Fanconi Syndrome is characterized by a resorption defect in the proximal tubule leading to an increased excretion of phosphate, potassium, and bicarbonate from the urine.
Patients with Fanconi syndrome have hypophosphatemia due to an increase in loss of phosphate in the defective proximal tubule. This can lead to rickets in children and in adults.
A condition causes by decreased mineralization of bones. It can be due to low vitamin D, calcium, or phosphate. This term has been used to describe the condition in children whereas osteomalacia is the term for adults.
A condition caused by the decreased mineralization of bones due to low levels of calcium or phosphate. This term is typically used to describe the condition in adults whereas rickets is the term commonly used for children.
Due to the dysfunction of the proximal convoluted tubule, sodium reabsorption is diminished. This sodium loss contributes to an environment of hypovolemia and secondary hyperaldosteronism, which are coupled with the increased distal delivery of sodium to encourage sodium reabsorption and potassium secretion in the collecting tubule, resulting in hypokalemia.
In Fanconi syndrome, excess loss of bicarbonate causes patients to develop metabolic acidosis.
In Fanconi syndrome, patients develop metabolic acidosis due to excess bicarbonate loss, and this is classified specifically as type 2 renal tubular acidosis.
Managing Fanconi syndrome starts with treating the underlying disorder, in other words, stopping the excess electrolyte excretion. There are many disorders that can cause Fanconi syndrome, including hereditary vs non-hereditary etiologies. Some of these disorders can be reversed.
After addressing the underlying disorder, lost bicarbonate can be replaced to treat the metabolic acidosis.
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