Fanconi syndrome describes generalized proximal renal tubule dysfunction causing impaired reabsorption of many urinary solutes.
Clinical features include poor growth, fatigue, dehydration, polyuria, muscle weakness, and bone pain. Features on a basic blood panel include hypokalemia, hypophosphatemia and metabolic acidosis. Rickets may occur in children while osteomalacia may occur in adults 1.
Fanconi syndrome causes defects in glucose, amino acid, phosphate, urate, and bicarbonate reabsorption. It is classified as a type 2 renal tubular acidosis.
Fanconi syndrome may occur in either inherited or acquired forms. Inherited forms mainly present in childhood and may be due to genetic diseases including galactosemia, Wilson disease, cystinosis, Lowe syndrome, and hereditary fructose intolerance 1,2. Secondary or acquired forms have been described due to drugs (e.g. aminoglycosides, antiretrovirals), toxin exposure (e.g. heavy metals), or plasma cell dyscrasias (e.g. multiple myeloma, immunoglobulin nephropathy) 1.
History and etymology
It is named after Swiss physician Guido Fanconi (1892-1979), who also described the unrelated Fanconi anemia 3.
- 1. Earle KE, Seneviratne T, Shaker J, Shoback D. Fanconi's syndrome in HIV+ adults: report of three cases and literature review. (2004) Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 19 (5): 714-21. doi:10.1359/jbmr.2004.19.5.714 - Pubmed
- 2. Morris RC. An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis; its resemblance to the renal acidification defect associated with the Fanconi syndrome of children with cystinosis. (1968) The Journal of clinical investigation. 47 (7): 1648-63. doi:10.1172/JCI105856 - Pubmed
- 3. Maher OM, Moonat HR. Fanconi Anemia and Fanconi Syndrome: Time to Correct the Misnomers. (2016) Journal of pediatric hematology/oncology. 38 (7): 585. doi:10.1097/MPH.0000000000000673 - Pubmed