Joller, Sara; Stettler, Manuela Hanna; Locher, Iwan; Dettwiler, Martina Andrea; Seefried, F; Meylan, Mireille; Drögemüller, Cord (2018). [Fanconi-Bickel-Syndrom: a novel genetic disease in Original Braunvieh]. Schweizer Archiv für Tierheilkunde, 160(3), pp. 179-184. Gesellschaft Schweizer Tierärztinnen und Tierärzte 10.17236/sat00152
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INTRODUCTION
This case report describes a new genetic disease of the Braunvieh breed in Switzerland. The bovine disorder also occurs in German Fleckvieh, and corresponds to human Fanconi-Bickel syndrome which is an inherited glycogen storage disease caused by mutations of the SLC2A2 gene encoding the glucose transporter GLUT2. This case report describes a single affected Original Braunvieh calf genotyped as homozygous for the FH2-associated SLC2A2 frame shift mutation. The clinical examination showed stunted growth, polyuria and polydipsia, as well as poor claw horn and coat quality. Necropsy revealed a pale cortex of the kidneys and a unilateral renal hypoplasia. Histology showed tubulonephrosis of the proximal tubules with protein- and glucose-rich contents. Glycogen accumulation was not evident in any organ. This finding is different from the reported lesions in two previously described GLUT2-deficient Fleckvieh heifers. In the presented case, growth retardation mainly seems to be associated with renal dysfunction. A direct gene test is available to eliminate the mutant allele from the population.
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