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.
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 presentation, diagnosis, and therapy is quite similar in antenatal Bartter syndrome 1 and 2. The types are distinguished according to the different gene loci.
Polyhydramnios of often so prominent that relief is sought by paracentesis.
Nephrocalcinosis in antenatal Bartter syndrome results from hypercalciuria and is accompanied by hypokalemia and metabolic alkalosis.
Hypercalciuria in antenatal Bartter syndrome causes nephrocalcinosis. Furthermore renal salt an water wastage dominate the clinical picture. Hypokalemia and metabolic alkalosis are the most prominent clinical symptoms.
|Antenatal Bartter syndrome type 1|
|Antenatal Bartter syndrome type 2|
|Classic Bartter syndrome|
|Hypercalciuric hypocalcemia 1|
|Hypercalciuric hypocalcemia 2|
|Infantile Bartter syndrome with deafness type 4|
|Transient antenatal Bartter syndrome|
None (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.
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OMIM.ORG articleOmim 241200