Table 1.

Overview of Gitelman(-like) sydromes

Gene	Protein	Disease	OMIM	Inh.	Onset	Mg2+	K+	HCO3−	FECa2+	RAAS	Other symptoms	Ref
SLC12A3	NCC	Classic Gitelman syndrome	263800	R	Childhood Adolescence	↓	↓	↑	↓	↑	Chondrocalcinosis	[1,2,13,46]
MT-TI	Mitochondrial tRNA-Ile	Mitochondrial Gitelman syndrome		M	Adult	↓	↓	=/↑	↓	=/↑		[17▪▪,35]
MT-TF	Mitochondrial tRNA-Phe	Mitochondrial Gitelman syndrome		M	Childhood Adult	↓	↓	=/↑	↓	=/↑	CKD	[17▪▪]
CLCNKB	ClCKb	Bartter syndrome type III	607364	R	Neonatal Childhood	↓/=	↓	↑	↓/=/↑	↑	CKD	[10,45,46]
KCNJ10	Kir4.1	SESAME / EAST syndrome	612780	R	Neonatal	↓	↓	↑	↓	↑	Epilepsy, ataxia, sensorineural deafness	[50,51]
KCNJ16	Kir5.1		619406	R		↓/=	↓	↓/↑	↓	↑	Deafness	[16▪,53]
FXYD2	γ-subunit of the Na+-K+-ATPase		154020	D	Childhood Adult	↓	</=	=/↑	↓		Chondrocalcinosis	[56,57]
ATP1A1	α-subunit of the Na+-K+-ATPase		618314	D	Neonatal	↓	↓/=	=	↓/=/↑	=	Intellectual disability	[61]
HNF1B	HNF1β	ADTKD-HNF1B	137920	D	Neonatal Childhood	↓/=	=	=	↓	=/↑	CAKUT MODY5	[66,68]