Case Reports in Pediatrics / 2014 / Article / Tab 1

Case Report

Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene

Table 1

Laboratory data obtained on two occasions one year apart.

DataNovember 2012October 2013References

Serum electrolytes
 s-Na (mEq/L)139139138–146
 s-K (mEq/L)3.22.83.6–5.1
 s-Cl (mEq/L)979799–108
 s-Ca (mg/dL)10.510.08.7–10.3
 s-P (mg/dL)NT3.62.9–4.9
 s-Mg (mg/dL)1.4–1.81.81.8–2.4
Renal function
 s-BUN17.413.37.8–18.9
 s-creatinine0.430.390.64–1.11
 FENa (%)1.20.7<1.0
 FEK (%)12.39.89.6 (4.6–20.4)**
 FEMg (%)NT468 1.4 0.6*
 FECa (%)NT0.0230.25 0.2*
 TTKGNT9.626.0 (4.1–10.5)**
Urinary biochemistry
 u-creatinine (mg/dL)33.6433.27
 u-Na (mEq/L)13085
 u-K (mEq/L)30.823.4
 u-Cl (mEq/L)12892
 u-Ca (mg/dL)NT0.2
 u-Ca/creatinineNT0.006>0.2
 u-Mg (g/L)NT7.20.1-0.2
 Renin activity (ng/mL/hr)>15.447.10.2–2.7
 Aldosterone (ng/dL)14.632.03.6–24
Blood gas
 pH7.4437.4597.35–7.45
 pCO2 (mmHg)45.945.335–45
 pO2 (mmHg)46.150.580–100
 HCO3 act (mmol/L)30.731.720–26
 BE(vt) (mmol/L)5.77.2−3–+3

FE: functional or fractional excretion; TTKG: transtubular potassium concentration gradient; s: serum; u: urine; NT: not tested; venous blood.
Reference values are from *Rodríguez-Soriano et al. (Pediatr Nephrol 1990) [7], **Futrakul et al. (Am J Kidney Dis. 1999) [8].

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