Parálisis periódica tirotóxica hipopotasémica. Presentación de un caso

RESUMEN La parálisis periódica tirotóxica hipopotasémica es una entidad poco frecuente, con mayor prevalencia en el género masculino, y en la población asiática; caracterizada por debilidad muscular, asociada a hipopotasemia, y como una complicación del hipertiroidismo, generalmente secundario a enfermedad de Graves. El tratamiento se basa en la reposición del déficit de potasio, vigilancia cardiovascular, y manejo de la enfermedad de base, con restauración del eutiroidismo. Se presenta un paciente de 38 años de edad, con varios antecedentes patológicos personales, quien acudió por asistencia médica a causa de un cuadro clínico de 48 horas de evolución de tetraparesia, sin otra sintomatología.

ABSTRACT Hypokalemic thyrotoxic periodic paralysis is a rare entity, with a higher prevalence in males, and in the Asian population; characterized by muscle weakness, associated with hypokalaemia, and as a complication of hyperthyroidism, usually secondary to Graves' disease. Treatment is based on replacement of the potassium deficit, cardiovascular monitoring, and management of the underlying disease, with restoration of euthyroidism. A 38-years-old patient is presented, with several personal pathological antecedents, who came for medical assistance due to a 48-hour clinical picture of tetraparesis, with no other symptoms.

Parálisis periódica hipopotasémica. Presentación de un caso / Hypokalemic periodic paralysis. Presentation of a case

RESUMEN La parálisis periódica hipopotasémica generalmente es causada por mutaciones autosómicas dominantes en el gen del canal de calcio dependiente del voltaje; las crisis de debilidad, suelen persistir durante horas o días antes de resolverse gradualmente; el nivel de potasio sérico puede estar bajo o normal durante la crisis. Este trastorno puede presentarse de forma adquirida en afecciones como pérdidas digestivas de potasio, diuréticos depletantes de potasio, entre otras. Se describe el caso de un paciente de piel blanca, de 53 años de edad, que acudió a consulta por pérdida de la fuerza muscular en los cuatro miembros, y reflejos osteotendinosos conservados. En los complementarios solo llamó la atención los bajos valores de potasio sérico (1,99 mmol/L). La escasa frecuencia con que se presenta este trastorno, la forma de presentación en este paciente, y la probabilidad de confundirlo con otras enfermedades, motivaron la publicación del artículo.

ABSTRACT Hypokalemic periodic paralysis is generally caused by autosomal dominant mutations in the voltage-dependent calcium channel gene; seizures of weakness usually persist for hours or days before gradually resolving; the serum potassium level may be low or normal during the crisis. This disorder can present in an acquired way in conditions such as digestive losses of potassium, potassium-depleting diuretics, among others. The case of a 53-year-old white-skinned patient who came to the clinic due to loss of muscle strength in all four limbs, and preserved osteotendinous reflexes it is describe. In the tests, only the low serum potassium values (1.99 mmol / L) stand out. The rare frequency with which this disorder occurs, the form of presentation in this patient, and the probability of confusing it with other diseases, motivated the publication of the article.

Atypical clinical presentation of distal renal tubular acidosis: a case report registered in Amazonas, Brazil / Apresentação clínica atípica da acidose tubular renal distal: relato de caso registrado no Amazonas, Brasil

ABSTRACT We report an unusual case of a 24-year-old girl with a history of recurrent hypokalemic paralysis episodes and skin lesions on the lower limbs and buttocks, both of which had an acute evolution. In subsequent investigations, the patient also had nephrocalcinosis, nephrolithiasis, hyperchloremic metabolic acidosis and persistent alkaline urinary pH. The findings were consistent with distal renal tubular acidosis as the cause of hypokalemic paralysis. Clinical findings, immunological tests and the result of skin biopsy suggested primary Sjögren's syndrome as an underlying cause. The patient developed azotemia due to obstructive nephrolithiasis. All the features presented in this case are an unusual manifestation of distal renal tubular acidosis; so far, we are not aware of a similar report in the literature.

RESUMO Relatamos um caso incomum de uma jovem de 24 anos com história de episódios recorrentes de paralisia hipocalêmica e lesões cutâneas em membros inferiores e nádegas, ambas de evolução aguda. Em investigações subsequentes, verificou-se que a paciente apresentava nefrocalcinose, nefrolitíase, acidose metabólica hiperclorêmica e pH urinário persistentemente alcalino. Os achados foram consistentes com acidose tubular renal distal como causa da paralisia hipocalêmica. Achados clínicos, exames imunológicos e o resultado da biópsia de pele foram compatíveis com a síndrome de Sjögren primária como causa subjacente. A paciente evoluiu com azotemia em decorrência da nefrolitíase obstrutiva. Todas as características apresentadas nesse caso são uma manifestação incomum de acidose tubular renal distal; até o momento, não temos conhecimento de um relato semelhante na literatura.

Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis.

Hypokalemic periodic paralysis type 1 (OMIM; HOKPP1) and type 2 (OMIM; HOKPP2) are diseases of the muscle characterized by episodes of painless muscle weakness, and is associated with low potassium blood levels. Hyperthyroidism has been associated with thyrotoxic periodic paralysis (TTPP) (OMIM; TTPP1 and TTPP2), and genetic susceptibility has been implicated. In the present study, the clinical and epidemiological characteristics of patients with TTPP are described, together with their association with genetic variants reported previously in other populations. A prospective and a retrospective search of the medical records of patients who attended the emergency department at the Hospital Universitario 'Dr. Jose E. Gonzalez' in Monterrey, Nuevo León, Mexico, and were diagnosed with TTPP was performed. A total of 16 gene variants in the genes MUC1, CACNA1S, KCNE3 and SCN4A, and nine ancestry informative markers (AIMs), were analysed by Multiplex TaqMan™ Open Array assay, and a genetic association study was performed. A total of 11 patients were recruited, comprising nine males and two females (age range, 19-52 years) and 64 control subjects. Only two cases (18%) had a previous diagnosis of hyperthyroidism; the rest were diagnosed subsequently with Graves' disease. Based on the analysis, two DNA variants were found to potentially confer an increased risk for TTPP: S1PR1 rs3737576 [odds ratio (OR), 4.38; 95% confidence interval (CI), 1.08-17.76] and AIM rs2330442 (OR, 4.50; 95% CI, 1.21-16.69), and one variant was suggested to be possibly associated with TTPP, namely MUC1 rs4072037 (OR, 3.08; 95% CI, 0.841-1.38). However, there were no statistically significant associations between any of the 24 DNA variants and TTPP in a population from northeast Mexico.

Reconhecimento da paralisia periódica hipocalêmica tireotóxica na emergência: relato de caso e revisão da literatura / Recognizing thyrotoxic hypokalemic periodic paralysis on emergency settings: a case report and literature revie

A paralisia periódica hipocalêmica tireotóxica é uma complicação inusitada do hipertireoidismo, porém é considerada urgência endocrinológica e ainda frequentemente subdiagnosticada. Sua apresentação clínica consiste na tríade de défice de potássio, tireotoxicose e fraqueza muscular ­ sendo esse último sintoma comum em diversas patologias. Realizamos uma revisão bibliográfica e destacamos, por meio do relato de caso, a importância do diagnóstico precoce dessa doença, possibilitando uma evolução favorável ao paciente, independente de sua etnia, sexo ou região geográfica. Atentamos ainda ao tratamento da doença, que, apesar de sua simplicidade, acarreta muitos equívocos.

The thyrotoxic hypokalemic periodic paralysis is a rare complication of hyperthyroidism, but is considered an endocrinological urgency, and yet frequently underdiagnosed. Its clinical presentation consists of potassium deficit, thyrotoxicosis, and muscular weakness, with the latter symptom being very common in several pathologies. We performed a bibliographic review and highlight, through a case report, the importance of the early diagnosis of this disease to allow favorable progression to the patient, regardless of ethnicity, sex, or geographical region. We also reinforce the importance of the disease treatment which, despite its simplicity, leads to many mistakes.

Caso Clínico: Parálisis Periódica Hipopotasémica / Case Report: Hypokalemic Periodic Paralysis

INTRODUCCIÓN: La parálisis periódica hipopotasémica es una enfermedad poco frecuente. Se caracteriza por episodios de debilidad muscular o plejia, reversible con la normalización de los niveles de potasio. Al ser una entidad poco común, el reporte del presente caso será de utilidad para el diagnóstico diferencial de la debilidad muscular aguda. CASO CLÍNICO: Paciente masculino de 22 años de edad, que posterior a ejercicio físico extenuante e ingesta moderada de hidratos de carbono y alcohol, presenta debilidad muscular aguda de miembros superiores e inferiores. EVOLUCIÓN: Al ingreso se realizó el diagnóstico de polirradiculoneuropatía desmielinizante aguda, administrándose una dosis de inmunoglobulina humana. Sin embargo, una vez obtenidos los resultados de laboratorio, se evidenció un potasio sérico de 2.4 mEq/L. Se inició la reposición con cloruro potásico en infusión. El paciente fue valorado por neurología y genética, con base en la anamnesis, examen físico, laboratorios y cuadro clínico del paciente, se realizó el diagnóstico de parálisis periódica hipopotasémica. Paciente presentó una evolución favorable, recibiendo el alta al cuarto día de hospitalización. CONCLUSIONES: La parálisis periódica hipopotasémica es una entidad poco frecuente, raramente incluida en el diagnóstico diferencial de la debilidad muscular aguda. La identificación oportuna y la consejería apropiada son esenciales para la prevención de complicaciones potencialmente mortales para el paciente.

BACKGROUND: Hypokalemic periodic paralysis is a rare disease, characterized by episodes of limb muscle weakness, reversible with the normalization of potassium levels. Being a rare entity, this report will be useful for the differential diagnosis of acute muscle weakness. CASE REPORT: A 22-year-old male patient, who after strenuous physical activity and a moderate intake of carbohydrates and alcohol, presented acute muscle weakness of the upper and lower limbs. EVOLUTION: On admission, the patient was diagnosed of acute demyelinating polyradiculoneuropathy, administering a dose of human immunoglobulin. However, once the laboratory results were available, a serum potassium of 2.4 mEq/L was evidenced. The replacement was started with potassium chloride in infusion. The patient was evaluated by neurology and genetics. Based on the anamnesis, physical examination, laboratories and clinical picture of the patient, the diagnosis of hypokalemic periodic paralysis was made. Patient presented a favorable evolution, receiving discharge on the fourth day of hospitalization. CONCLUSIONS: Hypokalemic periodic paralysis is an uncommon disease, rarely included in the differential diagnosis of acute muscle weakness. Timely identification and appropriate counseling are essential for the prevention of life-threatening complications.

Case Report: Recurrent hypokalemic periodic paralysis associated with distal renal tubular acidosis (type 1) and hypothyroidism secondary to Hashimoto's thyroiditis.

Background: Hypokalemic periodic paralysis (HypoKPP) is characterized by transient episodes of flaccid muscle weakness. We describe the case of a teenaged boy with HypoKPP and hyperthyroidism due to Hashimoto's thyroiditis with initial manifestation of renal tubular acidosis. This combination is rare and little described previously in men. Case presentation: A 17-year-old boy was admitted after three days of muscular weakness and paresthesia in the lower limbs with an ascending evolution, leading to prostration. Decreased strength was found in the lower limbs without a defined sensory level, reduced patellar and ankle reflexes. Positive antithyroid antibodies were found. He received hydration treatment, IV potassium and levothyroxine, with which there was a clinical improvement. Other examinations led to the diagnosis of type 1 renal tubular acidosis. Conclusion: HypoKPP is a rare disorder characterized by acute episodes of muscle weakness. Type 1 renal tubular acidosis can occur as a consequence of thyroiditis, which is explained by the loss of potassium. This combination is unusually rare, and has not been described before in men. The etiopathogenesis of the disease as well as a dynamic explanation of what happened with the patient are discussed in this report.

Persistent severe hypokalemia: Gitelman syndrome and differential diagnosis / Hipocalemia grave persistente: Síndrome de Gitelman e diagnósticos diferenciais

Abstract The main causes of hypokalemia are usually evident in the clinical history of patients, with previous episodes of vomiting, diarrhea or diuretic use. However, in some patients the cause of hypokalemia can become a challenge. In such cases, two major components of the investigation must be performed: assessment of urinary excretion potassium and the acid-base status. This article presents a case report of a patient with severe persistent hypokalemia, complementary laboratory tests indicated that's it was hypomagnesaemia and hypocalciuria associated with metabolic alkalosis, and increase of thyroid hormones. Thyrotoxic periodic paralysis was included in the differential diagnosis, but evolved into euthyroid state, persisting with severe hypokalemia, which led to be diagnosed as Gitelman syndrome.

Resumo As principais causas de hipocalemia normalmente são evidentes na história clínica dos pacientes em investigação etiológica, com episódios prévios de vômitos, diarréia ou uso de diuréticos. Entretanto, em alguns pacientes, a causa da hipocalemia pode se tornar um desafio. Em tais casos, dois principais componentes da investigação devem ser realizados: avaliação da excreção do potássio urinário e do "status" ácido-básico. Este artigo traz um relato de caso de uma paciente portadora de hipocalemia grave persistente, com investigação laboratorial complementar caracterizada por hipomagnesemia e hipocalciúria, associada à alcalose metabólica e elevação dos hormômios tireoideanos. A apresen- tação inicial do quadro incluiu paralisia periódica tireotóxica como um dos principais diagnósticos diferenciais, porém, a paciente evoluiu para um es- tado eutireoideo e persistiu com grave hipocalemia, sendo, por fim, realizado diagnóstico clínico de Síndrome de Gitelman.

Paralisia periódica hipocalêmica tireotóxica: relato de caso / Thyrotoxic hypokalemic periodic paralysis: a case report

Relata-se neste artigo o caso de um paciente de ascendência negra com quadro agudo e progressivo de paralisia flácida ascendente, sem comprometimento de musculatura respiratória ou facial, em vigência de hipertireoidismo em tratamento e hipocalemia desencadeados por quadro infeccioso. Foi realizado o diagnóstico de paralisia periódica hipocalêmica tireotóxica e controle inicial dos sintomas por adequação sérica do potássio e posterior resolução do quadro após tratamento com iodoterapia.

It is reported in this paper the case of a black ancestry patient with acute and progressive framework ascending flaccid paralysis without impairment of respiratory and facial muscles, in effect in treatment of hyperthyroidism and hypokalemia triggered by infection. The diagnosis of thyrotoxic hypokalemic periodic paralysis was accomplished and initial symptoms were controlled for adequacy of serum potassium and subsequent resolution after treatment with radioiodine.

Parálisis periódica tirotóxica / Thyrotoxic periodic paralysis

Presentamos el caso de un hombre de 39 años quien sufrió dos episodios de parálisis por hipocaliemia asociado a hipertiroidismo. Esta entidad inusual y considerada casi exclusiva de los países asiáticos también ha sido documentada en países occidentales; por tanto, damos a conocer este caso para ser tenido en cuenta entre los diagnósticos diferenciales en los servicios de urgencias (Acta Med Colomb 2011; 36: 145-148).

We recorded the case of a 39 year-old man who suffered two episodes of paralysis and hipokalemia associated with hyperthyroidism. This unusual entity, almost exclusively of asian countries, has been documented in western countries; therefore, we present this case to be considered in the differential diagnosis in emergency departments (Acta Med Colomb 2011; 36: 145-148).

Parálisis periódica hipopotasémica tirotóxica: Caso clínico / Thyrotoxic hypokalemic periodic paralysis: Report of one case

Thyrotoxic hypokalemic periodic paralysis is characterized by attacks of generalized weakness associated to hypokalemia in patients with hyperthyroidism. We report a 25-year-old man with a history of spontaneously relapsing episodes of muscular weakness, who consulted for a rapidly evolving upper and lower limb paresis. Hypokalemia associated to a primary hyperthyroidism was detected. Treatment with antithyroid Drugs and potassium supplementation reverted symptoms and the episodes of acute muscular weakness did not reappear.