Mitochondrial ciwo yaro

Mitochondrial cuta, da kuma musamman mitochondrial ciwo, wanda za a iya bayyana CNS, zuciya da kuma kwarangwal tsoka munanan, suna daya daga cikin mafi muhimman sassa na neuropaediatrics.

Mitochondria - abin da yake da shi?

Yaya mutane da yawa tuna daga makaranta hanya na ilmin halitta, a mitochondrion ne daya daga cikin kwayoyin halitta wanda babban aiki ne da ilimi a cikin tsari na salon salula numfasawa kwayoyin na ATP. Bugu da ƙari, akwai auku hadawan abu da iskar shaka daga m acid faruwa tricarboxylic acid sake zagayowar da yawa wasu matakai. Nazarin gudanar a cikin marigayi XX karni, saukar da muhimmanci mitochondrial ma a tafiyar matakai kamar ji na ƙwarai to kwayoyi, cell senescence, apoptosis (kaddara cell mutuwa). Haka kuma, da take hakkin su ayyuka take kaiwa zuwa wani rashi na makamashi, da kuma a sakamakon, lalacewar da cell mutuwa. Sama-sama wadannan keta faruwa a cikin sel na cikin juyayi tsarin da kwarangwal tsokoki.

Mitohondriologiya

Halitta karatu sun ƙaddara cewa mitochondria suna da nasu genome, wasu fiye da genome na cell tsakiya, da kuma tafka magudi a cikin aiki ne mafi sau da yawa dangantaka da maye gurbi da ke faruwa a can. Duk wannan ya yarda ware kimiyya filin da cewa karatu da cutar dangantawa da tabarbarewa na mitochondria - mitochondrial tsitopatii. Suna iya zama ko dai harben ko nakasar, sun gaji a cikin uwa tasa ta gefe.

symptomatology

Mitochondrial ciwo za a iya bayyana a daban-daban adam tsarin, amma mafi alama manifestations shirya neurological bayyanar cututtuka. Wannan shi ne saboda cewa da juyayi nama mafi tsanani shafi ta hypoxia. Halayyar siffofin kyale ake zargin rauni mitochondrial ciwo a cikin kwarangwal tsokoki ne hypotonia, gazawar mayalwaci daure jiki aikinsa, daban-daban myopathy oftalmoparez (inna daga cikin ido tsokoki), ptosis. Daga cikin juyayi tsarin iya zama bugun jini-bayyananen, seizures, pyramidal cuta, a shafi tunanin mutum da cuta. Yawanci, mitochondrial ciwo a wani yaro ne ko da yaushe bayyana na cin gaba da bata lokaci ko asarar riga samu basira, psychomotor hanawa. Daga endocrine tsarin yana yiwuwa ci gaban da ciwon sukari, cuta na thyroid gland shine yake da pancreas, girma retardation, mafarki. cardiac raunuka iya ci gaba kan bango na pathologies na sauran gabobin, kuma kadaici. Mitochondrial ciwo a cikin wannan yanayin da ake nuna cardiomyopathy.

bincikowa da

Mitochondrial cutar mafi sau da yawa samu a cikin neonatal lokaci ko a cikin shekara ta farko da wani yaro ta rayuwa. A cewar kasashen waje karatu, wannan Pathology da aka cuta a wani jariri na 5000. Ga ganewar asali na bi wani m asibiti, kwayoyin, instrumental, biochemical da kwayoyin gwaje-gwaje. Don kwanan wata, akwai da hanyoyi da dama don gane da wannan Pathology.

1. Electromyography - tare da al'ada da sakamakon a kan wani bango na pronounced tsoka rauni, da mãsu haƙuri yale mu mu zargin mitochondrial Pathology.
2. Lactic acidosis sau da yawa tafiya tare mitochondrial cuta. Hakika, kawai da kasancewar shi ne kasa ga ganewar asali, amma ji na lactic acid a cikin jini bayan motsa jiki na iya zama sosai m.
3. Biopsies na kwarangwal tsoka da kuma histochemical nazari samu biopsy ne mafi m.
4. Good sakamakon nuna lokaci daya da yin amfani da haske da kuma electron bincike da madubin likita da kwarangwal tsokoki.

Mitochondrial encephalopathy (Leigh ciwo)

Daya daga cikin mafi m da cututtukan yara dangantawa da kwayoyin gyare-gyare na mitochondria ne Leigh cuta, da farko aka bayyana a cikin 1951. A farko bayyanar cututtuka bayyana tsakanin zamanai na daya zuwa shekara uku, amma akwai iya zama wani a baya bayyanuwar - watan farko na rayuwa, ko, a maimakon haka, bayan shekaru bakwai. A farko manifestations ne zuwa jinkirta ci gaba, rage a jiki nauyi, asarar ci, amai retransmission. A tsawon lokaci, shiga neurological cututtuka - wani take hakkin tsoka sautin (hypotonia, dystonia, hypertonia), convulsions, asarar daidaituwa.

Haka kuma cutar rinjayar da gabobin da hangen nesa: tasowa atrophy na na gani jijiya, retinal degeneration, ido motsi cuta. A mafi yara da cutar sannu a hankali progresses, da girma daga ãyõyin pyramidal cuta bayyana hadiya cuta, numfashi aiki.

Daya daga cikin yara fama da wannan Pathology, ya zama Pugachev Yefim, mitochondrial ciwo, wanda aka gane a 2014. Uwarsa, Helen, ya tambaye ga taimako daga duk damu mutane.

Mitochondrial ciwo yaro

Forecast, da rashin alheri, mafi sau da yawa m zuwa ranar. Wannan shi ne saboda marigayi ganewar asali daga cutar, da rashin cikakken bayani a kan pathogenesis, da dire jihar na marasa lafiya a hade da multisystem hannu, kuma tare da rashin wata guda rarrabẽwa ga kimantawa da tasiri na far.

Saboda haka, lura da irin cututtuka ne har yanzu a ci gaba mataki. Kamar yadda mai mulkin, shi ne rage zuwa symptomatic da kuma taimaka far.