Fanconi syndrome diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Diagnostic Study of Choice
Study of choice
- There is no single diagnostic study of choice for the diagnosis of Fanconi syndrome, but it can be diagnosed based on clinical presentation and laboratory tests.
- Labratory findings are more fundamental than anything else to confirm the diagnosis. The laboratory tests usually are performed when:
- The child patient presented with symptoms/signs of dehydration,short stature, growth failure and rickets .
- The adult patient presented with symptoms/signs of dehydration,lethargy,walking disabilities, and osteomalacia.
Diagnostic results
The following result of Laboratory tests is confirmatory of Fanconi syndrome:
- Generalized aminoaciduria without elevation of plasma amino acids
- Low anion gap metabolic acidosis resulting from renal bicarbonate loss
- Phosphaturia without hyperphosphatemia
- Hypophosphatemia
- Glucosuria without hyperglycemia
- Low molecular weight proteinuria without any evidence for respective elevations of plasma proteins
Sequence of Diagnostic Studies
The laboratory tests usually are performed when:
- The child patient presented with symptoms/signs of dehydration,short stature, growth failure and rickets .
- The adult patient presented with symptoms/signs of dehydration,lethargy,walking disabilities, bone pains and osteomalacia.
Diagnostic Criteria
The diagnosis of Fanconi syndrome is basically made by labratory findings and the clinical presentation of the patients only lead physicians to investigate the lab tests. The definition of Fanconi syndrome has been quite confusingly in the literature as a definite diagnostic criteria has not been defined.
The following results of the laboratory tests together are confirmatory of Fanconi syndrome; however in cases of one or more absence of these findings, the disease might have been called Fanconi syndrome in some literature and it is interpreted then that they should not have.
- Generalized aminoaciduria without elevation of plasma amino acids
- Low anion gap metabolic acidosis resulting from renal bicarbonate loss
- Phosphaturia without hyperphosphatemia
- Hypophosphatemia
- Glucosuria without hyperglycemia
- Low molecular weight proteinuria without any evidence for respective elevations of plasma proteins
because of various pathophysiology of disease in patients, the definition of exact limits theses ingredients concentrations is not practical. and their deviation from the normal range is considered diagnostic.