Bartter syndrome other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Tayyaba Ali, M.D.[2]

Overview

Genetic analysis is required to make an accurate diagnosis. Amniotic fluid chloride concentration ranged from 114 to 123 mEq/L has been reported in four newborns Bartter syndrome patients. In Bartter syndrome, a biopsy of the kidney typically shows redundant growth of kidney cells called the juxtaglomerular apparatus. However, this is not found in all patients, especially in young children

Other Diagnostic Studies

Genetic analysis

Genetic analysis is required to make an accurate diagnosis.^[1]

Amniotic fluid chloride measurement

A higher amniotic fluid chloride concentration is consistent with one of the neonatal forms of Bartter syndrome or congenital chloride diarrhea. Amniotic fluid chloride concentration ranged from 114 to 123 mEq/L has been reported in four newborns Bartter syndrome patients.^[2]^[3]^[4]

Biopsy

In Bartter syndrome, a biopsy of the kidney typically shows redundant growth of kidney cells called the juxtaglomerular apparatus. However, this is not found in all patients, especially in young children.^[5]

References

↑ Seyberth HW, Schlingmann KP (2011). “Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects”. Pediatr Nephrol. 26 (10): 1789–802. doi:10.1007/s00467-011-1871-4. PMC 3163795. PMID 21503667.
↑ Proesmans W (2006). “Threading through the mizmaze of Bartter syndrome”. Pediatr Nephrol. 21 (7): 896–902. doi:10.1007/s00467-006-0113-7. PMID 16773399.
↑ Tourne G, Collet F, Varlet MN, Billiemaz K, Prieur F, Lavocat MP; et al. (2003). “[Prenatal Bartter’s syndrome. Report of two cases]”. J Gynecol Obstet Biol Reprod (Paris). 32 (8 Pt 1): 751–4. PMID 15067902.
↑ Proesmans W, Massa G, Vandenberghe K, Van Assche A (1987). “Prenatal diagnosis of Bartter syndrome”. Lancet. 1 (8529): 394. doi:10.1016/s0140-6736(87)91781-8. PMID 2880209.
↑ BARTTER FC, PRONOVE P, GILL JR, MACCARDLE RC (1962). “Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome”. Am J Med. 33: 811–28. doi:10.1016/0002-9343(62)90214-0. PMID 13969763.

Template:WikiDoc Sources

[pmid21503667-1] Seyberth HW, Schlingmann KP (2011). “Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects”. Pediatr Nephrol. 26 (10): 1789–802. doi:10.1007/s00467-011-1871-4. PMC 3163795. PMID 21503667.

[pmid16773399-2] Proesmans W (2006). “Threading through the mizmaze of Bartter syndrome”. Pediatr Nephrol. 21 (7): 896–902. doi:10.1007/s00467-006-0113-7. PMID 16773399.

[pmid15067902-3] Tourne G, Collet F, Varlet MN, Billiemaz K, Prieur F, Lavocat MP; et al. (2003). “[Prenatal Bartter’s syndrome. Report of two cases]”. J Gynecol Obstet Biol Reprod (Paris). 32 (8 Pt 1): 751–4. PMID 15067902.

[pmid2880209-4] Proesmans W, Massa G, Vandenberghe K, Van Assche A (1987). “Prenatal diagnosis of Bartter syndrome”. Lancet. 1 (8529): 394. doi:10.1016/s0140-6736(87)91781-8. PMID 2880209.

[pmid13969763-5] BARTTER FC, PRONOVE P, GILL JR, MACCARDLE RC (1962). “Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome”. Am J Med. 33: 811–28. doi:10.1016/0002-9343(62)90214-0. PMID 13969763.

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