Knowra Fanconi syndrome Fanconi syndrome Fanconi syndrome is generalized dysfunction of the kidney’s proximal tubules, causing urinary loss of glucose, amino acids, phosphate, bicarbonate, and other filtered substances.
Proximal tubule : The nephron segment that reabsorbs most filtered water, electrolytes, glucose, amino acids, and bicarbonate. Its impaired reabsorption is the defining site of Fanconi syndrome.
Cystinosis : An inherited disorder in which cystine accumulates inside cells because lysosomal transport is defective. Cystinosis is a leading inherited cause of Fanconi syndrome in childhood.
Urinalysis : Laboratory examination of urine for cells, chemicals, proteins, and other abnormalities. Urine glucose despite normal blood glucose can signal proximal-tubule dysfunction.
Isolated renal glycosuria : Glucose excretion caused by reduced renal glucose reabsorption without generalized proximal-tubule dysfunction. Unlike Fanconi syndrome, it does not cause broad losses of phosphate, amino acids, and bicarbonate.
Metabolic acidosis : A reduction in blood pH caused by excess acid or loss of bicarbonate. Urinary bicarbonate loss can produce hyperchloremic metabolic acidosis in Fanconi syndrome.
Renal tubular acidosis : A group of disorders in which kidney tubules fail to maintain normal blood acid–base balance. Bicarbonate wasting in Fanconi syndrome can cause proximal, or type 2, renal tubular acidosis.
Dent disease : An X-linked kidney disorder marked by low-molecular-weight proteinuria, hypercalciuria, and progressive kidney damage. Dent disease can impair proximal-tubule function and produce a Fanconi-like pattern.
Fractional excretion of phosphate : A calculation estimating the fraction of filtered phosphate excreted in urine. It helps identify inappropriate renal phosphate loss in suspected Fanconi syndrome.
Renal phosphate wasting : Urinary phosphate loss caused by impaired renal reabsorption, with several possible underlying disorders. Fanconi syndrome is one cause, but phosphate wasting can occur without generalized tubular failure.
Growth failure : Abnormally slow growth in childhood, assessed against expected growth patterns. Chronic acidosis, phosphate depletion, and underlying disease can impair growth.
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