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Abstract(s)
A Paralisia PeriĆ³dica HipocaliĆ©mica Familiar Ć© uma doenƧa rara, com uma prevalĆŖncia de 1:100000, de caracter genĆ©tico autossĆ³mico dominante, com inĆcio na idade pediĆ”trica. Esta patologia manifesta-se por episĆ³dios de paralisia muscular dos membros, mais frequentemente tetraplegia, com duraĆ§Ć£o de minutos a dias, associados a hipocaliĆ©mia, podendo haver tambĆ©m envolvimento dos mĆŗsculos respiratĆ³rios e arritmias cardĆacas. As estratĆ©gias de tratamento consistem no tratamento dos episĆ³dios agudos com suplementos orais ou intravenosos de potĆ”ssio, e no tratamento preventivo com inibidores da anidrase carbĆ³nica e suplementos de potĆ”ssio.
Neste trabalho, Ć© relatado o caso de uma adolescente de 12 anos, que recorreu ao serviƧo de urgĆŖncia por episĆ³dio sĆŗbito de tetraplegia, associada a hipocaliĆ©mia, com 6 horas de evoluĆ§Ć£o. A paciente apresentava ainda alteraƧƵes cardiovasculares, nomeadamente, aumento do intervalo PQ, ligeiro infradesnivelamento do segmento ST e ondas U proeminentes. VĆ”rios membros da famĆlia materna encontravam-se diagnosticados com Paralisia PeriĆ³dica HipocaliĆ©mica Familiar. A paciente, perante o quadro clĆnico, anĆ”lises laboratoriais e exclusĆ£o de outras causas de hipocaliĆ©mia, foi diagnosticada com Paralisia PeriĆ³dica HipocaliĆ©mica Familiar. A paciente foi internada e medicada com cloreto de potĆ”ssio 7,5% para tratamento do episĆ³dio agudo, tendo apresentado posteriormente, remissĆ£o completa dos sintomas. Aquando da alta, foi prescrito tratamento de prevenĆ§Ć£o com acetazolamida 250 mg e cloreto de potĆ”ssio a 7,5% 10 mEq em SOS, e a paciente foi encaminhada para a consulta de neuropediatria, na qual Ć©, atualmente, seguida. A paciente nĆ£o apresentou, desde entĆ£o, novos episĆ³dios de paralisia.
O presente trabalho teve como objetivo realizar uma revisĆ£o sobre as manifestaƧƵes clĆnicas e tratamentos eficazes na paralisia periĆ³dica hipocaliĆ©mica familiar, atravĆ©s da anĆ”lise de artigos publicados em bases de dados e revistas cientĆficas. Ć pretendido tambĆ©m comparar as metodologias descritas na bibliografia com as aplicadas no caso em estudo.
Perante o presente trabalho, Ć© possĆvel entĆ£o concluir que a Paralisia PeriĆ³dica HipocaliĆ©mica Familiar deve ser considerada como diagnĆ³stico diferencial em pacientes jovens com episĆ³dios sĆŗbitos de fraqueza muscular ou paralisia. Apesar de nos Ćŗltimos anos, o conhecimento sobre este tipo de patologia ter aumentado exponencialmente, Ć© ainda necessĆ”ria uma melhor compreensĆ£o de vĆ”rios fatores, assim como o desenvolvimento de estudos prospetivos para desenvolvimento de terapias mais eficazes.
Ć tambĆ©m possĆvel concluir que as medidas e decisƵes tomadas neste caso foram realizadas em concordĆ¢ncia com as orientaƧƵes e bibliografia existente.
Hypokalemic Periodic Paralysis (HypoPP) is a rare autosomal dominant disease, with a prevalence of 1 case per 100 000 population and beginning at the pediatric age. This disease is characterized by episodes of muscular paralysis of the limbs, most often quadriplegia, associated with hypokalemia. The involvement of the respiratory muscles and cardiac arrhythmias may occur in some patients with this disease. The duration of the symptoms can vary from minutes to days. Treatment strategies consist in the treatment of acute episodes with oral or intravenous potassium supplements, and preventive treatment with carbonic anhydrase inhibitors, and potassium supplements. In this work, we report the case of a 12-year-old teenager, presented to the emergency department with sudden onset of quadriplegia, associated with hypokalemia, with 6 hours of evolution. The patient also had cardiovascular alterations, such as increased PQ interval, slight depression of the ST segment and prominent U waves. Several members of the maternal family were diagnosed with Familial Hypokalemic Periodic Paralysis. Given the clinical picture, laboratory tests and exclusion of other causes of hypokalemia, the patient was diagnosed with Hypokalemic Periodic Paralysis. She was hospitalized and medicated with 7,5% potassium chloride to treat the acute episode. The patient presented complete remission of symptoms after a few hours of administration of potassium chloride. The patient was discharged medicated with acetazolamide 250 mg as preventive treatment and potassium chloride 7,5% 10 mEq in SOS. She was also referred to the neuropediatric consultation, where she is currently being followed. The patient hasnāt presented with new episodes of paralysis. The present study has the objective to conduct a review about clinical manifestations and effective treatments for Hypokalemic Periodic Paralysis through the analysis of articles published in databases and scientific journals. It is also intend to compare the methodologies described in the bibliography with those applied in the present case. Given the present work, it is possible to conclude that Hypokalemic Periodic Paralysis should be considered as a differential diagnosis in young patients with sudden episodes of muscular weakness or paralysis. Despite in the recent years, our knowledge of this type of pathology have increased exponentially, a better understanding of several factors is still needed, as well as the development of prospective studies to develop more effective therapies. It is also possible to conclude that the measures and decisions taken in this case were performed in accordance with the guidelines and existing literature.
Hypokalemic Periodic Paralysis (HypoPP) is a rare autosomal dominant disease, with a prevalence of 1 case per 100 000 population and beginning at the pediatric age. This disease is characterized by episodes of muscular paralysis of the limbs, most often quadriplegia, associated with hypokalemia. The involvement of the respiratory muscles and cardiac arrhythmias may occur in some patients with this disease. The duration of the symptoms can vary from minutes to days. Treatment strategies consist in the treatment of acute episodes with oral or intravenous potassium supplements, and preventive treatment with carbonic anhydrase inhibitors, and potassium supplements. In this work, we report the case of a 12-year-old teenager, presented to the emergency department with sudden onset of quadriplegia, associated with hypokalemia, with 6 hours of evolution. The patient also had cardiovascular alterations, such as increased PQ interval, slight depression of the ST segment and prominent U waves. Several members of the maternal family were diagnosed with Familial Hypokalemic Periodic Paralysis. Given the clinical picture, laboratory tests and exclusion of other causes of hypokalemia, the patient was diagnosed with Hypokalemic Periodic Paralysis. She was hospitalized and medicated with 7,5% potassium chloride to treat the acute episode. The patient presented complete remission of symptoms after a few hours of administration of potassium chloride. The patient was discharged medicated with acetazolamide 250 mg as preventive treatment and potassium chloride 7,5% 10 mEq in SOS. She was also referred to the neuropediatric consultation, where she is currently being followed. The patient hasnāt presented with new episodes of paralysis. The present study has the objective to conduct a review about clinical manifestations and effective treatments for Hypokalemic Periodic Paralysis through the analysis of articles published in databases and scientific journals. It is also intend to compare the methodologies described in the bibliography with those applied in the present case. Given the present work, it is possible to conclude that Hypokalemic Periodic Paralysis should be considered as a differential diagnosis in young patients with sudden episodes of muscular weakness or paralysis. Despite in the recent years, our knowledge of this type of pathology have increased exponentially, a better understanding of several factors is still needed, as well as the development of prospective studies to develop more effective therapies. It is also possible to conclude that the measures and decisions taken in this case were performed in accordance with the guidelines and existing literature.
Description
Keywords
HipocaliĆ©mica e Tratamento Paralisia PeriĆ³dica Familiar