Table 2.

Clinical and biological characteristics of GS patients with one heterozygous mutation in the SLC12A3 gene and a large heterozygous rearrangements at the same gene

PatientAge at Diagnosis (years)GenderClinical PresentationPlasma Laboratory FindingsUrinary Laboratory Findings
Na (mmol/L) (reference range, 135 to 145)K (mmol/L) (reference range, 3.5 to 4.5)Cl (mmol/L) (reference range, 95 to 107)HCO3 (mmol/L) (reference range, 22 to 28)Mg (mmol/L) (reference range, 0.60 to 1.05)ReninAldosteroneK (mmol/L)Ca/creat (reference range, 0.04 to 0.37)
BT03826FFortuitous diagnosis1382.799270.40HighHigh90ND
BT21316MGrowth retardation1371.394240.50HighNormal53ND
BT2312MSevere dehydration after diarrhea and growth retardation1413.510027NDNDHigh185ND
BT24332MParesthesias and constipation1382.6102260.84NormalNormal35ND
BT24731FGrowth retardation cramps, tetany, paresthesias139298270.44HighNormal510.03
GT00453FFortuitous diagnosisND2.597310.40HighNormal680.15
GT03430FFortuitous diagnosisND2.898ND0.56NDND590.29
GT05928MFortuitous diagnosis1372.497300.55HighHigh590.28
GT12149MCramps, malaise with syncope1422.9100330.62HighHigh62ND
GT12213FCramps, polyuriaND2.8100ND0.70HighNormal230.01
GT13737MFortuitous diagnosis1393.194360.41NDND72ND
GT14225FAsthenia, chondrocalcinosis1392.3ND260.34HighNormal96ND
GT16537FFortuitous diagnosis1392.596290.50HighNormal320.01
GT18521MFatigue, cramps1432.6ND310.53HighNormalND0.27
GT18723FPalpitations, lypothymia, paresthesias1392.7102320.57HighNormal34ND
GT19612MGrowth retardation1362.797290.71NDHigh47ND
GT2435MGrowth retardationND2.9102260.67HighNormal1340.03
GT2785MFortuitous diagnosis1401.9100280.62NormalNormal265ND
GT28115MThoracic pain and palpitationsND2.8100230.68HighHigh1060.05
GT28532FChondrocalcinosis1392.594300.54NDND860.08
GT29147MRight hemiparesis1421.798350.58NormalNormal7ND
B02648MFamilial hypokalemia142399210.64HighNormal970.09
B0992MAbdominal pain1382.697270.60HighNormal520.3
B1046FAbdominal pain133291330.83HighNormal940.28
  • F, female; M, male; ND, not determined.