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Table 1 Demographic data and laboratory findings of three cases

From: Three uncommon mutations of the SLC12A3 gene in gitelman syndrome: case reports and review of the literature

Parameters Reference values Case 1 Case 2 Case 3
At admission Third month At admission Third month At admission Third month
Weight (kg) 40 50 18 23.6 27 31
Height (cm) 137 149 112 118 128 135.9
pH 7.35–7.45 7.51* 7.46* 7.56* 7.44 7.49* 7.39
HCO3 (mmol/L) 22–26 32* 27.8 33* 27.8 33.6* 25.8
Na (mmol/L) 135–145 136.5 141.5 138 141.5 138.5 142.5
K (mmol/L) 3.5–5.5 2.7* 4.0 2.8* 3.8 2.94* 3.92
Cl (mmol/L) 97–107 98.7* 102.4 88.0* 101.7 86* 99.4
Calcium (mg/dL) 8.5–10.3 10.3 10.3 10.1 10.7 10.4 10.8
Mg (mg/dL) 1.7–2.3 1.33* 1.94 1.19* 1.89* 1.01* 2.1*
uCa/uCr (mg/mg)  < 0.21 0.05* 0.10 0.04* 0.16 0.06* 0.19
Renin (pg/mL) 2.5–45.1 62.08 51.02 66.01
Aldosterone (pg/mL) 20–230 254.03 263.04 248.02
SLC12A3 gene Mutation c.1928 C > T, p.Pro643Leu homozygous mutation c.248G > A, p.Arg83Gln homozygous mutation c.1919A > G, p.N640S homozygous mutation
  1. Na, Sodium; K, Potassium; Cl, Chloride; Mg, Magnesium; uCa, urine calcium; uCr, urine creatinine
  2. *Abnormal values