Clinical feature: 

Definition: 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 picture: 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.  » » » 

Literature: 

Deschenes G et al. (1993) [Antenatal form of Bartter's syndrome]
Fellman V et al. (1996) Severe hyperprostaglandin E syndrome with hyperthyroidism--studies of pathogenetic mechanisms.
Finer G et al. (2003) Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome.
et al. (1997) Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes.
Jeck N et al. (2001) Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome.
Kleta R et al. (2000) New treatment options for Bartter's syndrome.
Köckerling A et al. (1996) Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle.
Konrad M et al. (1999) Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.
Lopes CM et al. (2002) Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies.
Peters M et al. (2002) Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.
Proesmans W et al. () Bartter syndrome in two siblings--antenatal and neonatal observations.
Seyberth HW et al. (1987) Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders.
Seyberth HW et al. (1985) Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome.
Simon DB et al. (1996) Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.