Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient

Figures & data

Table 1 Laboratory Tests of the Subject

Variable	Test Value	Reference Range
Blood tests
Potassium (mmol/L)	2.91*	3.5–5.5
Sodium (mmol/L)	143	137–147
Chloride (mmol/L)	101	99–110
Calcium (mmol/L)	2.72*	2.15–2.55
Magnesium (mmol/L)	0.49*	0.66–0.99
Phosphate (mmol/L)	1.04	0.85–1.51
PTH (pg/mL)	86.5*	15–65
TP1NP (ng/mL)	48.48	20.25–76.31
β-CTX (ng/mL)	0.26	0.131–0.9
25(OH)D (ng/mL)	29.24	>20
Arterial blood gas analysis
PH	7.52*	7.35–7.45
PO2 (mmHg)	61*	80–100
PCO2 (mmHg)	34*	35–45
Bicarbonate (mmol/L)	27.4*	18–23
Renin–angiotensin–aldosterone system
Angiotensin II (pg/mL)	56.94*	28.2–52.2
Plasma renin activity (ng/mL/h) (supine)	5.48*	0.05–0.79
Plasma aldosterone (ng/mL) (supine)	0.16	0.059–0.174
Plasma renin activity (ng/mL/h) (upright)	1.08	0.93–6.56
Plasma aldosterone (ng/mL) (upright)	0.17	0.065–0.296
24-h urine tests
Potassium (mmol/24 h)	89.4	25–125
Calcium (mmol/24 h)	3.31	2.5–7.5
Sodium (mmol/L)	188.65	130–260
Phosphate (mmol)	17.49	22–48

Note: *Abnormal value.

Abbreviations: PTH, parathyroid hormone; TP1NP, total N-terminal propeptide of type I procollagen; β-CTX, β-C-terminal telopeptides of type I collagen; 25(OH)D, 25-hydroxyvitamin D.

Figure 1 Genetic analysis of the SLC12A3 gene. (A) c.366A > G in Exon 2. (B) c.791C > G in Exon 6. (C) c.1027C > T in Exon 8 and (D) c.1456 G > A in Exon 12. The mutant nucleotides are marked in the red frames.