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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.

Symptoms

Polyhydramnios
Polyhydramnios of often so prominent that relief is sought by paracentesis.
Nephrocalcinosis
Nephrocalcinosis in antenatal Bartter syndrome results from hypercalciuria and is accompanied by hypokalemia and metabolic alkalosis.
Hypercalciuria
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.

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

References:

1.

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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2.

Simon DB et al. (1996) Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.

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3.

Lopes CM et al. (2002) Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies.

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4.

Seyberth HW et al. (1987) Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders.

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5.

Seyberth HW et al. (1985) Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome.

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6.

Proesmans W et al. () Bartter syndrome in two siblings--antenatal and neonatal observations.

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7.

Deschenes G et al. (1993) [Antenatal form of Bartter's syndrome]

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8.

Konrad M et al. (1999) Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.

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9.

Kleta R et al. (2000) New treatment options for Bartter's syndrome.

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10.

Jeck N et al. (2001) Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome.

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11.

Peters M et al. (2002) Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

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12.

Finer G et al. (2003) Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome.

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13.

Köckerling A et al. (1996) Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle.

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14.

Fellman V et al. (1996) Severe hyperprostaglandin E syndrome with hyperthyroidism--studies of pathogenetic mechanisms.

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15.

OMIM.ORG article

Omim 241200 external link
Update: Aug. 14, 2020
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