How is Fanconi syndrome treated?

Fanconi syndrome is caused by many causes, and its main symptom is proximal renal tubular acidosis. Fanconi syndrome is an absorption dysfunction disease that has a great impact on the body. There are generally two ways to treat Fanconi syndrome.

1. Treatment of the cause

Secondary Fanconi syndrome should be treated with the underlying disorder. Wilson's disease or heavy metal poisoning can be treated by promoting the excretion of poisons, while genetic metabolic diseases can be treated by reducing the deposition of metabolic toxic substances and alleviating damage to the renal tubules through dietary management. Patients with Fanconi syndrome secondary to cystinosis should be given a low-cystine diet and symptomatic treatment. For bone lesions, vitamin D2 50,000 to 500,000 U, vitamin D3 2000 to 1000 U, or hydroxycholecalciferol 200 to 5000 U can be used. Dehydration and acidosis should be treated accordingly. In the early stage, 10-15 ml of potassium sodium citrate solution can be taken orally, 3-5 times/day. Penicillamine can be used to eliminate cystine, but it cannot reduce intracellular cystine deposition; Dithiothreitol (DDT) has poor efficacy, while cysteine ​​has a better effect.

2. Symptomatic treatment

(1) Correction of acidosis: Supplement alkaline agents according to the loss of bicarbonate, 2-10 mmol/(kg?d). Bicarbonate, citrate, lactate, etc. can be used, 4-5 times/d, divided into doses, and the standard is the return of blood bicarbonate levels to normal. Sodium supplementation can aggravate hypokalemia, so it should be carefully monitored. For those who already have hypokalemia, potassium supplementation of 2 to 4 mmol/(kg?d) should be given simultaneously. If the patient cannot tolerate the alkali dosage, hydrochlorothiazide (hydrochlorothiazide) 2-3 mg/(kg?d) can be added. It can reduce the extracellular fluid and promote the reabsorption of bicarbonate, but caution should be exercised to prevent a decrease in glomerular filtration rate.

(2) Correction of hypovolemia: Fanconi syndrome often leads to dehydration due to polyuria. In addition to treating the cause, salt-containing fluids (including sodium, potassium, calcium, etc.) should be supplemented. This can be taken orally at regular intervals and supplemented temporarily when necessary.

(3) Correct hypophosphatemia: Take 1 to 3 g of neutral phosphate per day, divided into 5 doses. If diarrhea or abdominal discomfort occurs, the dosage may be reduced. Note that phosphorus supplementation can aggravate hypocalcemia and bone disease, so vitamin D 5000U/d or 1,25(OH)2D3 0.25-0.5μg/d should be used in combination. Start with a small amount and gradually increase to a sufficient amount. To prevent renal calcification, urinary calcium excretion should be monitored, with the standard being no more than 0.6 g/d.

(4) Hypouricemia, aminoaciduria and proteinuria generally do not require treatment.

(5) Renal failure should be treated with dialysis or kidney transplantation.