
- Published: April 12, 2019
- By: Tiffany Caza, MD
- Tags: Fanconi syndrome, glucosuria, Light chain proximal tubulopathy, Monoclonal gammopathy of renal significance, renal tubular acidosis
This painting shows the transition between a proximal tubule and the thick descending limb of the loop of Henle. The proximal tubule has numerous functions, including transport of sodium chloride, bicarbonate, glucose, amino acids, organic cations, organic anions, and phosphate. Disruption of proximal tubule function manifests clinically as Fanconi syndrome. Development of polyuria, osteomalacia, muscle weakness, and growth failure can result if it is unrecognized and untreated. Fanconi syndrome can be diagnosed by clinical chemistry tests, including urine sodium, potassium, calcium, phosphate, glucose, amino acids, and uric acid levels, as well as urine pH. In Fanconi syndrome, there is glycosuria...