[Gitelman's Syndrome: from diagnosis to follow-up during pregnancy]. / Síndrome de Gitelman: do diagnóstico ao acompanhamento na gestação

Gitelman's Syndrome (GS) is a rare autosomal recessive salt-wasting nephropathy, classically characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and low blood pressure. Fatigue, muscle weakness and muscle paralysis are common symptoms. Besides the typical electrolyte disturbances, others laboratory findings include hyperreninemia and secondary hyperaldosteronism. Bilateral nephrocalcinosis may occur. The treatment consists of potassium replacement and use of aldosterone antagonists. The best approach to pregnant women with GS is yet to be defined. However, we emphasize the need for ions supplementation, weight control as a clinical tool for assessing the water balance, and frequent monitoring of the fetus and amniotic fluid levels. The surgical risk associated with cesarean section in a patient with GS is not yet defined. Despite the risks related to symptomatic episodes of hypokalemia/hypomagnesemia, GS has a good prognosis when treated properly. Pregnancy imposes the need for more intensive control of the disease, but has a good prognosis for the mother and neonate.

Síndrome de Gitelman: do diagnóstico ao acompanhamento na gestação / Gitelman's Syndrome: from diagnosis to follow-up during pregnancy

Resumo A síndrome de Gitelman (SG) é uma forma rara de nefropatia autossômica recessiva perdedora de sal, caracterizada classicamente por hipocalemia, hipomagnesemia, hipocalciúria, alcalose metabólica e pressão arterial baixa. Fadiga, fraqueza muscular e paralisia muscular estão entre seus sintomas mais comuns. Além dos distúrbios eletrolíticos típicos, outros achados laboratoriais incluem a hiperreninemia e o hiperaldosterismo secundário. Nefrocalcinose bilateral pode ocorrer. O tratamento consiste basicamente na reposição de potássio e uso de antagonistas da aldosterona. A melhor abordagem para gestantes portadoras de SG ainda está por ser definida. Entretanto, enfatiza-se a necessidade de suplementação dos íons, o controle do peso como ferramenta clínica de avaliação do balanço hídrico e a monitorização frequente do feto e dos níveis de líquido amniótico. O risco cirúrgico associado à cesariana em paciente com SG não está definido. Apesar dos riscos associados às crises sintomáticas de hipocalemia/hipomagnesemia, a SG apresenta bom prognóstico quando adequadamente tratada. A gravidez impõe a necessidade de controle mais intenso da doença, mas apresenta bom prognóstico para o binômio materno-fetal.

Abstract Gitelman's Syndrome (GS) is a rare autosomal recessive salt-wasting nephropathy, classically characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and low blood pressure. Fatigue, muscle weakness and muscle paralysis are common symptoms. Besides the typical electrolyte disturbances, others laboratory findings include hyperreninemia and secondary hyperaldosteronism. Bilateral nephrocalcinosis may occur. The treatment consists of potassium replacement and use of aldosterone antagonists. The best approach to pregnant women with GS is yet to be defined. However, we emphasize the need for ions supplementation, weight control as a clinical tool for assessing the water balance, and frequent monitoring of the fetus and amniotic fluid levels. The surgical risk associated with cesarean section in a patient with GS is not yet defined. Despite the risks related to symptomatic episodes of hypokalemia/hypomagnesemia, GS has a good prognosis when treated properly. Pregnancy imposes the need for more intensive control of the disease, but has a good prognosis for the mother and neonate.