Table 6.

Clinical phenotype, genotype, and HCT test result in two representative patients

PatientGenderAge (yr)PK (mM)PMg (mg/dl)UCa/UCr (mg/mg)SymptomsΔFECl (%)DiagnosisGene Mutation
ClinicalaHCTb
33F232.301.800.12Tetany, nocturia0.65BS (type III)GSSLC12A3
B17M242.290.960.04Tetany, polyuria3.45GSBS, possibly type IIICLCNKB
  • a According to the biochemical profile.

  • b According to the HCT test.