Andersen-Tawil syndrome laboratory findings: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Andersen-Tawil syndrome}} | {{Andersen-Tawil syndrome}} | ||
{{CMG}}; {{AE}} {{ | {{CMG}}; {{AE}} {{VKG}} | ||
== Overview == | == Overview == | ||
Laboratory findings consistent with the [[diagnosis]] of [[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]) include [[serum]] [[potassium]] levels. Some patients with [[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]) may have elevated/reduced concentration of serum [[potassium]] levels, which is usually suggestive of [[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]). | |||
Laboratory findings consistent with the diagnosis of Andersen-Tawil syndrome (ATS) include serum potassium levels. | |||
== Laboratory Findings == | == Laboratory Findings == | ||
* There are no diagnostic laboratory findings associated with [[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]). | |||
* An elevated/reduced concentration of [[serum]] [[potassium]] levels is consistent in [[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]).<ref name="pmid17395133">{{cite journal| author=Sansone V, Tawil R| title=Management and treatment of Andersen-Tawil syndrome (ATS). | journal=Neurotherapeutics | year= 2007 | volume= 4 | issue= 2 | pages= 233-7 | pmid=17395133 | doi=10.1016/j.nurt.2007.01.005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17395133 }}</ref> | |||
*Patients with [[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]) may experience weakness when the [[potassium]] levels in the blood drops to low which suggests the name [[hypokalemic periodic paralysis]].<ref name="NguyenPieper2013">{{cite journal|last1=Nguyen|first1=Hoai-Linh|last2=Pieper|first2=Gerard H.|last3=Wilders|first3=Ronald|title=Andersen–Tawil syndrome: Clinical and molecular aspects|journal=International Journal of Cardiology|volume=170|issue=1|year=2013|pages=1–16|issn=01675273|doi=10.1016/j.ijcard.2013.10.010}}</ref><ref name="pmid24383070">{{cite journal| author=Nguyen HL, Pieper GH, Wilders R| title=Andersen-Tawil syndrome: clinical and molecular aspects. | journal=Int J Cardiol | year= 2013 | volume= 170 | issue= 1 | pages= 1-16 | pmid=24383070 | doi=10.1016/j.ijcard.2013.10.010 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24383070 }}</ref> | |||
*Weakness may also occurs in patients with [[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]) when the [[Potassium-aggravated myotonia|potassium]] levels are even normal but the weakness may be triggered by [[exercise]], [[cold]], or even sometimes [[menstruation]]. | |||
*[[Thyroid hormone|Thyroid hormones]] such as [[thyroid-stimulating hormone]] ([[Thyroid-stimulating hormone|TSH]]), [[Thyroxine|T4]], and [[Triiodothyronine|T3]] levels should be checked due to thyrotoxic [[periodic paralysis]] can also present with [[muscle weakness]] and [[paralysis]].<ref name="pmid20074522">{{cite journal| author=Ryan DP, da Silva MR, Soong TW, Fontaine B, Donaldson MR, Kung AW | display-authors=etal| title=Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. | journal=Cell | year= 2010 | volume= 140 | issue= 1 | pages= 88-98 | pmid=20074522 | doi=10.1016/j.cell.2009.12.024 | pmc=2885139 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20074522 }}</ref><ref name="pmid31404457">{{cite journal| author=Munir I, Mehmood T, Islam K, Soni L, McFarlane SI| title=Thyrotoxic Periodic Paralysis with Sensory Deficits in Young African American Male: A Case Report and Literature Review. | journal=Am J Med Case Rep | year= 2019 | volume= 7 | issue= 7 | pages= 138-142 | pmid=31404457 | doi=10.12691/ajmcr-7-7-5 | pmc=6688769 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31404457 }}</ref><ref name="pmid31967006">{{cite journal| author=Rajpal A, Sood A| title=HYPOKALEMIC PERIODIC PARALYSIS IN A PATIENT WITH EUTHYROID GRAVES DISEASE AND CELIAC DISEASE. | journal=AACE Clin Case Rep | year= 2019 | volume= 5 | issue= 1 | pages= e73-e76 | pmid=31967006 | doi=10.4158/ACCR-2018-0206 | pmc=6876974 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31967006 }}</ref> | |||
==References== | ==References== | ||
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[[Category:Electrophysiology]] | [[Category:Electrophysiology]] | ||
[[Category:Disease]] | [[Category:Rare Disease]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 15:18, 17 February 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Laboratory findings consistent with the diagnosis of Andersen-Tawil syndrome (ATS) include serum potassium levels. Some patients with Andersen-Tawil syndrome (ATS) may have elevated/reduced concentration of serum potassium levels, which is usually suggestive of Andersen-Tawil syndrome (ATS).
Laboratory Findings
- There are no diagnostic laboratory findings associated with Andersen-Tawil syndrome (ATS).
- An elevated/reduced concentration of serum potassium levels is consistent in Andersen-Tawil syndrome (ATS).[1]
- Patients with Andersen-Tawil syndrome (ATS) may experience weakness when the potassium levels in the blood drops to low which suggests the name hypokalemic periodic paralysis.[2][3]
- Weakness may also occurs in patients with Andersen-Tawil syndrome (ATS) when the potassium levels are even normal but the weakness may be triggered by exercise, cold, or even sometimes menstruation.
- Thyroid hormones such as thyroid-stimulating hormone (TSH), T4, and T3 levels should be checked due to thyrotoxic periodic paralysis can also present with muscle weakness and paralysis.[4][5][6]
References
- ↑ Sansone V, Tawil R (2007). "Management and treatment of Andersen-Tawil syndrome (ATS)". Neurotherapeutics. 4 (2): 233–7. doi:10.1016/j.nurt.2007.01.005. PMID 17395133.
- ↑ Nguyen, Hoai-Linh; Pieper, Gerard H.; Wilders, Ronald (2013). "Andersen–Tawil syndrome: Clinical and molecular aspects". International Journal of Cardiology. 170 (1): 1–16. doi:10.1016/j.ijcard.2013.10.010. ISSN 0167-5273.
- ↑ Nguyen HL, Pieper GH, Wilders R (2013). "Andersen-Tawil syndrome: clinical and molecular aspects". Int J Cardiol. 170 (1): 1–16. doi:10.1016/j.ijcard.2013.10.010. PMID 24383070.
- ↑ Ryan DP, da Silva MR, Soong TW, Fontaine B, Donaldson MR, Kung AW; et al. (2010). "Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis". Cell. 140 (1): 88–98. doi:10.1016/j.cell.2009.12.024. PMC 2885139. PMID 20074522.
- ↑ Munir I, Mehmood T, Islam K, Soni L, McFarlane SI (2019). "Thyrotoxic Periodic Paralysis with Sensory Deficits in Young African American Male: A Case Report and Literature Review". Am J Med Case Rep. 7 (7): 138–142. doi:10.12691/ajmcr-7-7-5. PMC 6688769 Check
|pmc=value (help). PMID 31404457. - ↑ Rajpal A, Sood A (2019). "HYPOKALEMIC PERIODIC PARALYSIS IN A PATIENT WITH EUTHYROID GRAVES DISEASE AND CELIAC DISEASE". AACE Clin Case Rep. 5 (1): e73–e76. doi:10.4158/ACCR-2018-0206. PMC 6876974 Check
|pmc=value (help). PMID 31967006.