Hereditary selective cobalamin malabsorption and concurrent pancreatitis in a young Border collie

Abstract

A one-year-old neutered male Border collie presented with failure to gain weight, lethargy, intermittent leucopenia, borderline anaemia and intermittent gastrointestinal symptoms. He was diagnosed with pancreatitis based on blood results and abdominal ultrasonography and hereditary selective cobalamin malabsorption based on hypocobalaminaemia, methylmalonic aciduria and genetic testing for cubilin mutation. The dog responded to oral cobalamin supplementation with resolution of clinical signs and normalisation of serum cobalamin. There was no recurrence of signs after 27 months of follow-up. An association between organic acidaemias and pancreatitis has been reported in humans but to the authors’ knowledge, this is the first report of hereditary selective cobalamin malabsorption and concurrent pancreatitis in a dog. Furthermore, this is the first report of inherited canine cobalamin deficiency responding to oral cobalamin supplementation.

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant

“…A study in cobalamin treated, affected dogs of the I-GS Giant Schnauzer line demonstrated significantly increased 25-hydroxyvitamin D 3 concentrations in urine, due to failed tubular reabsorption of vitamin D binding protein, and ~ 55% decreases of serum 25-hydroxyvitamin D 3 and 1,25-dihydroxyvitamin D 3 concentrations in serum [6]. Despite these biochemical abnormalities, we and others have observed no consequences of the proteinuria to the health of adequately cobalamin-treated I-GS affected dogs, regardless of breed and, therefore, gene or sequence variant [27, 28, 31, 41–43].…”

New insights into the etiology, risk factors, and pathogenesis of pancreatitis in dogs: Potential impacts on clinical practice

“…Diabetes mellitus, 12,24,25ac Hereditary/breed predispositions SPINK 1 mutation, 26,27b Acute: Terrier breeds, miniature poodles, dachshunds, cocker spaniel, Alaskan malamute, laika, miniature schnauzer 12,[28][29][30][31] Chronic: Cavalier King Charles spaniel, collies, boxers 32 Lipid disorders Hypertriglyceridemia 28,29,33 Miscellaneous Babesiosis [34][35][36] Canine monocytic ehrlichiosis 37 Schistosomiasis (Heterobilharzia americana) [38][39][40] Honeybee envenomation 41 Organic acidemias 42 Immunoglobulin G4-related disease 43,44 Increasing age 12 Obesity/overweight status 5,12 Neutered status 5,12 Previous surgery 5 Hepatitis/cholangitis 45 Note: Potential risk factors for AP in dogs. Many of these factors are implied by a temporal association alone and causation has not been established for many of these factors.…”

“…Many miscellaneous risk factors have been proposed for AP in dogs, including weight/neuter status, infectious diseases (eg, Babesia spp., Heterobilharzia americana, Leishmania infantum), hepatitis, honeybee envenomation, snake envenomation, hypercalcemia and organic acidemias. 5,12,41,42,45 Although dogs of any age can be affected by AP, most dogs are middle-aged to older. 12,30,31,92 Overweight animals and those who are neutered are also reported to be predisposed to AP.…”