HEREDITARY FANCONI SYNDROME

Researchers at the Deubler Genetic Disease Testing Laboratory have discovered and characterized many canine hereditary diseases and developed and established tests to detect not only affected dogs but also asymptomatic carriers. Metabolic screening for hereditary Fanconi syndrome in the Norwegian Elkhound and the Basenji, as well as other breeds, is now available through PennGen. According to Steven Gonto, MMSc, PhD/Medical Sciences, whether the affected dog is Basenji or Norwegian Elkhound, there is "absolutely no reason to believe it is not the exact same disease with the exact same symptoms and treatment needs." Because the kidneys cannot reabsorb the abnormal metabolites, the most useful specimens are urine samples. Sample submission details can be obtained at www.vet.upenn.edu/penngen or contact Dr. Urs Giger, Room 4006, 3850 Spruce Street VHUP, Philadelphia, PA 19104-6010, phone (215) 898-3374 or e-mail Penngen@vet.upenn.edu.

Disease/Tests	Affected Breeds	Required Samples	Amount	Container	Type of Tests	Prices
Fanconi Syndrome	Basenji, Norwegian Elkhound, other breeds	Urine	5ml	Plastic vial	Urine/metabolic test	$30.00

University of Pennsylvania School of Veterinary Medicine Section of Medical Genetics Metabolic Screening Laboratory #12345 Urine (Norwegian Elkhound)
Nitroprusside Test	Negative
Clinitest/Clinistix	Negative
Amino Acide	Slightly increased glutamine Slightly increased homocitrulline Slightly increased glycine
Carbohydrates	Negative
Organic Acids	Negative
Interpretation: Based on these test results, there is no evidence of a Fanconi syndrom. In fact, the sample we received contained no glucose, and thus, this animal does not presently appear to have glucosuria as often seen in this breed. Alternatively, the sample may have suffered during submission and thus, glucose was degraded. *Nitroprusside Test* - used in the diagnosis of diabetic ketoacidosis *Clinitest/Clinistic* - used to measure urine glucose, galatose, fructose content

Fanconi syndrome is a renal disorder, usually genetic in origin, caused by a partial defect in the proximal renal tubule. This condition causes a reduction in the reabsorption of bicarbonate, glucose and filtered proteins from the proximal tubular cells of the kidney back into the bloodstream. A urinalysis may show abnormalities, including excessive glucose, amino acids, phosphate, bicarbonate and calcium losses, as filtration from the kidney becomes abnormal. Blood chemistries may indicate metabolic acidosis, an acidic state caused by changes in acid neutralizing bicarbonate levels. The acidic condition of the body can cause calcium to dissolve from the bones. Excessive calcium accumulates in the bloodstream and is excreted by the kidneys. Look especially for deficiencies in sodium, potassium, calcium and phosphorus. A potential for a bladder and kidney infection is likely due to the glucose and pH situation (<5.5). Fanconi syndrome is often misdiagnosed as diabetes mellitus or Cushing's syndrome. According to Scott A. Brown, VMD, University of Georgia College of Veterinary Medicine, "A diagnosis of Fanconi's syndrome should be suspected whenever polyuria (excessive urination) and normoglycemic (normal blood sugar level) glucosuria (sugar in the urine) are identified, especially in a dog receiving gentamicin therapy or in a Basenji or Norwegian Elkhound." To reduce its effects and complications, which can be permanent and/or life threatening, Fanconi syndrome must be treated. Reduced kidney filtration may be present, which is frequently the case with the hereditary form in Norwegian Elkhounds. The complications will become more severe if left untreated and lead to deteriorating renal function, usually resulting in death. Alkaline medications such as sodium bicarbonate and potassium citrate are administered to correct the acidic condition of the body and to correct low potassium levels. With eary detection and long-term monitoring of blood chemistry, prospects are excellent that the disorder will be inconsequential to the dog's life span.

A word of caution - negative results on a Fanconi syndrome test do not rule out other renal disorders.

© June 2000, all rights reserved, NEAA Canine Health and Research Committee Permission to reproduce and distribute this document is granted by the autho. Original written material may be reprinted provided due credit is given. Articles are printed over the signature of the author and are not necessarily the opinion of the Norwegian Elkhound Association of America, Inc.

The Canine Health and Research Committee of the Norwegian Elkhound Association of America, Inc. presents the information contained in this document as a courtesy to the Norwegian Elkhound fancy. Members of the Committee have no knowledge as to the appropriateness of any treatment or infomration set forth in this document and makes no representation as such. If you have questions or desire additional information with regard to any of the material in this publication, you must contact the NEAA Canine Health and Reearch Committee.