title: Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion.
abstract: Fanconi syndrome is a complex of renal tubular dysfunctions defined by glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis. It is often associated with hypokalemia, hypophosphatemia, and rickets or osteomalacia. Although it is usually found in the setting of other well-established non-renal diseases, Fanconi syndrome may present without identifiable etiology or association. Very infrequently a patient with idiopathic Fanconi syndrome will progress to chronic renal failure. This case report details the course of such a patient over the 20 years since his diagnosis and discusses the syndrome's genetic background, clinical features, putative pathophysiology, and therapeutic options, including transplantation.
authors.affiliation: Yale University School of Medicine, New Haven, Connecticut.
authors.forename: W S
authors.initials: WS
authors.lastname: Long
authors.forename: M R
authors.initials: MR
authors.lastname: Seashore
authors.forename: N J
authors.initials: NJ
authors.lastname: Siegel
authors.forename: M J
authors.initials: MJ
authors.lastname: Bia
mesh_terms: D000328:Adult; D001639:Bicarbonates / Q000627:therapeutic use; D015519:Bone Density; D002675:Child, Preschool; D005198:Fanconi Syndrome / Q000150:complications* / Q000235:genetics / Q000628:therapy; D005919:Glomerular Filtration Rate; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology*; D008297:Male; D010710:Phosphates / Q000627:therapeutic use; D014807:Vitamin D / Q000627:therapeutic use
chemical_list: D001639:Bicarbonates; D010710:Phosphates; D014807:Vitamin D