ABSTRACT
A female Lagotto Romagnolo dog with polycystic kidney disease (PKD) and her progeny, including PKD-affected offspring, were studied. All affected dogs appeared clinically inconspicuous, while sonography revealed the presence of renal cysts. The PKD-affected index female was used for breeding and produced two litters with six affected offspring of both sexes and seven unaffected offspring. The pedigrees suggested an autosomal dominant mode of inheritance of the trait. A trio whole genome sequencing analysis of the index female and her unaffected parents identified a de novo heterozygous nonsense variant in the coding region of the PKD1 gene. This variant, NM_001006650.1:c.7195G>T, is predicted to truncate 44% of the open reading frame of the wild-type PKD1 protein, NP_001006651.1:p.(Glu2399*). The finding of a de novo variant in an excellent functional candidate gene strongly suggests that the PKD1 nonsense variant caused the observed phenotype in the affected dogs. Perfect co-segregation of the mutant allele with the PKD phenotype in two litters supports the hypothesized causality. To the best of our knowledge, this is the second description of a PKD1-related canine form of autosomal dominant PKD that may serve as an animal model for similar hepatorenal fibrocystic disorders in humans.
Subject(s)
Heredity , Polycystic Kidney, Autosomal Dominant , Humans , Male , Female , Animals , Dogs , Polycystic Kidney, Autosomal Dominant/genetics , Pedigree , Phenotype , HeterozygoteABSTRACT
A 2-year old cross-breed dog presented due to acute vomiting and progressive lethargy following ingestion of the owner's anti-gout medication (colchicine, 0.35 mg/kg) 1-3 hours prior to presentation.The dog developed signs of all 3 stages of colchicine poisoning (gastrointestinal phase, multi-organ phase, recovery phase) and the clinical course was complicated by the presence of multi-organ dysfunction syndrome (MODS) and numerous negative prognostic factors.This case report describes the clinical and laboratory effects of colchicine poisoning and represents the first successful treatment of an accidental colchicine ingestion in a dog in Europe.
Subject(s)
Colchicine , Dog Diseases , Acute Disease , Animals , Colchicine/poisoning , Dog Diseases/chemically induced , Dog Diseases/diagnosis , Dog Diseases/drug therapy , Dogs , Europe , Vomiting/chemically induced , Vomiting/veterinaryABSTRACT
A 6-month-old French bulldog was presented due to chronic large intestinal diarrhea of 4â months duration. The diagnostic procedures initiated by the referring veterinarian had resulted in a tentative diagnosis of chronic enteropathy, however treatment consisting of elimination diet as well as antibiotic, anthelmintic, anti-inflammatory and immunosuppressive medication had been unsuccessful. By means of endoscopy and histological examination, pronounced erosions and ulcerations of the colonic mucosa were detected. Fluorescence in situ hybridization enabled the identification of invasive Escherichia coli within the colonic mucosa and colonic macrophages, allowing for the diagnosis of granulomatous colitis. The dog showed complete remission of clinical signs following 8â weeks of treatment with enrofloxacin. This case report describes the first successful treatment of granulomatous colitis with enrofloxacin in a French bulldog puppy in Germany and is intended to sensitize the reader to this disease in (young) dogs.
Subject(s)
Crohn Disease , Dog Diseases , Animals , Anti-Bacterial Agents/therapeutic use , Crohn Disease/drug therapy , Crohn Disease/veterinary , Diarrhea/drug therapy , Diarrhea/veterinary , Dog Diseases/diagnosis , Dog Diseases/drug therapy , Dogs , In Situ Hybridization, Fluorescence/veterinaryABSTRACT
BACKGROUND: Decreased reticulocyte hemoglobin content (CHr) (Siemens ADVIA 2120) reflects iron-limited erythropoiesis (ILE). RETIC-HGB (IDEXX ProCyte Dx) is a novel marker of ILE for veterinary use. OBJECTIVES: We aimed to evaluate reference intervals (RIs) and the utility of RETIC-HGB and CHr in the diagnosis of feline ILE. MATERIALS AND METHODS: RIs were established in 59 healthy cats. Intra-assay coefficients of variation (CVs) and correlations between RETIC-HGB and CHr were assessed. Two hundred and seventy-five cats were classified as having ILE or not based on low plasma iron or low transferrin saturation along with anemia and/or altered RBC indices. CHr, RETIC-HGB, and serum amyloid A (SAA) were compared between the groups. The sensitivity and specificity of RETIC-HGB and CHr to diagnose ILE were analyzed to determine the RI lower limits. RESULTS: RIs for RETIC-HGB and CHr were 12.5-18.0 and 14.0-19.9 pg, respectively. The CV was 3% for both variables. RETIC-HGB and CHr were moderately correlated (rs = 0.59) with a bias of -1.2 picograms (pgs). Twenty of the 275 cats were classified as having ILE. Compared with non-ILE cats, ILE cats had significantly lower median RETIC-HGB (14.3 vs 15.2 pg, P = .0046) and mean CHr (14.7 vs 16.5 pg, P < .0001) values and significantly increased median SAA (44.6 vs 2.3 µg/dl, P < .0001) values. Using the lower RI limits resulted in a low sensitivity and relatively high specificity to diagnose ILE in cats. CONCLUSIONS: ILE was characterized by decreased CHr and RETIC-HGB; however, sensitivity was low. The moderate correlation between RETIC-HGB and CHr is likely due to species differences and different methodology.