Bartter syndrome future or investigational therapies: Difference between revisions
Jump to navigation
Jump to search
(Created page with "__NOTOC__ {{Bartter syndrome}} Please help WikiDoc by adding content here. It's easy! Click here to learn about editing. ==References== {{Refli...") |
TayyabaAli (talk | contribs) No edit summary |
||
| Line 1: | Line 1: | ||
__NOTOC__ | __NOTOC__ | ||
{{Bartter syndrome}} | {{Bartter syndrome}} | ||
Main article: [[Bartter syndrome]] | |||
{{CMG}}{{AE}}{{TAM}} | |||
==Overview== | |||
Experimental treatments that are being examined depend on the revelation that a few mutations causing [[Bartter syndrome]] create carriers with normal function. In any case, the [[mutations]] bring about the sequestration of these carriers inside intracellular compartments with the goal that they neglect to effectively embed into the suitable [[cell membrane]]. When these proteins can be effectively embedded into the [[cell membrane]], they can become functional and correct the defect. The delivery and insertion of these fully or partially functional proteins into the [[cell membrane]] and partially rescue [[sodium chloride]] reabsorption can be improved by the utilization of the molecular chaperones, such as 4-phenylbutyrate. | |||
==Future or Investigational therapies== | |||
*Experimental treatments that are being examined depend on the revelation that a few mutations causing [[Bartter syndrome]] create carriers with normal function. In any case, the [[mutations]] bring about the sequestration of these carriers inside intracellular compartments with the goal that they neglect to effectively embed into the suitable [[cell membrane]]. When these proteins can be effectively embedded into the [[cell membrane]], they can become functional and correct the defect. | |||
*The delivery and insertion of these fully or partially functional proteins into the [[cell membrane]] and partially rescue [[sodium chloride]] reabsorption can be improved by the utilization of the molecular chaperones, such as 4-phenylbutyrate.<ref name="pmid25810436">{{cite journal| author=Andrini O, Keck M, Briones R, Lourdel S, Vargas-Poussou R, Teulon J| title=ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3. | journal=Am J Physiol Renal Physiol | year= 2015 | volume= 308 | issue= 12 | pages= F1324-34 | pmid=25810436 | doi=10.1152/ajprenal.00004.2015 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25810436 }} </ref><ref name="pmid15102966">{{cite journal| author=de Jong JC, Willems PH, Goossens M, Vandewalle A, van den Heuvel LP, Knoers NV | display-authors=etal| title=Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman's syndrome in a mouse cortical collecting duct cell line. | journal=Nephrol Dial Transplant | year= 2004 | volume= 19 | issue= 5 | pages= 1069-76 | pmid=15102966 | doi=10.1093/ndt/gfg474 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15102966 }} </ref><ref name="pmid12911542">{{cite journal| author=Peters M, Ermert S, Jeck N, Derst C, Pechmann U, Weber S | display-authors=etal| title=Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. | journal=Kidney Int | year= 2003 | volume= 64 | issue= 3 | pages= 923-32 | pmid=12911542 | doi=10.1046/j.1523-1755.2003.00153.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12911542 }} </ref> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 21:21, 5 August 2020
|
Bartter syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Bartter syndrome future or investigational therapies On the Web |
|
American Roentgen Ray Society Images of Bartter syndrome future or investigational therapies |
|
Bartter syndrome future or investigational therapies in the news |
|
Blogs on Bartter syndrome future or investigational therapies |
|
Risk calculators and risk factors for Bartter syndrome future or investigational therapies |
Main article: Bartter syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Tayyaba Ali, M.D.[2]
Overview
Experimental treatments that are being examined depend on the revelation that a few mutations causing Bartter syndrome create carriers with normal function. In any case, the mutations bring about the sequestration of these carriers inside intracellular compartments with the goal that they neglect to effectively embed into the suitable cell membrane. When these proteins can be effectively embedded into the cell membrane, they can become functional and correct the defect. The delivery and insertion of these fully or partially functional proteins into the cell membrane and partially rescue sodium chloride reabsorption can be improved by the utilization of the molecular chaperones, such as 4-phenylbutyrate.
Future or Investigational therapies
- Experimental treatments that are being examined depend on the revelation that a few mutations causing Bartter syndrome create carriers with normal function. In any case, the mutations bring about the sequestration of these carriers inside intracellular compartments with the goal that they neglect to effectively embed into the suitable cell membrane. When these proteins can be effectively embedded into the cell membrane, they can become functional and correct the defect.
- The delivery and insertion of these fully or partially functional proteins into the cell membrane and partially rescue sodium chloride reabsorption can be improved by the utilization of the molecular chaperones, such as 4-phenylbutyrate.[1][2][3]
References
- ↑ Andrini O, Keck M, Briones R, Lourdel S, Vargas-Poussou R, Teulon J (2015). "ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3". Am J Physiol Renal Physiol. 308 (12): F1324–34. doi:10.1152/ajprenal.00004.2015. PMID 25810436.
- ↑ de Jong JC, Willems PH, Goossens M, Vandewalle A, van den Heuvel LP, Knoers NV; et al. (2004). "Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman's syndrome in a mouse cortical collecting duct cell line". Nephrol Dial Transplant. 19 (5): 1069–76. doi:10.1093/ndt/gfg474. PMID 15102966.
- ↑ Peters M, Ermert S, Jeck N, Derst C, Pechmann U, Weber S; et al. (2003). "Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome". Kidney Int. 64 (3): 923–32. doi:10.1046/j.1523-1755.2003.00153.x. PMID 12911542.