Table 1.

Genetics of Bartter syndrome and typical clinical findings

	Gene	OMIM	Inheritance	Protein	Clinical findings
Type I	SLC12A1	601678	AR	NKCC2	Prematurity, polyhydramnios, nephrocalcinosis, hypokalemic alkalosis, hyposthenuria
Type II	KCNJ1	241200	AR	ROMK1	Prematurity, polyhydramnios, nephrocalcinosis, hypokalemic alkalosis, hyposthenuria, transient hyperkalemia
Type III	CLCNKB	607364	AR	CLC-Kb	Hypokalemia, hypochloremic alkalosis
Type IVa	BSND	602522	AR	Barttin	Prematurity, polyhydramnios, sensorial deafness, hypokalemia, hypochloremic alkalosis
Type IVb	CLCNKA CLCNKB	613090	AR	CLC-Ka CLC-Kb	Prematurity, polyhydramnios, sensorial deafness, hypokalemia, hypochloremic alkalosis
Transient BS	MAGE-D2	300971	XLR	MAGE-D2	Transient salt wasting, polyhydramnios
AD hypocalcemic hypercalciuria	CASR	601198	AD	CaSR	Hypocalcemic hypercalciuria

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; XLR, X-linked recessive.