FANCONI SYNDROME
Fanconi syndrome is a rare condition involving proximal tubule dysfunction, leading to multiple biochemical abnormalities. This article dives into 7 key laboratory derangements in Fanconi syndrome that every healthcare professional should know.
1. Hypophosphatemia
hallmark is , hypophosphatemia occurs due to excessive phosphate loss in the urine. It can lead to muscle weakness and osteomalacia.
2. Metabolic Acidosis (Type 2 RTA)
Proximal renal tubular acidosis results in the inability to reabsorb bicarbonate, causing systemic metabolic acidosis.
3. Hypokalemia
Potassium wasting in urine is a frequent finding, leading to muscle cramps and arrhythmias.
4. Aminoaciduria
The failure to reabsorb amino acids manifests as aminoaciduria, a critical diagnostic marker.
5. Glycosuria Without Hyperglycemia
It causes glucose loss in urine despite normal blood glucose levels.
6. Hypercalciuria
Calcium wasting in urine contributes to nephrocalcinosis and kidney damage.
7. Low Serum Uric Acid
Increased uric acid excretion lowers serum levels, often overlooked but significant.
Conclusion
Recognizing these 7 laboratory derangements in Fanconi syndrome is crucial for timely diagnosis and management. Stay alert for these biochemical patterns in at-risk patients.
