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How is Fanconi Syndrome Diagnosed

2012-10-19 17:24

Fanconi Syndrome is a condition that affects the proximal renal tubules of the kidneys. The disease can be an inborn genetic kidney disorder or secondary to another medical condition that affects proximal renal tubular functions. People with this disease typically experience retarded growth, electrolyte disorders, acidosis, etc. Clinical diagnosis of Fanconi Syndrome is made based on the clinical presence in the patients.

The proximal tubules of the kidneys that is affected in Fanconi Syndrome is the first part of tubule to process the fluid after it is filtered through the glomerulis. When the proximal tubules are damaged, such substances as glucose, uric acid, bicarbonates and phosphates that ought be absorbed are filtered into urine instead.

The diagnosis of Fanconi Syndrome mainly include the following points:

﹡Renal tubular acidosis, especially proximal renal tubular acidosis;

﹡Rickets and retarded growth due loss of phosphates, glucose and amino acids.

﹡Thirst, excessive urination, dehydration and thirst. Reduced tubular concentration functions and loss of such solutes as glucose and amino acids and will cause excessive urination, so people are dehydrated and feel very thirsty.

﹡Normal plasma amino acid levels but full aminoaciduria; normal blood sugar reading but positive urine sugar result

﹡Electrolyte disorders, including low potassium high chloride levels, hypocalcemia, hypophosphatemia, hyponatremia, and elevated urinary potassium and phosphorus levels.

﹡Slight to moderate renal tubular proteinuria. Test will be done to confrim if the patient has proteinuria and whether proteinuria results from tubular damage.

The same as any other disease, early detection and prevention helps improve prognosis in Fanconi Syndrome. Proximal renal tubular damage that can caused by many conditions, such as Multiple Myeloma, Nephrotic syndrome, Cystine disease, etc may cause Fanconi Syndrome. If you presented any sign of the disease, see a doctor for treatment as early as possible.

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