Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review

Table 1 Laboratory findings of the proband on admission

Characteristic	Detection value	Reference range	Characteristics	Detection value	Reference range
Age (yr)	29	-	Hormones
Height (cm)	163.0	-	Thyroid stimulating hormone (μU/mL)	< 0.005	0.27-4.2
Weight (kg)	49.0	-	Free triiodothyronine (pmol/L)	13.46	3.1-6.8
Body mass index (kg/m2)	18.4	-	Free tetraiodothyronine (pmol/L)	37.15	12-22
Blood pressure (mmHg)	112/78	-	Anti-thyroid peroxidase antibody (U/mL)	18.2	< 34
Biochemistry			Antithyroglobulin antibody (U/mL)	179.6	< 115
Total cholesterol (mmol/L)	4.23	< 5.20	Thyrotrophin receptor antibody (U/L)	2.8	0-1.75
Triglyceride (mmol/L)	1.32	< 1.70	Aldosterone (pg/mL), upright position	451.0	40-310
High-density lipoprotein (mmol/L)	0.89	1.04-1.55	Renin (pg/mL), upright position	454.0	4-38
Low-density lipoprotein (mmol/L)	2.12	< 3.40	Aldosterone (pg/mL), supine position	287	10-160
eGFR (mL/min/1.73 m2)	120.3	-	Renin (pg/mL), supine position	206	4-24
Serum uric acid (μmol/L)	391.0	155-357	Parathyroid hormone (pg/mL)	34.1	15-65
Alanine transaminase (U/L)	13	7-40	Adrenocorticotrophic hormone (pg/mL)
Aspartate aminotransferase (U/L)	17	13-35	8 am	15.76	1.6-13.9
Total bilirubin (μmol/L)	28.4	< 21.0	4 pm	12.35	-
Direct bilirubin (μmol/L)	8.6	< 8.0	0 am	5.02	-
Sodium (mmol/L)	137.0	137-147	Serum cortisol (μg/dL)
Potassium (mmol/L)	3.09	3.5-5.3	8 am	12.03	6.02-18.4
Chloride (mmol/L)	94.5	99-110	4 pm	8.14	2.3-11.9
Calcium (mmol/L)	2.33	2.11-2.52	0 am	4.29	-
Magnesium (mmol/L)	0.60	0.65-1.25	Arterial blood gas analysis
24-h urinary electrolytes			pH	7.49	7.35-7.45
Sodium (mmol/24 h)	127.60	137-257	pCO2 (mmHg)	40	35-45
Potassium (mmol/24 h)	67.98	36-90	pO2 (mmHg)	135	80-100
Chloride (mmol/24 h)	166.10	170-250	HCO3- (mmol/L)	30.5	22-27
Calcium (mmol/24 h)	0.24	2.5-7.5	Base excess (mmol/L)	6.6	-2.3-2.3
Phosphate (mmol/24 h)	13.39	16.15-42	Potassium (mmol/L)	2.4	3.5-5.5
Urine volume (L/24 h)	1.10	-