Помогите английской маме, её сыну 1год1мес поставили диагноз Leigh's disease или Болезнь ЛИ, он сейчас в больнице.
английские врачи не знают как лечить(мама просто отчаилась), может есть в России клиникачтоб обследовать ребёнка, я бы могла с ней приехать и что это за болезнь можно ли от неё вылечиться. Потому что когда посмотрела я по интэрнету про эту болезнь оказывается дети не доживают до 7 лет и умирают. Она уже не надеется на английских врачей потому что они ни чего не знают, а верит в то что в России ей помогут. её слова(русские помогите моему ребёнку) пожалуйста
The pathologic hallmarks are bilateral, symmetric necrotizing lesions with spongy changes and microcysts in the basal ganglia, thalamus, brainstem, and spinal cord. The mammary bodies are spared. Magnetic resonance imaging shows shows abnormal white matter signal in the putamen, basal ganglia, and brain stem with T2 images.
Pathogenesis — The phenotype of Leigh syndrome appears to be related to altered mitochondrial metabolism. Alterations in the mitochondrial respiratory chain complex I [146- 148], pyruvate dehydrogenase complex (PDHC) [149- 151] or in mitochondrial DNA (mtDNA) [143, 149, 151] have been associated with autosomal, X- linked, or mtDNA mutations (maternally- inherited Leigh syndrome). A deficiency in cytochrome c oxidase (COX), the fourth multisubunit complex of the respiratory chain, is a common finding that is inherited as an autosomal recessive trait [151, 152].
The relative frequency of these abnormalities was assessed in a study of 100 Japanese patients with a clinical diagnosis of Leigh syndrome [151]. Enzymatic defects were found in 21 patients: 15 involved COX and four involved PDH. In addition, mtDNA mutations in the ATPase 6 coding region occurred in 18 patients; different point mutations were associated with different clinical courses.
Despite the frequency of COX deficiency, no mutations of the nuclear encoded COX subunit genes have been found [153]. However, mutations of SURF1, a gene located on chromosome 9q34, have been identified in many COX- deficient patients with Leigh syndrome [154- 156]. In one series, loss of function SURF- 1 mutations were found in 18 of 24 (75 percent) patients with COX deficiency [155].
Another nuclear gene that causes COX deficiency was identified through genetic linkage analysis of a consanguineous African family with an isolated COX defect [157]. The gene is located on chromosome 17p13. 1- q11. 1, a region that encompasses two genes that encode proteins involved in COX assembly: SCO1 and COX10. The COX10 gene encodes heme A: farnesyltransferase, which catalyzes the first step in the conversion of protoheme to the heme A prosthetic groups. SCO1 is thought to be involved in mitochondrial copper transport to COX [158].
К сожалению огромное большинство генетических болезней пока неизлечимы как ж Англии так и во всем мире, включая Россию