phlorizin diabetes, Fanconi type glycogenosis, FBS) adalah sebuah sindroma yang dikenali dan pada tahun 1949 yang merupakan komplikasi dari dan , yang ditandai dengan pengendapan glikogen hepatorenal, disfungsi tubular proksimal pada ginjal, dan degradasi metabolisme karbohidrat termasuk utilisasi glukosa dan galaktosa, walaupun tidak disertai oleh disfungsi , sejenis enzim yang mengurai kedua zat gula tersebut. (in)
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  • E74.0 (en)
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  • Das Fanconi-Bickel-Syndrom ist eine seltene angeborene Stoffwechselkrankheit und eine Form der Glykogenspeicherkrankheit. Dabei wird in Leber und Niere Glykogen gespeichert, es kommt zu Nierenfunktionsstörung, erhöhtem Blutzucker und Galactose (Einfachzucker). Synonyme sind: Glykogenose Typ XI; Glykogenspeicherkrankheit Typ XI (oder Typ 11); Bickel-Fanconi Glykogenose; GSD Typ XI; Glykogenose (GSD) durch GLUT2-Mangel; Aminosäurediabetes; Fanconi-Syndrom Die Erkrankung ist benannt nach den Erstbeschreibern von 1949, dem Schweizer Kinderarzt Guido Fanconi und dem Hamburger Arzt Horst Bickel. Die Erkrankung ist nicht zu verwechseln mit dem De-Toni-Fanconi-Syndrom, einer Nierenerkrankung. (de)
  • Fanconi–Bickel syndrome is a form of glycogen storage disease named for Guido Fanconi and Horst Bickel, who first described it in 1949. It is associated with GLUT2, a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons, and enterocytes of the intestines, and enter the blood. The syndrome results in hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature. (en)
  • Sindrom Fanconi-Bickel (bahasa Inggris: Fanconi-Bickel syndrome, Glycogen storage disease type XI, Hepatorenal Glycogenosis with renal Fanconi Syndrome, Hepatic Glucogenosis with Fanconi Nephropathy, Hepatic Glycogenosis with amino aciduria and glucosuria, Fanconi syndrome with intestinal malabsorption and galactose intolerance, Pseudo-phlorizin diabetes, Fanconi type glycogenosis, FBS) adalah sebuah sindroma yang dikenali dan pada tahun 1949 yang merupakan komplikasi dari dan , yang ditandai dengan pengendapan glikogen hepatorenal, disfungsi tubular proksimal pada ginjal, dan degradasi metabolisme karbohidrat termasuk utilisasi glukosa dan galaktosa, walaupun tidak disertai oleh disfungsi , sejenis enzim yang mengurai kedua zat gula tersebut. FBS disebabkan oleh mutasi atau komposit pada gen pada GLUT2. (in)
  • Zespół Fanconiego-Bickela, glikogenoza typu XI, GSD XI (ang. Fanconi-Bickel syndrome, FBS) – rzadka choroba genetyczna, dziedziczona w sposób autosomalny recesywny, spowodowana mutacją w obrębie genu kodującego białko błonowe transportujące glukozę – . Charakteryzuje się nadmiernym spichrzaniem glikogenu w wątrobie, zaburzeniami w obrębie proksymalnych cewek nerkowych i nieprawidłowym metabolizmem glukozy i galaktozy. Choroba została po raz pierwszy opisana w 1949 roku przez Guido Fanconiego i Horsta Bickela. (pl)
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  • 31709
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  • E74.0
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  • 2088
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