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Fanconi Syndrome
Metabolic Screening Submission
Form
About Metabolic Screening
Description:
The Fanconi syndrome indicates a generalized defect in amino acid reabsorption
in the kidney, but often refers to a more general renal tubular transport defect
leading to progressive renal disease. Fanconi syndrome is well recognized in
Basenjis and has been seen in other canine breeds with increased frequency,
but may be also be acquired. Hereditary defects may cause signs by a few years
of age and are progressive leading to death within a few years, whereas acquired
forms may be reversable. The mode of inheritance and specific nature of the
hereditary defects have not yet been identified.
Fanconi syndrome may be suspected in animals having glucosuria
despite a normal blood glucose level (no diabetes mellitus) with or without
renal failure. Further clinical diagnostic tests may indicate abnormal clearance
of sodium and phosphate. The Metabolic Genetic Disease Testing Laboratory of
the School of Veterinary Medicine at the University of Pennsylvania can screen
for generalized amino aciduria and lactic aciduria.
Affected Breeds:
Basenji
Norwegian Elkhound
Other Breeds
Required Samples:
Urine in a plastic vial, 5 mL
Price:
$30 each
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