Thyrotoxic periodic paralysis: An increasingly common complication of hyperthyroidism

García-Martín, Antonia; García-Castro, José Miguel; Cortés-Berdonces, María; Varsavsky, Mariela; Vela, Enrique

doi:10.1016/j.endoen.2012.07.002

Cited by 3 publications

(1 citation statement)

References 9 publications

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“…La testosterona también promueve el ingreso de potasio al interior de la célula lo que podría explicar la mayor prevalencia en hombres (19). Mutaciones en el gen KCNJ18 que se encuentra en el cromosoma 17p11.1-2, que codifica el canal rectificador de potasio Kir2.6 (transcripcionalmente regulado por T3); implicado en el transporte del potasio intracelular e igualmente hacia al espacio extracelular, hacen que su función esté ausente agravando aún más la hipocaliemia, confiriendo susceptibilidad a sufrir parálisis hipocaliémica tirotóxica (11,21). De esta forma, la susceptibilidad individual relacionada a estas condiciones genéticas en un estado de exceso de hormonas tiroideas originan las diferentes manifestaciones de presentación de la enfermedad.…”

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Parálisis períodica hipocalcémica tirotóxica

Pinzón

Vásquez

2014

Rev. Med.

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ResumenLa parálisis hipocalémica tirotóxica se consideró una patología exclusiva de Asia, pero las migraciones han permitido la trasmisión genética de la condición a América Latina. La entidad se presenta más frecuentemente en hombres y se relaciona a alteraciones en el transporte del potasio asociadas al exceso de hormonas tiroideas circulantes. Se realiza revisión de la literatura ilustrando el caso de un hombre de 29 años con enfermedad de Graves, parálisis hipocaliémica y falla respiratoria.Palabras claves: hipertiroidismo, hipocaliemia, parálisis periódica. THYROTOXIC HYPOKALEMIC PERIODIC PARALYSIS AbstractThyrotoxic hypokalemic paralysis was considered an exclusive disease of Asia, but migration has allowed genetic transmission of the condition to Latin America. The entity appears more frequently in men and is related to alterations potassium's transport, associated with increased circulating thyroid hormones. Literature review conducted illustrating the case of 29 years old man with Graves' disease, hypokalemic paralysis and respiratory failure.Keywords: hyperthyroidism, hypokalemia, periodic paralysis. PARALISIA PERIÓDICA HIPOCALÉMICA TIROTÓXICA ResumoA paralise hipocalémica tirotóxica considerou-se uma patologia exclusiva da Ásia, mais as migrações tem permitido a transmissão genética da condição para America Latina. A entidade apresenta-se freqüentemente em homens e relaciona-se com alterações no transporte do potássio associadas ao excesso da circulação de hormônios da tireóides. Se faz uma revisão da literatura com o caso de um homem de 29 anos com doença de graves, paralise hipocalémica e insuficiência respiratória.Palavras chave: hipertireoidismo, hipocalemia, paralise periódica.

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Section: Discussionunclassified

Parálisis períodica hipocalcémica tirotóxica

Pinzón

Vásquez

2014

Rev. Med.

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Generalised weakness in a young patient: a cause for concern?

et al. 2014

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Muscular weakness in young patients is usually due to mild, self-limiting causes. Nonetheless, it is important to remember other, more serious aetiologies which can cause this clinical picture. Thyrotoxic hypokalaemic periodic paralysis (THPP) is a rare disease in Europe and the USA, with fatal cardiovascular and respiratory complications. It is characterised by recurrent episodes of generalised muscular weakness, especially in the legs, with an associated hypokalaemia and hyperthyroidism. Diagnosis is based on clinical history, laboratory tests and an ECG. Early treatment focused on cautious correction blood potassium and non-cardiac selective β-blockers. Additionally, it is imperative to normalise thyroid function to prevent relapses. We present a young, healthy man to the emergency department with episodes of intermittent leg weakness. The history and the ECG findings allowed for the diagnosis of THPP to be reached with early treatment causing remission.

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A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome

Zhang

Chen

et al. 2016

Braz J Med Biol Res

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Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequencing. Complete sequencing analysis of the SLC12A3 gene revealed that both the proband and his elder sister had a novel homozygous SLC12A3 mutation: c.2099T>C and p.Leu700Pro. Moreover, the SLC12A3 genes of his mother and daughter encoded the same mutated heterozygote. It was noted that in this pedigree, only the proband complained about recurrent episodes of bilateral lower limb weakness over 8 years, while his elder sister, mother and daughter did not present symptoms. The inconsistent clinical features of this pedigree implied that besides diverse phenotypes possibly originated from the same genotype, gender difference may also dominate the variant GS phenotypes. Further genetic and proteomic research are needed to investigate the precise mechanisms of GS, including the study of specific ethnicities.

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Thyrotoxic periodic paralysis: An increasingly common complication of hyperthyroidism

Cited by 3 publications

References 9 publications

Parálisis períodica hipocalcémica tirotóxica

Parálisis períodica hipocalcémica tirotóxica

Generalised weakness in a young patient: a cause for concern?

A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome

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