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Review
. 2019 Feb;66(1):159-167.
doi: 10.1016/j.pcl.2018.09.002.

Fanconi Syndrome

John W Foreman  1
Affiliations
Review

Fanconi Syndrome

John W Foreman. Pediatr Clin North Am. 2019 Feb.

Abstract

Fanconi syndrome, also known as the DeToni, Debré, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosuria, phosphaturia, generalized aminoaciduria, and type II renal tubular acidosis. Often there is hypokalemia, sodium wasting, and dehydration. In children, it typically is caused by inborn errors of metabolism, principally cystinosis. In adults, it is mainly caused by medications, exogenous toxins, and heavy metals. Treatment consists of treating the underlying cause and replacing the lost electrolytes and volume.

Keywords: Cystinosis; Dent disease; Fanconi syndrome; Lowe syndrome; Proximal tubule.

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