Proximal renal tubular acidosis and Fanconi syndrome
Introduction
Proximal renal tubular acidosis can occur in isolation or associated with defects in the proximal tubule. Fanconi syndrome is the term of a patient with proximal renal tubular acidosis, glucosuria, aminoaciduria, hypouricemi, hypophosphatemia. Causes
In adults who debuts with the condition, monoclonal gammopathy the most common cause proximal tubular damage. The syndrome can also be seen as a side effect of some medications. In children, one must think of familial and random genetic defects that cause. Table of common causes of renal tubular acidosis and Fanconi syndrome:
| Causes | Examples |
|---|
| Primary gene defects | Idiopathic |
| Familial |
| Acquired | Monoclonal gammopathy |
| Medications |
| Heavy metals |
Clinical presentation
Renal tubular acidosis should be suspected in patients with unexplained metabolic acidosis with normal anion gap (hyperchloraemic). By Proximal RTA will be expected bicarbonate 12-20 mmol / L and urinary pH will be <5.5, in contrast to distal RTA where urine pH is> 5.5 and bicarbonate can often be <10 mmol / l. During concomitant renal glucosuria, hypophosphatemia and / or hypouricemi the patient proximal RTA as part of Fanconi syndrome. Read more about renal tubular acidosis
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