title: Renal failure in adult onset hypophosphatemic osteomalacia with Fanconi syndrome: a family study and review of the literature.
abstract: Follow-up of a previously reported family with dominantly inherited adult onset hypophosphatemic osteomalacia with Fanconi syndrome and diabetes mellitus has shown that both the proposita and her affected sister have developed renal glomerular failure. We describe the evolution of renal failure in this family and discuss the possible mechanisms involved. The development of renal tubular acidosis in this condition further impairs renal function and we suggest that correction of systemic acidosis might improve renal function and prevent further decline in these patients.
authors.affiliation: Department of Medicine, John Radcliffe Hospital, Oxford, England.
authors.forename: N A
authors.initials: NA
authors.lastname: Harrison
authors.forename: J M
authors.initials: JM
authors.lastname: Bateman
authors.forename: J G
authors.initials: JG
authors.lastname: Ledingham
authors.forename: R
authors.initials: R
authors.lastname: Smith
mesh_terms: D000141:Acidosis, Renal Tubular / Q000188:drug therapy; D000293:Adolescent; D000328:Adult; D001639:Bicarbonates / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000235:genetics; D005198:Fanconi Syndrome / Q000097:blood / Q000150:complications / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000235:genetics*; D008297:Male; D010018:Osteomalacia / Q000097:blood / Q000209:etiology / Q000235:genetics*; D010375:Pedigree; D010710:Phosphates / Q000097:blood*; D012964:Sodium / Q000627:therapeutic use; D017693:Sodium Bicarbonate
chemical_list: D001639:Bicarbonates; D010710:Phosphates; D017693:Sodium Bicarbonate; D012964:Sodium