Abstract
ABSTRACT Introduction: Gitelman's syndrome is an infrequent tubulopathy, transmitted by autosomal recessive inheritance due to mutations of the SLC12A3 gene, which is responsible for encoding the cotransporter Na Cl synthesis of the distal convoluted tubule. This tubulopathy is characterized by hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis. Signs and symptoms are avid for salty foods, normal or low blood pressure, physical exercise intolerance, growth retardation, and short stature. Case Description: An 11-year-old male patient who presented weakness of upper and lower limbs on admission associated with muscle weakness. The physical examination of income is normal. Initial laboratory tests showed serum potassium of 2.8 mEq / L sodium of 132 mEq / L, chlorine of 84.26 mEq / L, magnesium of 1.4 mEq / L, calcium of 11.3 mEq / L. Venous gasometry at pH 7.42, pCO2, 34.1mmHg; PO2 36.8mm; Bicarbonate 31mmol / L. Conclusion: It is important to consider Gitelman's syndrome, since it is possible to suspect if a patient presents with tiredness, muscle weakness or saltiness, supporting a diagnosis of serum electrolytes. Treatment should be started with oral magnesium supplements and periodic monitoring. Key words: Gitelman's syndrome; Hypokalemia; Metabolic alkalosis; Hypomagnesaemia. (source: MeSH NLM) DOI: 10.25176/RFMH.v18.n3.1597
Highlights
which is responsible for encoding the cotransporter Na Cl synthesis of the distal convoluted tubule
This tubulopathy is characterized by hypokalemia
Signs and symptoms are avid for salty foods
Summary
Este tubulopatia está caracterizada por hipokalemia, hipomagnesemia, hipocalciuria y alcalosis metabolica. Entre los signos y síntomas tenemos avidez por comidas saladas, presión arterial normal o baja, intolerancia al ejercicio físico, retraso de crecimiento y talla baja. Descripción del caso: Paciente varón de 11 años de edad que al ingreso presenta debilidad de miembros superiores e inferiores asociado a debilidad muscular. Los exámenes de laboratorio de inicio mostraron potasio sérico de 2.8 mEq/L sodio de 132 mEq/L, cloro de 84.26 mEq/L, magnesio de 1.4 mEq/L, calcio de 11.3 mEq/L. Conclusión: Es importante tener en cuenta al síndrome de Gitelman ya que se puede sospechar si un paciente presenta cansancio, debilidad muscular o avidez por la sal, apoyando al diagnóstico un examen de electrolitos séricos. Palabras clave: Síndrome de Gitelman; Hipokalemia; Alcalosis metabólica; Hipomagnesemia. Palabras clave: Síndrome de Gitelman; Hipokalemia; Alcalosis metabólica; Hipomagnesemia. (fuente: DeCS BIREME)
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