Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report

Table 1 Serum and urine biochemistry

Variable	Value	Standards
Serum parameters
Potassium	3.21 mmol/L	3.5-5.3
Sodium	139.5 mmol/L	137.0-147.0
Chlorine	103.7 mmol/L	99.0-110.0
Calcium	2.30 mmol/L	2.10-2.80
Phosphate	1.04 mmol/L	0.85-1.51
Magnesium	0.93 mmol/L	0.75-1.02
pH	7.471	7.350-7.450
Bicarbonate	27.0 mmol/L	22.0-27.0
Carbon dioxide	22.2 mmol/L	24.0-32.0
Albumin	39.9 g/L	40.0-55.0
Alkaline phosphatase	102 U/L	45-105
Creatinine	166.2μmol/L	58.0-110.0
Urea	9.89 mmol/L	3.2-7.1
25-hydroxy vitamin D3	32.92 ng/mL	20.0-50.0
PTH	33.0 pg/mL	15-65
Lying renin	23.329 ng/mL/h	0.100-6.560
Standing renin	18.331 ng/mL/h	0.150-2.330
Lying aldosterone	244.6 pg/mL	30.0-160.0
Standing aldosterone	183.0 pg/mL	70.0-300.0
Urine parameters
24 h urine volume	1600 mL	500-3000
24 h urine potassium	69.6 mmol/24 h	25.0-100.0
24 h urine sodium	129.9 mmol/24 h	130.0-260.0
24 h urine chlorine	138.6 mmol/24 h	110.0-250.0
24 h urine calcium	1.44 mmol/24 h	2.50-7.50
24 h urine creatinine	15.62 mmol/24 h	8.80-13.26
Urine potassium/creatinine	3.33 mmol/mmol	1.53-8.27
Urine sodium/creatinine	15.91 mmol/mmol	3.25-22.29
Urine chlorine/creatinine	15.64 mmol/mmol	3.95-22.30
Urine calcium/creatinine	0.11 mmol/mmol	0.15-0.52
PTH, parathyroid hormone

PTH: Parathyroid hormone.