Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis

Jordi Díaz-Manera, Luis Querol, Aída Alejaldre, Ricard Rojas-García, Alba Ramos-Fransi, Eduard Gallardo, Isabel Illa

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Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by episodes of weakness. Although TPP has been described in patients all over the world, it is especially frequent in Asiatic patients. Recently, two genomewide association studies have found a susceptibility locus on chromosome 17q24.3 near the KCNJ2 gene, which is responsible for another cause of periodic paralysis, the Andersen-Tawil syndrome (ATS). We report the first patient diagnosed with ATS with a de novo c.G899C mutation in the KCNJ2 gene in 2010 who developed an autoimmune hyperthyroidism and TPP in 2013. At the time of the ATS diagnosis other causes of periodic paralysis, including thyroid dysfunction, were ruled out. The condition of the patient, who had mild episodes of proximal weakness at follow-up, deteriorated dramatically in 2013, presenting continuous episodes of severe generalized weakness associated with low levels of potassium requiring frequent admissions to the hospital. After a few months, he also presented signs of hyperthyroidism, and a diagnosis of Grave's disease was made. In our opinion, this case clearly demonstrates that a dysfunction of the Kir2.1 potassium channel encoded by the KCNJ2 gene is a risk factor to develop TPP, and can be a useful tool to identify patients at risk in daily clinics. © 2014 The Japan Society of Human Genetics All rights reserved.
Idioma originalEnglish
Pàgines (de-a)465-466
RevistaJournal of Human Genetics
Estat de la publicacióPublicada - 1 de gen. 2014


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