Test Detail

Fanconi syndrome (Basenji)

Renal / urinario · Dog

Molecular test for Basenji Fanconi syndrome, a hereditary renal tubulopathy that alters proximal tubular reabsorption of glucose, amino acids and other solutes. It affects the renal/urinary system and causes polyuria-polydipsia, glucosuria with normoglycemia and, in advanced stages, renal failure. The test reports clear/carrier/affected status.
Inheritance patternAutosomal recessive (OMIA:002683-9615).
Gene / MutationFAN1 (chromosome 3): 317 bp deletion in exon 14 (c.2954_3090+181del; p.Leu985ValfsTer19), from the second nucleotide of exon 14 to the 3'UTR.
PenetranceHigh penetrance in homozygotes, with almost complete concordance between genotype and phenotype in the dogs studied; an occasional homozygous dog without signs and with late onset has been described. Heterozygotes are asymptomatic. Age of onset and progression vary.
Codenwhq
Turnaround time15 days
Price52,60 €

Incidence

Applicable breed: Basenji. The FAN1 deletion has been associated with the syndrome in the breed; carrier figures vary between populations and are not consolidated by country.

Breeder management

- Genotype breeding dogs before mating\n- Do not mate carrierĂ—carrier (25% risk of affected homozygotes); carrierĂ—clear produces 0% affected and 50% carriers\n- An affected animal should not be bred; a carrier can be mated to a clear dog without producing affected offspring\n- After a confirmed clinical case, do not repeat the parental mating and communicate the status to the buyer

Specialist notes

Confirmation by urinalysis (glucosuria with normoglycemia) and renal biochemistry. Differentiate from diabetes mellitus and from other acquired or toxic renal tubulopathies. Symptomatic management: bicarbonate supplementation, acid-base balance control, hydration and monitoring of renal function.

References

1. Farias FHG, et al. FAN1 deletion variant in Basenji dogs with Fanconi syndrome. Genes (Basel). 2024;15(11):1469. PMID: 39596669
2. Bovee KC, et al. The Fanconi syndrome in Basenji dogs: a new model for renal transport defects. Science. 1978;201(4361):1129-1131. PMID: 684432
3. Yearley JH, et al. Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome. J Am Vet Med Assoc. 2004;225(3):377-383. PMID: 15328712
4. Bax HA. [Inventory of Fanconi syndrome in Basenji dogs in The Netherlands]. Tijdschr Diergeneeskd. 2005;130(16):472-474. PMID: 16130757

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