Antenatal Bartter syndrome type 2

Antenatal Bartter syndrome is characterized by polyuria that starts before birth, which signifies by polyhydramnios. The molecular genetic background are autosomal recessive inactivating mutations of the KCNJ1 gene.

Epidemiology

Although exact figures still unknown and difficult to obtain, the the incidence is thought between 1 in 50,000 to 1 in 100,000.

Clinical Findings

Clinical presentation, diagnosis, and therapy is quite similar in antenatal Bartter syndrome 1 and 2. The types are distinguished according to the different gene loci.

Systematic

Bartter syndrome
	Antenatal Bartter syndrome type 1
	Antenatal Bartter syndrome type 2
		KCNJ1
	Classic Bartter syndrome
	Hypercalciuric hypocalcemia 1
	Hypercalciuric hypocalcemia 2
	Infantile Bartter syndrome with deafness type 4
	Transient antenatal Bartter syndrome