Erstmaliger Nachweis des SLC2A9:p.C188F Gendefekts bei einem Deutschen Jagdterrier mit Ammoniumurat-Urolithiasis

Zusammenfassung

Ein 1,5-jähriger, männlich intakter Deutscher Jagdterrier wurde erstmalig 2018 mit Hämaturie vorstellig. In einer abdominalen Ultraschalluntersuchung wurden multiple hyperechogene Strukturen in der Harnblase festgestellt. Eine Urinuntersuchung wies auf eine hochgradige Ammoniumurat- oder Xanthin-Kristallurie hin. Erst nach einer Zystotomie und einer Harnsteinanalyse konnte 2019 eine Ammoniumurat-Urolithiasis diagnostiziert werden. Der Patient wurde homozygot für die SLC2A9:p.C188F Variante, welche in eine hochgradige Hyperurikämie und Hyperurikosurie resultiert, getestet. Diese Kasuistik berichtet über den ersten publizierten Fall eines Deutschen Jagdterriers, bei dem die SLC2A9:p.C188F Variante nachgewiesen wurde. Die Leserschaft soll dafür sensibilisiert werden, dass dieser Gendefekt auch in anderen Rassen als Dalmatinern auftreten kann.

Abstract

A 1,5-year-old intact male German Hunting Terrier was initially presented 2018 with hematuria. An abdominal ultrasound revealed multiple hyperechogenic structures in the urinary bladder. A urinalysis indicated severe crystalluria (ammonium urate or xanthine). Following cystotomy and urinary calculus analysis, ammonium urate urolithiasis was diagnosed in 2019. The patient was tested homozygous at the SLC2A9:p.C188F variant, which results in severe hyperuricemia and hyperuricosuria. This case report presents the first incidence of the SLC2A9:p.C188F gene variant being detected in a German Hunting Terrier. Veterinary practitioners are encouraged to consider the possibility of this gene defect presenting in breeds beyond the Dalmatian.

Schlüsselwörter

Hyperurikosurie (HUU) - Harnstein - SLC2A9-Gendefekt - Hund

Keywords

Hyperurikosuria (HUU) - urinary calculus - SLC2A9 gene defect - dog

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