ABSTRACT
El síndrome de Gitelman es una tubulopatía de herencia autosómica recesiva en el que la alteración fundamental se halla en el túbulo distal, concretamente a nivel del cotransportador Na/Cl, sensible a las tiazidas, codificado en el cromosoma 16q. Cursa con alcalosis metabólica con normotensión, hipopotasemia, así como hipomagnesemia e hipocalciuria que la diferencian del síndrome de Bartter. Su diagnóstico puede demorarse hasta la edad adulta ya que los pacientes pueden mantenerse asintomáticos durante largos períodos de tiempo. El tratamiento consiste en suplementos orales de potasio y magnesio, así como también se ha descrito la utilidad de diuréticos ahorradores de potasio e indometacina (AU)
Gitelman's syndrome is a renal tubule disease of recessive autosomal inheritance in which the fundamental alteration is found in the distal tubule, specifically at the level of the Na/Cl cotransporter, is sensitive to thiazides, and coded in chromosome 16q. It is characterised by a metabolic alkalosis with normal blood pressure, hypokalaemia, as well as hypomagnesaemia and hypocalciuria, which separate it from Bartter's syndrome. Its diagnosis can be delayed up to the adult age, as patients may remain asymptomatic for long periods of time. The treatment consists of oral supplements of potassium and magnesium, and the use of potassium-sparing diuretics and indomethacin has also been described (AU)
Subject(s)
Humans , Male , Female , Gitelman Syndrome/diagnosis , Hypokalemia/complications , Hypokalemia/diagnosis , Alkalosis/complications , Alkalosis/metabolism , Diagnosis, Differential , Gitelman Syndrome/epidemiology , Gitelman Syndrome/physiopathology , Potassium/therapeutic use , Indomethacin/therapeutic use , Primary Health Care/methods , Primary Health Care/trends , Primary Health Care , Bartter Syndrome/complications , Bartter Syndrome/diagnosisABSTRACT
Gitelman's syndrome is a renal tubule disease of recessive autosomal inheritance in which the fundamental alteration is found in the distal tubule, specifically at the level of the Na/Cl cotransporter, is sensitive to thiazides, and coded in chromosome 16q. It is characterised by a metabolic alkalosis with normal blood pressure, hypokalaemia, as well as hypomagnesaemia and hypocalciuria, which separate it from Bartter's syndrome. Its diagnosis can be delayed up to the adult age, as patients may remain asymptomatic for long periods of time. The treatment consists of oral supplements of potassium and magnesium, and the use of potassium-sparing diuretics and indomethacin has also been described.
Subject(s)
Bartter Syndrome/diagnosis , Gitelman Syndrome/diagnosis , Hypokalemia/etiology , Adult , Diuretics, Potassium Sparing/therapeutic use , Female , Gitelman Syndrome/drug therapy , Gitelman Syndrome/physiopathology , Humans , Incidental Findings , Indomethacin/therapeutic use , Magnesium/therapeutic use , Potassium/therapeutic useABSTRACT
La polimialgia reumática (PMR) es una enfermedad inflamatoria crónica que se diagnostica generalmente en las consultas de atención primaria a pacientes mayores de 50 años. El diagnóstico se basa fundamentalmente en el cuadro clínico, pruebas analíticas y la respuesta terapéutica a los corticosteroides. La clínica se caracteriza por dolor simétrico y rigidez de cintura escapular y pelviana y en columna cervical. Existen diferentes tablas de criterios diagnósticos de PMR, aunque se considera que los criterios de Bird son los que poseen mayor sensibilidad. El diagnóstico diferencial se realiza con enfermedades reumatológicas, infecciosas, autoinmunes y traumatológicas. Especial interés presenta la relación entre PMR y arteritis de células gigantes, dado que hay veces que coexisten. El tratamiento debe realizarse con corticosteroides, que proporcionan una pronta mejoría, aunque se desconoce el tiempo de duración de este. También se han realizado estudios con metotrexato e infliximab para disminuir el tiempo y las dosis de corticosteroides (AU)
Polymyalgia rheumatica (PMR) is a chronic inflammatory disease which is generally diagnosed in primary care in patients older than 50 years. The diagnosis is based on clinical findings, analytical tests and the response to corticoids. Clinical findings are symmetrical pain and stiffness affecting shoulders, hips and cervical spine. There are several diagnostic criteria of PMR, with Bird¿s Criteria being the most sensitive. PMR differential diagnosis is made with rheumatic, infectious, autoimmune and osteoarticular diseases. There is a special interest in the relationship between PMR and giant cell arteritis as this association is not uncommon. The treatment of choice for PMR is corticoid therapy, showing a sharp clinical improvement, but its maintenance period is unknown, and should be determined empirically. Some studies show that other immunomodulatory drugs, such as methotrexate and infliximab can be added to reduce the length of the corticoid treatment (AU)
