title: Three cases of Gordon syndrome with dominant KLHL3 mutations.
abstract: BACKGROUND
  Gordon syndrome (GS) is a rare form of monogenic hypertension characterized by low renin hypertension, hyperkalemia, hyperchloremic metabolic acidosis, and normal glomerular filtration rate. To date, four genes causing GS have been identified as: WNK1, WNK4, CUL3, and KLHL3.
  
  
  METHODS
  We report three cases of GS in two families. All patients presented with typical clinical features of GS and had a known dominant KLHL3 mutation. Oral thiazide treatment with low salt diet resulted in normalization of blood pressure and serum electrolytes in all three cases.
  
  
  CONCLUSIONS
  GS should be considered in patients with low renin hypertension and hyperkalemia. Although it is a rare disease, the correct diagnosis of GS is clinically important, as it can easily be treated with a low sodium diet or thiazides. In addition, family studies can identify individuals with undiagnosed GS as all mutations causing this disease, except for some recessive KLHL3 mutations, are dominant mutations.
authors.forename: Ji Soo
authors.initials: JS
authors.lastname: Park
authors.forename: Eujin
authors.initials: E
authors.lastname: Park
authors.forename: Hye Sun
authors.initials: HS
authors.lastname: Hyun
authors.forename: Yo Han
authors.initials: YH
authors.lastname: Ahn
authors.forename: Hee Gyung
authors.initials: HG
authors.lastname: Kang
authors.forename: Il-Soo
authors.initials: IS
authors.lastname: Ha
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D001176:Arthrogryposis / Q000235:genetics* / Q000473:pathology*; D015415:Biomarkers / Q000378:metabolism*; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology*; D003025:Clubfoot / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007223:Infant; D008840:Microfilament Proteins; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D015415:Biomarkers; D002352:Carrier Proteins; C489837:KLHL3 protein, human; D008840:Microfilament Proteins