[Fanconi-Bickel-Syndrom: a novel genetic disease in Original Braunvieh].

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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV)
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > Clinic for Ruminants
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP) > Institute of Animal Pathology
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

UniBE Contributor:

Joller, Sara; Stettler, Manuela Hanna; Locher, Iwan; Dettwiler, Martina Andrea; Meylan, Mireille and Drögemüller, Cord

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health
600 Technology > 630 Agriculture

ISSN:

0036-7281

Publisher:

Gesellschaft Schweizer Tierärztinnen und Tierärzte

Language:

German

Submitter:

Cord Drögemüller

Date Deposited:

18 Apr 2018 17:02

Last Modified:

25 Oct 2019 02:25

Publisher DOI:

10.17236/sat00152

PubMed ID:

29509141

Uncontrolled Keywords:

FH2 GLUT2 Gendefekt Glykogenspeicherkrankheit, SLC2A2 Minderwuchs Rind cattle genetic defect glycogen storage disease, SLC2A2 stunted growth

BORIS DOI:

10.7892/boris.112586

URI:

https://boris.unibe.ch/id/eprint/112586

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