Hereditary xanthinuria in a goat

Krystal J. Vail, Nicole M. Tate, Tasha Likavec, Katie M. Minor, Philippa M. Gibbons, Raquel R. Rech, Eva Furrow

Research output: Contribution to journalArticle

Abstract

A 2-year-old mixed breed goat was presented for a 1-day history of anorexia and 1 week of weight loss. Serum biochemistry disclosed severe azotemia. Abdominal ultrasound examination showed decreased renal corticomedullary distinction, poor visualization of the renal pelves, and dilated ureters. On necropsy, the kidneys were small, the pelves were dilated, and the medulla was partially effaced by variably sized yellow nephroliths. Histologically, cortical and medullary tubules were distended by yellow-brown, multilayered crystals. Stone composition was 100% xanthine. Exonic sequencing of xanthine dehydrogenase (XDH) and molybdenum cofactor sulfurase (MOCOS) identified 2 putative pathogenic variants: a heterozygous XDH p.Leu128Pro variant and a homozygous MOCOS p.Asp303Gly variant. Variant frequencies were determined in 7 herd mates, 12 goats undergoing necropsy, and 443 goats from genome databases. The XDH variant was not present in any of these 462 goats. The MOCOS variant allele frequency was 0.03 overall, with 3 homozygotes detected. Hereditary xanthinuria is a recessive disorder in other species, but the XDH variant could be causal if the case goat is a compound heterozygote harboring a second variant in a regulatory region not analyzed or if the combination of the XDH and MOCOS variants together abolish XDH activity. Alternatively, the MOCOS variant alone could be causal despite the presence of other homozygotes, because hereditary xanthinuria in humans often is asymptomatic. Ours is the first report describing the clinical presentation and pathology associated with xanthine urolithiasis in a goat. The data support hereditary xanthinuria, but functional studies are needed to conclusively determine the causal variant(s).

Original languageEnglish (US)
Pages (from-to)1009-1014
Number of pages6
JournalJournal of veterinary internal medicine
Volume33
Issue number2
DOIs
StatePublished - Mar 1 2019

Fingerprint

Xanthine Dehydrogenase
xanthine dehydrogenase
Goats
molybdenum
goats
xanthine
Xanthine
pelvis
kidneys
Homozygote
homozygosity
necropsy
Azotemia
Kidney
ureter
Kidney Pelvis
Clinical Pathology
Urolithiasis
uremia
Nucleic Acid Regulatory Sequences

Keywords

  • MOCOS
  • caprine
  • kidney
  • urinary system
  • urolith
  • xanthine

PubMed: MeSH publication types

  • Case Reports

Cite this

Vail, K. J., Tate, N. M., Likavec, T., Minor, K. M., Gibbons, P. M., Rech, R. R., & Furrow, E. (2019). Hereditary xanthinuria in a goat. Journal of veterinary internal medicine, 33(2), 1009-1014. https://doi.org/10.1111/jvim.15431

Hereditary xanthinuria in a goat. / Vail, Krystal J.; Tate, Nicole M.; Likavec, Tasha; Minor, Katie M.; Gibbons, Philippa M.; Rech, Raquel R.; Furrow, Eva.

In: Journal of veterinary internal medicine, Vol. 33, No. 2, 01.03.2019, p. 1009-1014.

Research output: Contribution to journalArticle

Vail, KJ, Tate, NM, Likavec, T, Minor, KM, Gibbons, PM, Rech, RR & Furrow, E 2019, 'Hereditary xanthinuria in a goat', Journal of veterinary internal medicine, vol. 33, no. 2, pp. 1009-1014. https://doi.org/10.1111/jvim.15431
Vail KJ, Tate NM, Likavec T, Minor KM, Gibbons PM, Rech RR et al. Hereditary xanthinuria in a goat. Journal of veterinary internal medicine. 2019 Mar 1;33(2):1009-1014. https://doi.org/10.1111/jvim.15431
Vail, Krystal J. ; Tate, Nicole M. ; Likavec, Tasha ; Minor, Katie M. ; Gibbons, Philippa M. ; Rech, Raquel R. ; Furrow, Eva. / Hereditary xanthinuria in a goat. In: Journal of veterinary internal medicine. 2019 ; Vol. 33, No. 2. pp. 1009-1014.
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