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      Elevación crónica de Creatincinasa Translated title: Chronic creatinine elevation

      case-report

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          Abstract

          Las miopatías son entidades en las que se produce afectación musculoesquelética con elevación de creatincinasa en suero. La Enfermedad de Addison y la Hipertermia Maligna constituyen causas poco comunes de miopatía. La Enfermedad de Addison corresponde a una insuficiencia suprarrenal primaria producida por un déficit de glucocorticoides, mineralocorticoides y andrógenos por destrucción de la corteza suprarrenal, cuyos síntomas son inespecíficos y el tratamiento es con hidrocortisona. La Hipertermia Maligna se produce por una alteración genética en la que los anestésicos inhalados y los relajantes musculares desencadenan una hipertermia progresiva, con rigidez muscular, taquicardia, hipotensión, rabdomiolisis, y coagulación intravascular diseminada.

          Translated abstract

          Myopathy is a disease that affects the musculoskeletal system with elevated serum creatinine. Addison´s Disease and Malignant Hyperthermia, are rare causes of myopathy. Addison´s disease also known as primary adrenal insufficiency, occurs when the adrenal gland does not produce enough glucocorticoids, mineralcorticoids and androgens because of the destruction of the adrenal cortex. Symptoms are non specific and it is treated with hydrocortisone. Malignant Hyperthemia is a genetic disorder, in which inhaled anaesthetics and muscle relaxants, trigger progressive hyperthermia with muscle rigidity, tachycardia, hypotension, rhabdomyolysis, and disseminated intravascular coagulation.

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          Most cited references14

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          Malignant hyperthermia: update on susceptibility testing.

          Malignant hyperthermia (MH) is a pharmacogenetic clinical syndrome that manifests as a hypermetabolic crisis when a susceptible individual is exposed to an anesthetic triggering agent. Clinical signs include unexplained elevation of end-tidal carbon dioxide, muscle rigidity, acidosis, tachycardia, tachypnea, hyperthermia, and evidence of rhabdomyolysis. This process is a result of an abnormally increased release of calcium from the sarcoplasmic reticulum, which is often caused by an inherited mutation in the gene for the ryanodine receptor (RYR1) that resides in the membrane of the sarcoplasmic reticulum. The gold standard for determination of MH susceptibility is the caffeine-halothane contracture test. However, it is invasive, requiring skeletal muscle biopsy and is not widely available. Researchers have begun to map mutations within the ryanodine receptor gene (chromosome 19q13.1) responsible for conferring MH susceptibility. Ryanodine receptor mutations are found in at least 25% of known MH susceptible individuals in North America. Mutation analysis has recently become available in the United States and is expected to play an integral role in the diagnosis of MH susceptibility in the future.
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            Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency.

            Idiopathic inflammatory myopathies are a group of acquired, heterogeneous, systemic diseases commonly regarded as autoimmune disorders. Differential diagnosis includes muscular dystrophies, especially the dysferlin-deficiency myopathy. We report a case of a patient diagnosed with polymyositis and with associated autoimmune diseases that finally turned out to be a dysferlin deficiency (limb girdle muscular dystrophy type 2B). A possible link between dysferlin deficiency an autoimmunity is discussed.
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              Familial idiopathic hyper-CK-emia: an underrecognized condition.

              Persistent elevation of serum creatine kinase (CK) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia (IH). IH has been reported in rare families and was recently ascribed to caveolin-3 gene mutations. We retrospectively found that IH was familial in 13 of 28 subjects in whom serum CK was measured in relatives. These 13 families had a total of 41 subjects with IH, including six over 60 years of age. In eight families there was male-to-male transmission and a higher prevalence of males with hyperCKemia. Muscle biopsy in one member of all families was normal or showed minimal, nonspecific changes. Morphometric examination disclosed different patterns of changes in fiber size and distribution. Caveolin-3 expression was normal and in five families molecular genetics excluded caveolin-3 gene mutations. Our findings suggest that IH is familial in 46% of cases. Familial IH is a benign genetically heterogeneous condition that is autosomal-dominant in at least 60% of cases, with a higher penetrance in men.
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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                albacete
                Revista Clínica de Medicina de Familia
                Rev Clin Med Fam
                Sociedad Castellano-Manchega de Medicina de Familia y Comunitaria (Cuenca, Castilla La Mancha, Spain )
                1699-695X
                October 2009
                : 2
                : 8
                : 434-437
                Affiliations
                [02] Cuenca orgnameHospital Virgen de la Luz orgdiv1Servicio de Endocrinología
                [01] Cuenca orgnameHospital Virgen de la Luz orgdiv1Servicio de Urgencias
                [03] Cuenca orgnameHospital Virgen de la Luz orgdiv1Servicio de Análisis Clínicos
                Article
                S1699-695X2009000300009
                10.4321/s1699-695x2009000300009
                20129216-896d-4763-a13f-36aa327cabee

                This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 International License.

                History
                : 20 August 2009
                : 08 May 2009
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 10, Pages: 4
                Product

                SciELO Spain


                Enfermedad de Addison,Hipertermia Maligna,Creatincinasa,Addison Disease,Malignant Hyperthermia,Creatine Kinase

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