Fanconi syndrome in dogs

Fanconi syndrome in dogs

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Fanconi syndrome in dogs can manifest as either the acquired or congenital type. Acquired Fanconi syndrome has been reported as a result of a wide range of disease conditions in which one or more of the Fanconi syndrome‐associated metabolites are abnormally elevated, including toxic substances (e.g., arsenic), nutritional (e.g., thiamine deficiency, vitamin A deficiency), metabolic (e.g., hereditary disorders), or immune (e.g., hyperadrenocorticism) disorders.[1](#jvim14562-bib-0001){ref-type="ref"} Congenital type Fanconi syndrome results from lack of the enzyme aldolase B (ALDOB), and this enzyme is required for normal folic acid and vitamin B~6~ metabolism. The resulting Fanconi syndrome manifests in affected dogs as a combination of hematological, urinary, and gastrointestinal clinical signs. In humans, congenital Fanconi syndrome is most commonly caused by mutations in the ALDOB gene. Mutations in the ALDOB gene are responsible for the majority of cases of congenital Fanconi syndrome in humans.[2](#jvim14562-bib-0002){ref-type="ref"}, [3](#jvim14562-bib-0003){ref-type="ref"} There is a large body of evidence to support the use of supplementation with either folic acid and vitamin B~6~ or with folic acid alone to successfully treat congenital Fanconi syndrome in people.[4](#jvim14562-bib-0004){ref-type="ref"}, [5](#jvim14562-bib-0005){ref-type="ref"}, [6](#jvim14562-bib-0006){ref-type="ref"} Anecdotal reports also exist for the use of folic acid and vitamin B~6~ supplementation in dogs with congenital Fanconi syndrome,[7](#jvim14562-bib-0007){ref-type="ref"}, [8](#jvim14562-bib-0008){ref-type="ref"} although the response to treatment in these dogs is not well described. To our knowledge, there are only 2 published reports of naturally occurring canine congenital Fanconi syndrome in dogs. In a 1‐year‐old mixed breed female with a history of diarrhea, polyuria, vomiting, and weight loss, hyperchloremic metabolic acidosis, hypokalemia, hyperphosphatemia, hyperbilirubinemia, and hypoglycemia were identified in the absence of any clinical evidence of infectious disease.[9](#jvim14562-bib-0009){ref-type="ref"} Because the dog was euthanized shortly after the clinical presentation was recognized, the patient did not receive any type of treatment to treat the disease. In a second report of 4 dogs in the United Kingdom with congenital Fanconi syndrome, 2 dogs had an absence of ALDOB expression in the liver and were subsequently treated with folic acid and vitamin B~6~.[8](#jvim14562-bib-0008){ref-type="ref"} In these dogs, both clinical signs and biochemical abnormalities resolved after 6 months of treatment.

The purpose of the current study was to describe the clinical, biochemical, hematologic, and urinalysis findings in a dog that was referred for evaluation of progressive azotemia and proteinuria. This dog had been experiencing diarrhea, polyuria, and weight loss for >,2 months. This report describes the results of a diagnostic evaluation in which clinical findings were initially attributed to a diagnosis of infectious enteritis and protein‐losing enteropathy, but it is hypothesized that congenital Fanconi syndrome was the cause of the clinical signs in this dog.

Materials and Methods {#jvim14562-sec-0002}


Case Description {#jvim14562-sec-0003}


A 3‐year‐old male spayed female dog was evaluated for progressive azotemia and proteinuria. The dog had no clinical evidence of systemic illness. On physical examination, mild abdominal distention was noted, with palpable abdominal effusion, and moderate ascites. No abnormalities were noted on auscultation of the lungs or heart. The mucous membranes were moist. A complete blood cell count (CBC) was performed at the time of initial presentation (May 2014), and serum biochemistry and urinalysis were performed on samples collected at the time of initial presentation. A complete blood count revealed a total white blood cell count of 12.5 × 10^9^ cells/L (reference interval, 5.5--15.5 × 10^9^ cells/L) with a differential leukocyte count of a mild increase in segmented neutrophils (67%, reference interval, 40--70%), mild lymphocytosis (25%, reference interval, 10--40%), and mild monocytosis (8%, reference interval, 1--10%) with a platelet count of 243 × 10^9^ cells/L (reference interval, 150--450 × 10^9^ cells/L). Serum biochemistry revealed a serum urea nitrogen concentration of 393 mg/dL (reference interval, 15--40 mg/dL), creatinine concentration of 3.1 mg/dL (reference interval, 0.7--1.6 mg/dL), bile acids concentration of 26 mg/dL (reference interval, <,10 mg/dL), chloride concentration of 123 mmol/L (reference interval, 98--106 mmol/L), alkaline phosphatase concentration of 791 IU/L (reference interval, 170--400 IU/L), and alanine aminotransferase concentration of 18 IU/L (reference interval, 25--50 IU/L). Urinalysis revealed the presence of 1--4 urinary casts per high‐power field (400×) (reference interval, none), large proteinuria with a protein to creatinine ratio of 1.4 (reference interval, 0--0.8), a large amount of white blood cells per high‐

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