Bartter syndrome other diagnostic studies
|
Bartter syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Bartter syndrome other diagnostic studies On the Web |
|
American Roentgen Ray Society Images of Bartter syndrome other diagnostic studies |
|
Risk calculators and risk factors for 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
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.