Mitokondrial sitopatiler

Abstract

Mitokondrial sitopatiler yaşamın herhangi bir döneminde çok değişken klinik belirtilerle seyreden heterojen bir grup hastalıklar. Hastalıkta özellikle merkezi sinir sistemi ve iskelet kası tutulumu yanı sıra kalp, karaciğer . böbrek, endokrin, hematopoetik sistem gibi diğer organ ve sistemler de tutulur. Merkez sinir sistemi ve iskelet kasların özellikle tutulması as ağrı mitokondriyal miyopatiler mitokondriyal ensefalo miyopatiler adını da almasına neden olmuştur. Hastalığın tanısı morfolojik ve biyokimyasal testler ve nadiren klinik bulgular konur.

The mitochondrial cytopathies are a heterogeneous group of disorders characterized by a wide range of clinical presentations. Onset of these disorders may occur at any time of life. The clinical presentation is variable and the symptoms are often nonspecific and or many organs can be affected. They may feel the central nervous system, skeletal muscle or both and they may also involve other organs, including the cardiac muscle, liver, and kidney. Nervous system and skeletal muscle seem to be especially vulnerable. Mitochondrial myopathies that affect both skeletal muscle and the brain are termed mitochondrial encephalomyopathies. The diagnosis is based mainly on abnormalities found during morphologic and biochemical investigations of the skeletal muscle. and rarely on clinical findings alone.