Síndrome de Gitelman, causa rara de hipopotasemia refractaria

• Published in: Revista de la Facultad de Medicina, Universidad Nacional de Colombia Universidad Nacional de Colombia, 2022, Vol.70 (1), p.104-110
• Main Authors: Delgado-Truque, Andrés Emilson, Zambrano Urbano, Jose Leonel, Ocampo Chaparro, José Mauricio, Castro-Flórez, Ximena
• Format: Article
• Language: Spanish
• Subjects: Deficiencia de magnesio (DeCS); Gitelman Syndrome; Hipopotasemia; Hypokalemia; Magnesium Deficiency (MeSH); Member 3; Miembro 3 de la familia de transportadores de soluto 12; Solute Carrier Family 12; Síndrome de Gitelman
• ISSN: 0120-0011; 2357-3848

Introduction: Gitelman syndrome is a rare hereditary primary renal tubular disorder, with a prevalence of approximately 1 to 10 cases per 40 000 people. It does not have specific symptoms, so its diagnosis depends on high clinical suspicion by the treating physical and a sequential approach to hypokalemia, especially in young patients. Thus, a diagnostic algorithm is proposed at the end of this report. Case presentation: A 23-year-old woman with a history of hospitalization due to hypokalemia presented to the emergency service with intermittent cramping in her lower limbs, which was exacerbated by gastrointestinal symptoms. Laboratory tests reported the following findings: metabolic alkalosis, elevated levels of potassium, magnesium, chloride and sodium in urine, and reduced levels of calcium in urine. Thus, potassium supplementation and eplerenone administration were started, obtaining the complete resolution of symptoms. At her last follow-up appointment, the patient was asymptomatic, and her serum electrolyte levels were normal. In addition, during her hospital stay and due to the high suspicion of Gitelman syndrome, a genetic study was performed, which reported a mutation of the SCL12A3 gene, confirming the diagnosis. Conclusion: The sequential approach to a patient with recurrent hypokalemia is very important to reach an accurate diagnosis among a wide range of differential diagnoses. A síndrome de Gitelman é um distúrbio tubular renal primário hereditário raro, caracterizado por hipocalemia, hipomagnesemia, alcalose metabólica, normocalcemia e hipocalciúria. A maioria dos pacientes tem um curso benigno. Se presentes, os sintomas incluem fadiga e fraqueza muscular (cãibras), como sintomas mais frequentes e histórico de múltiplas hospitalizações por hipocalemia. O tratamento é baseado em diuréticos poupadores de magnésio, potássio e / ou potássio. Relatamos um caso clínico da síndrome de Gitelman em um paciente de 23 anos que apresenta as características clínicas, laboratoriais e moleculares da doença, enfatizando seu diagnóstico e ações terapêuticas, denotando a importância de uma abordagem adequada para a paciente jovem com hipocalemia, usando um algoritmo de diagnóstico, proposto no final do artigo. É importante conhecer esses casos clínicos, pois amplia a visão geral da hipocalemia e permite fazer um mapa mental dos diferentes diagnósticos diferenciais e como chegar à etiologia e, portanto, ao respectivo tratamento.