Dent-2 disease: a mild variant of Lowe syndrome.

doi:10.1016/j.jpeds.2009.01.049

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Article

Dent-2 disease: a mild variant of Lowe syndrome.

The Journal of pediatrics - 1 Jul 2009

Bökenkamp Arend, Böckenhauer Detlef, Cheong Hae Il, Hoppe Bernd, Tasic Velibor, Unwin Robert, Ludwig Michael

Abstract excerpt

OBJECTIVE: To compare the renal and extra-renal phenotypes of patients classified as having Dent disease, Dent-2 disease, or Lowe syndrome. STUDY DESIGN: Chart review of data from 93 patients with identified voltage-gated chloride channel and chloride/proton antiporter 5 gene and oculo-cerebro-renal syndrome of Lowe gene mutations observed by the authors, complemented with published data. RESULTS: There was a...

Topics

Acidosis, Renal Tubular
Adolescent
Body Height
Cataract
Child
Child, Preschool
Chloride Channels
Glomerular Filtration Rate
Humans
Infant
Intellectual Disability
Mutation
Nephrocalcinosis
Oculocerebrorenal Syndrome
Phenotype
Phosphoric Monoester Hydrolases
Renal Aminoacidurias
Renal Insufficiency

Source

Open in PubMed

Identifiers

PMID: 19559295
DOI: 10.1016/j.jpeds.2009.01.049

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