title: Family history may be misleading in the diagnosis of Dent's disease.
abstract: The rare Dent's disease manifests with medullary nephrocalcinosis, nephrolithiasis, hypercalciuria, low molecular weight proteinuria and other tubular dysfunctions, rickets or osteomalacia, and renal failure, in various combinations. It is a recessive X-linked condition. Clinicians consider family history a fundamental pointer to its diagnosis, but this is not invariably the case as clearly pointed out by the two reported cases.
authors.affiliation: Department of Medical and Surgical Sciences, Laboratory of Molecular Biology, University of Padova, Padova, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Anglani
authors.forename: P
authors.initials: P
authors.lastname: Bernich
authors.forename: E
authors.initials: E
authors.lastname: Tosetto
authors.forename: M
authors.initials: M
authors.lastname: Cara
authors.forename: A
authors.initials: A
authors.lastname: Lupo
authors.forename: F
authors.initials: F
authors.lastname: Nalesso
authors.forename: A
authors.initials: A
authors.lastname: D'Angelo
authors.forename: G
authors.initials: G
authors.lastname: Gambaro
mesh_terms: D000293:Adolescent; D000328:Adult; D018118:Chloride Channels / Q000235:genetics; D003951:Diagnostic Errors; D005192:Family Health; D006801:Humans; D053565:Hypercalciuria / Q000175:diagnosis* / Q000235:genetics*; D007669:Kidney Calculi / Q000175:diagnosis* / Q000235:genetics*; D007676:Kidney Failure, Chronic / Q000235:genetics; D008297:Male; D010375:Pedigree; D018167:Receptors, Calcitriol / Q000235:genetics
chemical_list: C097503:CLC-5 chloride channel; D018118:Chloride Channels; D018167:Receptors, Calcitriol