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Art of Medicine: Fanconi Syndrome

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. In Fanconi syndrome, there is glycosuria (despite normal plasma glucose levels), aminoaciduria, uricosuria, sodium and potassium wasting, hyperphosphaturia (despite presence of hypophosphatemia), and renal tubular acidosis. Renal tubular acidosis occurs secondary to a defect in resorption of bicarbonate at the proximal tubule,…

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Articles of Interest

Drug-induced renal Fanconi syndrome

A number of therapeutic drugs are toxic to the kidney proximal tubule (PT) and can cause the renal Fanconi syndrome (FS). The most frequently implicated drugs are cisplatin, ifosfamide, tenofovir, sodium valproate and aminoglycoside antibiotics, and the new oral iron chelator deferasirox has also recently been associated with FS

Fanconi Syndrome

Fanconi syndrome is a disease that is associated with dysfunction of the proximal tubule of the kidney. It is characterized by the wasting of phosphate, amino acids, glucose, and bicarbonate in varying degrees.1 Clinical manifestations stem from direct or indirect disturbances of the tubule system.2 Fanconi in children and adult populations frequently presents with bone diseases as sequelae of the syndrome.

Fanconi syndrome in the adulthood. The role of early diagnosis and treatment

The onset of the disease varies; if it is acquired (medications, etc), it can present itself at any age. If it is inherited (autosomal recessive pattern), the onset is usually evident in early development.

Fanconi Syndrome: Understanding a Rare Renal Disorder

Fanconi Syndrome can be classified into two main types: Primary and secondary. Primary Fanconi Syndrome is typically inherited and results from genetic mutations that affect the normal function of the renal tubules. Secondary Fanconi Syndrome can be acquired and may be caused by various factors, including certain medications, toxins, metabolic disorders, or kidney diseases.

Pediatric Fanconi Syndrome

Fanconi syndrome (FS) is a generalized dysfunction of the renal proximal tubules leading to excessive urinary wasting of amino acids, glucose, phosphate, uric acid, bicarbonate, and other solutes. The patients develop failure to thrive, polyuria, polydipsia, dehydration, and rickets in children, and osteoporosis and osteomalacia in adults. The patients also manifest renal salt wasting, hypokalemia, metabolic acidosis, hypercalciuria, and low-molecular-weight (LMW) proteinuria.

The Renal Fanconi Syndromes: The Proper Study of Mankind is Man

What are the renal Fanconi syndromes? The first description of a Fanconi syndrome was probably by Abderhalden in 1903; this was a patient with cystinosis. Abderhalden's name has been eclipsed by those of Lignac, de Toni, Debré, and Fanconi and instead of this quartet of eponyms, the syndrome is now generally associated with Fanconi alone. Although there is burgeoning interest in several acquired forms of Fanconi syndrome, such as that associated with HIV disease and its treatment, it is the genetic forms which have attracted most research. The major primary Mendelian forms are cystinosis (specifically nephropathic cystinosis), the oculocerebrorenal syndrome of Lowe, and Dent Disease types 1 and 2.

Resources

Guido Fanconi

Regarded as one of the founders of modern paediatrics, associated with at least 17 eponymous syndromes and diseases.

StatPearls

Fanconi syndrome, not to be confused with Fanconi anemia, is a defect of the proximal tubule that prevents the absorption of electrolytes and other substances that are normally absorbed by the proximal tubule. Fanconi syndrome can occur as an inherited or acquired condition. Adults with Fanconi syndrome typically have the acquired type, and children with the syndrome typically have the genetic type. Treatment outcomes largely dependent on the particular etiology and typically involve addressing the underlying cause when present, in addition to correcting deficiencies in volume status, nutrition, and/ or electrolytes.