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.
| Data | November 2012 | October 2013 | References |
| Serum electrolytes | | | | s-Na (mEq/L) | 139 | 139 | 138–146 | s-K (mEq/L) | 3.2 | 2.8 | 3.6–5.1 | s-Cl (mEq/L) | 97 | 97 | 99–108 | s-Ca (mg/dL) | 10.5 | 10.0 | 8.7–10.3 | s-P (mg/dL) | NT | 3.6 | 2.9–4.9 | s-Mg (mg/dL) | 1.4–1.8 | 1.8 | 1.8–2.4 | Renal function | | | | s-BUN | 17.4 | 13.3 | 7.8–18.9 | s-creatinine | 0.43 | 0.39 | 0.64–1.11 | FENa (%) | 1.2 | 0.7 | <1.0 | FEK (%) | 12.3 | 9.8 | 9.6 (4.6–20.4)** | FEMg (%) | NT | 468 |
1.4 0.6* | FECa (%) | NT | 0.023 | 0.25 0.2* | TTKG | NT | 9.62 | 6.0 (4.1–10.5)** | Urinary biochemistry | | | | u-creatinine (mg/dL) | 33.64 | 33.27 | — | u-Na (mEq/L) | 130 | 85 | — | u-K (mEq/L) | 30.8 | 23.4 | — | u-Cl (mEq/L) | 128 | 92 | — | u-Ca (mg/dL) | NT | 0.2 | — | u-Ca/creatinine | NT | 0.006 | >0.2 | u-Mg (g/L) | NT | 7.2 | 0.1-0.2 | Renin activity (ng/mL/hr) | >15.4 | 47.1 | 0.2–2.7 | Aldosterone (ng/dL) | 14.6 | 32.0 | 3.6–24 | Blood gas | | | | pH | 7.443 | 7.459 | 7.35–7.45 | pCO2 (mmHg) | 45.9 | 45.3 | 35–45 | pO2 (mmHg) | 46.1 | 50.5 | 80–100 | HCO3 act (mmol/L) | 30.7 | 31.7 | 20–26 | BE(vt) (mmol/L) | 5.7 | 7.2 | −3–+3 |
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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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