Ahụ ike, Ọrịa na ọnọdụ

Mitochondrial syndrome nwa

Mitochondrial ọrịa, na karịsịa mitochondrial syndrome, nke pụrụ igosipụta CNS, obi na skeletal muscle abnormalities, bụ otu n'ime ndị kasị mkpa akụkụ nke neuropaediatrics.

Mitochondria - ihe ọ bụ?

Olee otú ọtụtụ ndị mmadụ na-echeta si ụlọ akwụkwọ N'ezie nke bayoloji, a mitochondrion bụ otu n'ime cell organelles onye isi ọrụ bụ agụmakwụkwọ na usoro nke cellular respiration ụmụ irighiri nke ATP. Ọzọkwa, e nwere pụtara ọxịdashọn nke ọdụdụ asịd na-ewe ebe tricarboxylic acid okirikiri na ọtụtụ ndị ọzọ na usoro. Studies ekenịmde ke mbubreyo XX narị afọ, kpughere oké mkpa mitochondrial na-na Filiks dị ka uche na ọgwụ ọjọọ, cell senescence, apoptosis (na odi). Ntem, ndị mebiri nke ha ọrụ na-eduga ná a erughi nke ume, na dị ka a N'ihi ya, mmebi na cell ọnwụ. N'ụzọ doro anya ndị a imebi-erukwa na mkpụrụ ndụ nke ụjọ usoro na skeletal uru.

Mitohondriologiya

Genetic ọmụmụ kpebiri na mitochondria nwere onwe ha genome, ndị ọzọ karịa nke genome nke cell ntọala, na ụfọdụ n'ime ya ịrụ ọrụ na-kasị-ejikọta ya na mmụba e mere na. All a kwere ka igbunye ngalaba sayensị na-amụ ọrịa metụtara na dysfunction nke mitochondria - mitochondrial tsitopatii. Ha nwere ike ịbụ ma sporadik ma ọ bụ congenital, ketara na nne-ya n'akụkụ.

symptomatology

Mitochondrial ọrịa na-egosipụta dị iche iche ụmụ mmadụ na usoro, ma ihe kasị akara ngosipụta kwadebere akwara ozi mgbaàmà. Nke a bụ n'ihi na eziokwu na ụjọ na-atụ anụ ahụ nke ukwuu na-emetụta hypoxia. E ji mara atụmatụ ikwe na-enyo enyo lesion mitochondrial syndrome na skeletal uru bụ hypotonia, mîkayarakede ọma ịtachi obi anụ ahụ exertion, iche iche myopathy oftalmoparez (mkpọnwụ anya uru), ptosis. Site ụjọ usoro nwere ike ịbụ ọrịa strok-ngosipụta, ọdụdọ, pyramidal aghara, a echiche-aghasa. A, mitochondrial syndrome na a na nwa na-mgbe na-egosipụta na otito na-egbu oge ma ọ bụ ọnwụ nke na-ama enwetara nkà, psychomotor impairment. Site endocrine usoro ọ bụ omume na mmepe nke-arịa ọrịa shuga, ọrịa nke thyroid gland na pancreas, ibu iberibe,-eto eto. gbasara obi ọnya nwere ike ịzụlite megide ndabere nke pathologies nke ndị ọzọ na akụkụ, na-akpa iche. Mitochondrial syndrome na nke a na-egosi cardiomyopathy.

nchọpụta nsogbu

Mitochondrial ọrịa esiwak hụrụ na ndị neonatal oge ma ọ bụ na mbụ afọ nke a ndụ nwa. Dị ka ndị mba ọzọ amụ ihe, nke a daa ọrịa na-chọpụtara na a mụrụ nwa ọhụrụ nke 5000. Maka nchoputa nke-achụ a mbara adakarị, mkpụrụ ndụ ihe nketa, instrumental, Biochemical na molekụla ule. Iji ụbọchị, e nwere ọtụtụ ụzọ mata nke a daa ọrịa.

Electromyography - na nkịtị na-arụpụta na a ndabere nke akpọ muscle adịghị ike, ọrịa na-enye ohere ka anyị na-na-enyo mitochondrial daa ọrịa.
Lactic acidosis mgbe esokwa mitochondrial ọrịa. N'ezie, naanị ya ọnụnọ bụ ezughi oke maka nchoputa, ma n'ihe nke lactic acid na ọbara mgbe ihe omumu nwere ike ịbụ nnọọ ihe ọmụma.
Biopsies nke skeletal muscle na histochemical ọmụmụ nwetara biopsy bụ ihe kasị ihe ọmụma.
Arụpụta ezi na-egosi na nke imekotaotuugbo ojiji nke ìhè na elektrọn Microscopy nke skeletal uru.

Mitochondrial encephalopathy (Leigh syndrome)

Otu n'ime ndị kasị ugboro ugboro nwata ọrịa metụtara na mkpụrụ ndụ ihe nketa alterations nke mitochondria bụ Leigh ọrịa, mbụ kọwara na 1951. The mbụ mgbaàmà na-egosi ndị nọ n'agbata afọ otu afọ atọ, ma e nwere ike ịbụ ihe mbụ ediyarade - ọnwa mbụ nke ndụ, ma ọ bụ, na Kama nke ahụ, mgbe afọ asaa. The mbụ ngosipụta ndị na-egbu oge mmepe, ibelata na ahu arọ, ọnwụ nke agụụ, vomiting retransmission. N'ime oge ahụ, enyekwara akwara ozi mgbaàmà - a mebiri nke Akwara ụda (hypotonia, dystonia, hypertonia), ụfụ, ọnwụ nke nchikota.

The ọrịa na-emetụta akụkụ nke ọhụụ: emepe atrophy nke optic akwara, retinal mbelata, anya ije ọrịa. Na ọtụtụ ụmụaka ọrịa ji nwayọọ nwayọọ na-aga n'ihu, na-eto eto ihe ịrịba ama nke pyramidal ọrịa apụta ilo ọrịa, akụkụ okuku ume na ọrụ.

Otu n'ime ụmụ ata ahụhụ site na a daa ọrịa, ghọrọ Pugachev Yefim, mitochondrial syndrome, nke a chọpụtara na 2014. Nne-ya, Helen, jụọ maka enyemaka si na niile na-echegbu ndị mmadụ.