title: [Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients].
abstract: Thyrotoxic hypokalemic periodic paralysis (THPP) is a medical emergency characterized by acute attacks of weakness, hypokalemia, and thyrotoxicosis that resolve with the treatment of hyperthyroidism. Attacks are transient, self-limited, associated with hypokalemia and resemble those of familial hypokalemic periodic paralysis (FHPP), an autosomal dominant neurological channelopathy. This study reviews the clinical features and genetic findings of THPP in 25 Brazilian patients. Most patients had weight loss, taquicardia, goiter, tremor, and ophthalmopathy. Most often attacks arose during the night and recovered spontaneously but some patients evolved to total quadriplegia, and few experienced cardiac arrhythmias. All patients had suppressed TSH and elevated T4 and most had positive anti-thyroid antibodies, indicating autoimmunity thyrotoxic etiology. Potassium was low in all patients during the crisis. Prophylactic potassium therapy has not been shown to prevent attacks; however it was useful for curbing the paralysis during the crisis. We identified the mutation R83H in the KCNE3 gene in one sporadic case, and M58V in the KCNE4 gene in one case with family history. Furthermore, we identified other genetic polymorphisms in the CACNA1S, SCN4A, KCNE1, KCNE2, KCNE1L, KCNJ2, KCNJ8 e KCNJ11 genes. We conclude that THPP is the most common treatable cause of acquired periodic paralysis; therefore, it must be included in the differential diagnosis of acute muscle weakness.
authors.affiliation: Laboratório de Endocrinologia Molecular, Centro de Pesquisas do Genoma J.F. Perez, Departamento de Morfologia, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP.
authors.forename: Magnus R Dias da
authors.initials: MR
authors.lastname: Silva
authors.forename: Maria Izabel
authors.initials: MI
authors.lastname: Chiamolera
authors.forename: Teresa S
authors.initials: TS
authors.lastname: Kasamatsu
authors.forename: Janete M
authors.initials: JM
authors.lastname: Cerutti
authors.forename: Rui M B
authors.initials: RM
authors.lastname: Maciel
mesh_terms: D000293:Adolescent; D000328:Adult; D004630:Emergencies; D005260:Female; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D013971:Thyrotoxicosis / Q000150:complications*