Classification of salt-wasting tubulopathies

Gene	Protein	Common name	Phenotype	Inheritance	Segment	OMIM^¶ (Phenotype/Gene)
SLC12A1	NKCC2	Bartter syndrome type 1	Antenatal Bartter syndrome	AR	TAL	#601678/*600839
KCNJ1	KCNJ1/Kir1.1 (ROMK)	Bartter syndrome type 2	Antenatal Bartter syndrome	AR	TAL	#241200/*600359
CLCNKB	ClC-Kb	Bartter syndrome type 3	Classic Bartter syndrome and Gitelman-like syndrome	AR	TAL/DCT	#607364/*602023
BSND	Barttin	Bartter syndrome type 4a	Antenatal Bartter syndrome and sensorineural deafness	AR	TAL/DCT/ear	#602522/*606412
CLCNKA and CLCNKB	ClC-Ka and ClC-Kb	Bartter syndrome type 4b	Antenatal Bartter syndrome and sensorineural deafness	Digenic AR	TAL/DCT/ear	#613090/602024 and 602023
MAGED2	MAGE-D2	Bartter syndrome type 5	Antenatal Bartter syndrome (transient)	XR	TAL/DCT	#300971/*300470
SLC12A3	NCC	Gitelman syndrome	Gitelman syndrome	AR	DCT	#263800/*600968
KCNJ10	KCNJ10/Kir4.1	EAST syndrome	Gitelman-like syndrome and extrarenal^Δ	AR	DCT/CNS/ear	#612780/*602028
KCNJ16	KCNJ16/Kir5.1	Hypokalemic tubulopathy with deafness	Hypokalemia, mixed acid/base disturbance and deafness	AR	PCT/DCT/CNS/ear^◊	#619406/*605722
NR3C2	MR	Pseudohypoaldosteronism type 1A	PHA1A	AD	CNT/CD	#177735/*600983
SCNN1A	ENaC alpha subunit	Pseudohypoaldosteronism type 1	PHA1B	AR	CNT/CD	#264350/*600228
SCNN1B	ENaC beta subunit	Pseudohypoaldosteronism type 1	PHA1B	AR	CNT/CD	#264350/*600760
SCNN1G	ENaC gamma subunit	Pseudohypoaldosteronism type 1	PHA1B	AR	CNT/CD	#264350/*600761

NKCC2: apical sodium potassium chloride entry pathway; KCNJ1/Kir1.1 (ROMK): apical potassium recycling pathway; ClC: chloride channel; NCC: sodium chloride cotransporter; ENaC: epithelial sodium channel; AR: autosomal recessive; AD: autosomal dominant; XR: X-linked recessive; PCT: proximal convoluted tubule; TAL: thick ascending limb; DCT: distal convoluted tubule; PHA: pseudohypoaldosteronism; CNT/CD: connecting tubule/collecting duct; MR: mineralocorticoid receptor.
¶ Online Mendelian Inheritance in Man. In OMIM, phenotypes are designated with # and genes are designated with *.
Δ EAST syndrome includes extrarenal manifestations including epilepsy, ataxia, and sensorineural deafness.
◊ Channel expression is not limited to the DCT, but the phenotypic manifestations are.

Adapted with permission of American Society of Nephrology, from: Downie ML, Lopez Garcia SC, Kleta R, Bockenhauer D. Inherited tubulopathies of the kidney: Insights from genetics. Clin J Am Soc Nephrol 2021; 16:620; permission conveyed through Copyright Clearance Center, Inc. Copyright © 2021.

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Classification of salt-wasting tubulopathies