Bartter syndrome other diagnostic studies: Difference between revisions

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===Genetic analysis===
===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>
===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.<ref name="pmid16773399">{{cite journal| author=Proesmans W| title=Threading through the mizmaze of Bartter syndrome. | journal=Pediatr Nephrol | year= 2006 | volume= 21 | issue= 7 | pages= 896-902 | pmid=16773399 | doi=10.1007/s00467-006-0113-7 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16773399  }} </ref><ref name="pmid15067902">{{cite journal| author=Tourne G, Collet F, Varlet MN, Billiemaz K, Prieur F, Lavocat MP | display-authors=etal| title=[Prenatal Bartter's syndrome. Report of two cases]. | journal=J Gynecol Obstet Biol Reprod (Paris) | year= 2003 | volume= 32 | issue= 8 Pt 1 | pages= 751-4 | pmid=15067902 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15067902  }} </ref><ref name="pmid2880209">{{cite journal| author=Proesmans W, Massa G, Vandenberghe K, Van Assche A| title=Prenatal diagnosis of Bartter syndrome. | journal=Lancet | year= 1987 | volume= 1 | issue= 8529 | pages= 394 | pmid=2880209 | doi=10.1016/s0140-6736(87)91781-8 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2880209  }} </ref>
===Biopsy===
===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.<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>
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.<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>

Revision as of 14:46, 5 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]

Amniotic fluid chloride measurement

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

  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.
  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.
  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.
  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.
  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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