. 2015 Dec 24;31(1):47–54. doi: 10.3346/jkms.2016.31.1.47

Table 2. Clinical and biochemical profile of enrolled patients at the time of presentation.

Patients	Age (yr)	Sex	Onset age (yr)	Clinical manifestations	Mutated genes	BP	[K⁺]	[HCO₃^-]	Arterial pH	[Mg²⁺]	Urine Ca/Cr	FEMg
1^*	19	M	9	Weakness in the hands and feet	SLC12A3^†	123/70	3.4	31	7.40	0.70	0.03	NA
2^*	20	M	17	L/E weakness	SLC12A3^†	130/78	3.0	27	7.42	0.71	0.07	1.3
3	31	F	NA	Weight loss	SLC12A3^†	80/60	3.2	23	7.55	0.63	0.03	9.0
4	20	M	12	L/E weakness	SLC12A3^†	104/60	3.0	31	7.43	0.58	0.04	1.7
5	21	M	20	Weight loss, numbness of hands	SLC12A3^†	100/60	2.2	39	7.47	0.63	0.07	3.0
6	28	F	24	L/E paresthesia and cramping	SLC12A3^†	100/70	2.5	38	7.47	0.58	0.32	2.7
7	16	F	12	L/E weakness and paralysis	SLC12A3^†	110/80	2.8	32	7.42	0.58	0.02	2.1
8	20	M	20	L/E paresthesia and weakness	SLC12A3^‡	110/70	3.1	33	7.46	0.58	NA	NA
9	20	M	15	L/E weakness and paralysis	SLC12A3^‡	110/80	2.7	27	7.43	0.58	0.04	1.8
10^*	56	F	56	Dizziness	SLC12A3^‡	120/80	2.8	33	7.50	0.46	0.49	2.5
11^*	51	M	44	Loss of consciousness	SLC12A3^‡	123/76	3.3	33	7.42	0.54	0.36	15.2
12	67	F	47	Cardiac arrest	SLC12A3^‡	114/64	2.4	29	7.47	0.58	0.15	3.1
13	24	M	24	L/E paresthesia	SLC12A3^‡	104/70	3.0	28	NA	0.54	0.13	2.4
14	28	F	28	L/E weakness	SLC12A3^‡	100/70	2.8	33	7.37	0.50	0.05	3.5
15	29	M	26	L/E paresthesia	SLC12A3^‡	100/58	3.1	25	NA	0.71	0.10	1.5
16	19	M	18	L/E weakness and paralysis	SLC12A3^‡	128/67	2.8	37	7.43	0.50	0.09	4.2
17	27	M	27	L/E paralysis	SLC12A3^‡	110/80	2.5	28	7.40	0.54	0.12	3.7
18	55	F	55	No symptoms	SLC12A3^‡	111/70	2.7	30	7.50	0.46	0.12	1.8
19^*	21	M	21	Syncope, L/E weakness	SLC12A3^‡	95/50	2.6	30	7.45	0.50	0.16	4.3
20^*	19	M	19	L/E weakness	SLC12A3^‡	107/69	2.8	32	7.39	0.63	0.11	1.6
21	20	M	20	Dizziness	SLC12A3^‡	120/80	3.0	27	NA	0.67	0.06	0.9
22	24	F	24	Involuntary motion of both hands	SLC12A3^‡	110/70	1.9	28	7.44	0.46	0.03	0.4
23	28	M	23	L/E weakness	SLC12A3^‡	120/80	3.1	28	NA	0.54	0.06	0.6
24	35	M	35	L/E paralysis	SLC12A3^§	116/59	3.1	34	7.45	0.54	0.19	2.0
25	48	M	40	L/E paresthesia	SLC12A3^§	130/80	3.4	32	7.41	0.63	0.12	2.0
26	25	M	25	L/E numbness	SLC12A3^§	113/66	3.1	33	NA	0.63	0.03	1.4
27	19	M	19	L/E paralysis	SLC12A3^§	119/62	2.9	35	7.43	0.83	0.05	16.2
28	49	F	44	Dizziness, vomiting	SLC12A3^§	120/70	2.9	30	7.40	0.67	0.09	4.3
29	23	M	23	NA	SLC12A3^§	110/80	2.9	37	NA	0.67	0.16	NA
30	19	M	17	L/E weakness, polyuria	SLC12A3^§ + CLCNKB^§	110/60	3.0	33	7.60	0.58	0.07	1.9
31	25	M	3	Polyuria, polydipsia, failure to thrive, salt craving	SLC12A3^§ + CLCNKB^†	95/60	3.1	30	NA	0.63	0.26	1.9
32	17	F	16	No symptoms	CLCNKB^†	112/75	2.8	35	7.42	0.71	0.44	1.8
33	26	M	26	Nephrolithiasis	CLCNKB^†	107/59	2.9	36	7.45	0.92	0.53	0.4
34	27	F	27	Dizziness	CLCNKB^§	120/62	3.1	32	7.45	0.79	0.25	1.2

^*Patients 1 and 2, 10, and 11, 19, and 20 were siblings; ^†homozygous; ^‡compound heterozygous; ^§single heterozygous mutation. BP, blood pressure (systolic/diastolic, in mmHg); [K⁺], serum potassium concentration (mM/L); sHCO₃^-, serum bicarbonate concentration (mM/L); [Mg²⁺], serum magnesium concentration (mM/L); Ca/Cr, calcium-to-creatinine ratio (mM/mM); FEMg, fractional excretion of Mg (%); NA, Not available; L/E, low-extremity.