Table 1.

Blood and urinary parameters of family members

Individual	MCT12 Mutation	SGLT2 Mutation	Age (Years)	Plasma Parameters														24-Hour Urinary Glucose Excretion
				Na	K	Cl	Ca	P	Mg	pH	HCO3	Glucose	Creatinine	CKD-EPI eGFR	Cystatin C	Cystatin eGFR	Hb A1c
II-1	yes	yes	70.3	138	4.1	108	2.27	1.12	0.89	7.35	24.3	5.2	67	80	1.07	64	5.6	6.71
II-3	yes	yes	65.3	138	3.8	106	2.22	1.08	0.82	7.39	28.7	4.9	52	96	0.90	82	6.3	11.77
II-7	yes	yes	61.8	139	4.5	102	2.26	0.83	0.83	7.29	25.2	4.5	66	86	0.70	103	5.6	5.54
III-4	yes	yes	40.2	137	3.9	100	2.24	0.85	0.72	7.40	23.5	4.8	66	100	0.53	130	5.7	6.53
III-7	yes	yes	27.1	140	4.8	106	2.25	0.84	0.85	7.34	26.7	5.1	91	99	0.80	119	5.4	1.10
II-5	yes	no	55.3	141	3.9	104	2.27	1.01	0.78	7.43	23.0	4.4	70	98	0.86	90	5.4	0.14
II-9	yes	no	69.4	137	4.3	99	2.38	1.00	0.76	7.36	28.0	9.7	96	69	0.87	90	7.8	32.48
III-1	yes	no	44.8	138	4.2	103	2.31	0.85	0.88	7.39	29.1	4.7	69	92	0.96	81	5.7	0.09
III-2	yes	no	43.3	141	4.1	107	2.29	0.74	0.79	7.37	26.7	4.9	74	107	0.73	117	5.6	0.36
III-5	yes	no	22.4	140	3.6	101	2.24	1.05	0.77	7.37	24.8	3.7	61	106	0.74	118	5.4	0.12
III-8	yes	no	35.6	139	4.4	106	2.15	1.16	0.83	7.39	22.9	4.7	85	76	0.85	99	4.7	0.55
II-2	no	no	68.6	137	4.0	107	2.23	1.06	0.70	7.41	21.7	6.4	73	90	0.90	86	6.9	0.10
II-4	no	no	74.4	142	4.1	102	2.27	1.04	0.80	7.39	26.5	5.4	80	83	0.93	81	6.1	0.27
II-8	no	no	64.7	139	4.4	102	2.22	0.78	0.87	7.36	25.6	4.9	74	92	0.73	107	5.4	0.33
II-10	no	no	70.4	138	4.2	103	2.26	0.96	0.78	7.40	24.6	5.0	63	86	0.74	97	5.7	0.19
II-11	no	no	53.7	136	4.1	101	2.29	0.70	0.77	7.41	23.9	5.4	94	79	0.79	108	5.4	0.39
III-6	no	no	30.5	138	3.9	108	2.20	0.82	0.76	7.37	24.9	5.2	77	89	ND	ND	5.1	0.36
III-10	no	no	38.7	139	4.2	106	2.25	0.96	0.76	7.39	25.3	4.6	74	88	0.69	114	5.1	0.41
III-11	no	no	39.5	143	4.0	105	2.35	0.98	0.89	7.38	27.1	4.7	75	109	0.65	126	5.3	0.64
III-12	no	no	22.6	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	0.18
III-13	no	no	25.8	140	4.0	102	2.29	1.15	0.88	7.40	25.1	5.1	113	77	0.80	120	5.2	0.18
MCT12 mutation yes, median (IQR)			44.8 (37.9–63.6)	139 (138–140)	4.1 (3.9–4.4)	104 (101.5–106)	2.26 (2.24–2.28)	1 (0.85–1.07)	0.82 (0.78–0.84)	7.37 (7.36–7.39)	25.2 (23.9–27.35)	4.8a (4.6–4.9)	69 (66–79.5)	96 (83–100)	0.85 (0.74–0.89)	99 (86–117)	5.6a (5.4–5.7)	0.83a (0.19–6.3)
MCT12 mutation no, median (IQR)			46.6 (32.5–67.6)	139 (138–140)	4.1 (4–4.2)	103 (102–106)	2.26 (2.23–2.29)	0.96 (0.82–1.04)	0.78 (0.76–0.87)	7.39 (7.38–7.4)	25.1 (24.6–25.6)	5.11a (4.9–5.4)	75 (74–80)	88 (83–90)	0.77 (0.72–0.83)	108 (94–116)	5.4a (5.2–5.7)	0.27a (0.16–0.38)
Mann–Whitney U test, P value			1	0.97	0.82	0.91	0.94	0.57	0.62	0.18	0.62	0.03	0.14	0.41	0.41	0.66	0.46	0.19
SGLT2 mutation yes, median (IQR)			61.8 (40.2–65.3)	138 (138–139)	4.1 (3.9–4.5)	106 (102–106)	2.25 (2.24–2.26)	0.85 (0.84–1.08)	0.83 (0.82–0.85)	7.35 (7.34–7.39)	25.2 (24.3–26.7)	4.8a (4.8–5.1)	66 (66–67)	96 (86–99)	0.80 (0.70–0.90)	105 (82–110)	5.6a (5.6–6.5)	6.5a (5.5–6.7)
SGLT2 mutation no, median (IQR)			44 (34.3–65.6)	139 (138–140.5)	4.1 (4–4.2)	103 (102–106)	2.27 (2.24–2.29)	0.98 (0.84–1.05)	0.78 (0.77–0.85)	7.39 (7.37–7.4)	25.1 (24.25–26.6)	4.9a (4.7–5.2)	74 (71.5–82.5)	89 (81–95)	0.80 (0.70–0.90)	100 (86–109)	5.4a (5.2–5.7)	0.27a (0.16–0.38)
Mann–Whitney U test, P value			0.60	0.43	0.79	0.69	0.36	0.93	0.41	0.13	0.79	1.00	0.09	0.55	1	0.89	0.16	0.001

Numbering is according to the pedigree in Figure 1. Raw data, median, and interquartile range (IQR) of all parameters are presented. Between-group differences were analyzed by the Mann–Whitney U test. Plasma Na, K, Cl, P, Mg, HCO₃, and glucose are in mmol/l, and plasma creatinine in μmol/l. Glucose excretion per 24 hours in the urine is in mmol. CKD-EPI, Chronic Kidney Disease Epidemiology Collaboration; HbA1_c, glycated hemoglobin; ND, not determined.

^aSubject II-9 suffers from diabetes mellitus type II. He was therefore excluded from the statistical analyses concerning the comparison between patients with and without the SGLT2 mutation for the following parameters: plasma glucose, HbA1_c, and glucose excretion per 24 hours.