. 2017 Jul 3;28(10):3118–3128. doi: 10.1681/ASN.2016080881

Table 2.

Clinical data of patients and family members

Subject	Urine				Thiazide Test; FE Cl,^a 2.3%–4.9%	DDAVP Test		Furosemide Test; ΔFE Cl,^a 8%–15%	Genetic Analysis CLDN10 Gene
Subject	24-h Ca Excretion, mM	Ca/Creatinine, mM/mM	24 h Mg Excretion, mM	Mg/Creatinine, mM/mM	Thiazide Test; FE Cl,^a 2.3%–4.9%	ΔUrine Osmolality, mosmol/kg	Maximum Urine Osmolality, >800 mosmol/kg	Furosemide Test; ΔFE Cl,^a 8%–15%	Nucleotide Change	Consequence
Patient 1
II:2	0.6–1.4
II:2	<	<	2.0	0.21	12.9	34/39	546/603	26.0	c.446C>G, c.465–1G>T	p.Pro149Arg, p.Glu157-Tyr192del
Family members
II:3		0.43	0.46			294	825		c.446C>G	p.Pro149Arg
II:4		0.58	0.32			136	1179		c.446C>G	p.Pro149Arg
III:1		0.21	0.23						c.446C>G	p.Pro149Arg
III:2		0.28	0.32			210	1048		c.465–1G>T	p.Glu157-T yr192del
Patient 2
II.2	<	<
II.2		0.03	0.26		5.6				c.446C>G, c.217G>A	p.Pro149Arg, p.Asp73Asn
Family members
I:1		0.15	0.23						c.446C>G	p.Pro149Arg
I:2		0.05	0.28						c.217G>A	p.Asp73Asn
II:1		0.21	0.27						None
II:3		0.06	0.61						c.446C>G	p.Pro149Arg

Individual subject numbers correspond with Figure 1. DDAVP was the synthetic arganine vasopressin analog. Ca, calcium; Mg, magnesium; FE, fractional excretion; Cl, chloride; <, below detection limit (urine calcium <0.1 mmol/L).

Maximum change of FE Cl as the main outcome measure in thiazide and furosemide responsiveness testing, with a ΔFE Cl <2.3% in thiazide responsiveness testing suggested to be abnormal and suggestive of GS.