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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:

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Huopio H et al. (2003) A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.

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Thornton PS et al. (2003) Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.

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3.

Maeda Y et al. (2007) Indian Hedgehog produced by postnatal chondrocytes is essential for maintaining a growth plate and trabecular bone.

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4.

Blanco P et al. (2001) Induction of dendritic cell differentiation by IFN-alpha in systemic lupus erythematosus.

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Stein CM et al. (2002) Increased prevalence of renal disease in systemic lupus erythematosus families with affected male relatives.

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Leadbetter EA et al. (2002) Chromatin-IgG complexes activate B cells by dual engagement of IgM and Toll-like receptors.

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Graham RR et al. (2002) Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus.

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Johanneson B et al. (2002) A major susceptibility locus for systemic lupus erythemathosus maps to chromosome 1q31.

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Scofield RH et al. (2003) Thrombocytopenia identifies a severe familial phenotype of systemic lupus erythematosus and reveals genetic linkages at 1q22 and 11p13.

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Prokunina L et al. (2002) A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.

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Sun Y et al. (2002) Costimulatory molecule-targeted antibody therapy of a spontaneous autoimmune disease.

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Molokhia M et al. (2003) Relation of risk of systemic lupus erythematosus to west African admixture in a Caribbean population.

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Baechler EC et al. (2003) Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus.

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14.

Nakamura K et al. (2003) Genetic dissection of anxiety in autoimmune disease.

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15.

None (1964) ANTINUCLEAR ANTIBODIES IN FAMILIES OF PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS.

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Update: Aug. 14, 2020
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