title: Whole saliva in X-linked hypohidrotic ectodermal dysplasia.
abstract: BACKGROUND
  X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. Identification of female carriers of X-linked HED can be difficult because of varying degrees of clinical symptoms due to the X-chromosome inactivation. This is the first study about whole saliva flow and composition in males affected by HED and female carriers all confirmed by molecular genetic analysis. HYPOTHESIS AND AIM: As salivary glands derive from ectoderm, we hypothesized that whole saliva flow and composition are altered in males affected by HED and female carriers.
  
  
  METHODS
  Saliva flow and composition were examined in a group of affected males and in a group of female carriers, all confirmed by molecular genetic analysis, and compared with healthy male and female controls.
  
  
  RESULTS
  Affected males and female carriers had reduced whole saliva flow and saliva with high concentrations of most inorganic salivary constituents as well as total protein. However, affected males and female carriers seemed to have reduced amylase activity and concentration relative to their total protein concentration.
  
  
  CONCLUSIONS
  Saliva flow and composition may be used as part of a comprehensive clinical examination to identify potential female carriers of HED.
authors.affiliation: Department of Paediatric Dentistry and Clinical Genetics, School of Dentistry, University of Copenhagen, Copenhagen, Denmark. mol@odont.ku.dk
authors.forename: Michala Oron
authors.initials: MO
authors.lastname: Lexner
authors.forename: Allan
authors.initials: A
authors.lastname: Bardow
authors.forename: Jens Michael
authors.initials: JM
authors.lastname: Hertz
authors.forename: Lis
authors.initials: L
authors.lastname: Almer
authors.forename: Birgitte
authors.initials: B
authors.lastname: Nauntofte
authors.forename: Sven
authors.initials: S
authors.lastname: Kreiborg
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000681:Amylases / Q000032:analysis; D015415:Biomarkers / Q000032:analysis; D002118:Calcium / Q000032:analysis; D016022:Case-Control Studies; D002712:Chlorides / Q000032:analysis; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics / Q000503:physiopathology*; D053331:Ectodysplasins / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010710:Phosphates / Q000032:analysis; D011188:Potassium / Q000032:analysis; D012463:Saliva / Q000737:chemistry / Q000378:metabolism*; D012471:Salivary Proteins and Peptides / Q000032:analysis; D012636:Secretory Rate / Q000502:physiology; D012964:Sodium / Q000032:analysis
chemical_list: D015415:Biomarkers; D002712:Chlorides; C506018:EDA protein, human; D053331:Ectodysplasins; D010710:Phosphates; D012471:Salivary Proteins and Peptides; D012964:Sodium; D000681:Amylases; D011188:Potassium; D002118:Calcium