Gitelman syndrome: A case report

Table 1 Laboratory examinations

	Value or range	Normal range
Urinary pH	8.5	5.0-8.4
Urinary specific gravity	1.01	1.021-1.03
Urinary protein	Negative	Negative
BUN, mmol/L	4.62	3.1-8
CR, mmol/L	76.3	57-97
pH	7.47-7.54	7.35-7.45
HCO3-, mmol/L	24.1-27.7	22-26
Serum magnesium, mmol/L	0.4	0.7-1.0
Serum potassium, mmol/L	1.66-2.83	3.5-5.3
Serum sodium, mmol/L	132.6-139.3	137-147
Serum calcium, mmol/L	2.21-2.36	2.11-2.52
Serum phosphorus, mmol/L	0.69	0.85-1.51
Urinary potassium, mmol/d	102.43-120.08	25-100
Urinary calcium, mmol/d	1.51-2.46	130-260
Glycosylated hemoglobin, %	5.5	4-6
Parathyroid hormone, pg/mL	8.67	14.5-87.1
Cor, nmol/L (8 a.m.)	287.17	6-10 a.m.: 133-537
Cor, nmol/L (4 p.m.)	151.73	4-8 p.m.: 68.2-327
ACTH, pmol/L (8 a.m.)	12.94	8 a.m., 4 p.m.: 2-14
ACTH, pmol/L (4 p.m.)	3.5	8 a.m., 4 p.m.: 2-14

BUN: Blood urea nitrogen; CR: Complete response; Cor: Cortisone; ACTH: Adreno-cortico-tropic-hormone.

Table 2 Results of postural stimulation test

Position	Aldosterone/(pg/mL)	Renin/(ng/mL/h)	ARR
Clinostatism	330.64 (40.0-310.0)	6.4 (0.15-2.33)	5.36 (0-30)
Orthostatism	756.82 (10.0-160.0)	16.45 (1.31-3.95)	4.6 (0-30)

ARR: Aldosterone renin ratio.

Table 3 Genetic testing

Gene	Zone	Reference sequence	Location	cDNA level	Protein level	Status	Classification of variation
SLC12A3	16q13	NM_000339.2	Exon1	c.248G>A	p.Arg83G1n	Heterozygosis	Suspicious pathologically
SLC12A3	16q13	NM_000339.2	Exon21	c.2532G>A	p.Trp844*	Heterozygosis	Pathological