Bartter syndrome other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
===Genetic analysis=== | |||
*Genetic analysis is required to make an accurate diagnosis.<ref name="pmid21503667">{{cite journal| author=Seyberth HW, Schlingmann KP| title=Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. | journal=Pediatr Nephrol | year= 2011 | volume= 26 | issue= 10 | pages= 1789-802 | pmid=21503667 | doi=10.1007/s00467-011-1871-4 | pmc=3163795 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21503667 }} </ref> | *Genetic analysis is required to make an accurate diagnosis.<ref name="pmid21503667">{{cite journal| author=Seyberth HW, Schlingmann KP| title=Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. | journal=Pediatr Nephrol | year= 2011 | volume= 26 | issue= 10 | pages= 1789-802 | pmid=21503667 | doi=10.1007/s00467-011-1871-4 | pmc=3163795 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21503667 }} </ref> | ||
===Biopsy=== | ===Biopsy=== | ||
In [[Bartter syndrome]], a [[biopsy]] of the [[kidney]] typically shows too much growth of kidney cells called the [[juxtaglomerular apparatus]]. However, this is not found in all patients, especially in young children. | In [[Bartter syndrome]], a [[biopsy]] of the [[kidney]] typically shows too much growth of kidney cells called the [[juxtaglomerular apparatus]]. However, this is not found in all patients, especially in young children.<ref name="pmid13969763">{{cite journal| author=BARTTER FC, PRONOVE P, GILL JR, MACCARDLE RC| title=Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. | journal=Am J Med | year= 1962 | volume= 33 | issue= | pages= 811-28 | pmid=13969763 | doi=10.1016/0002-9343(62)90214-0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13969763 }} </ref> | ||
==References== | ==References== | ||
Revision as of 20:02, 4 August 2020
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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]
Biopsy
In Bartter syndrome, a biopsy of the kidney typically shows too much growth of kidney cells called the juxtaglomerular apparatus. However, this is not found in all patients, especially in young children.[2]
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.
- ↑ 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.