Mene ne Kearns-Sayre ciwo?

An sani cewa da yawa nakasar munanan aka gano tare da ci gaban da itatuwa aure. chromosomal canji zai iya sa wani iri-iri munanan. Wasu daga cikin su ne bayyane nan da nan bayan haihuwa, yayin da wasu bayyana kansu a cikin shimfiɗar jariri ko ƙarfinsa. Kearns-Sayre ciwo tana nufin wani Pathology na mitochondrial DNA. Yana hadawa 3 alama, da dangantakar dake tsakanin su da aka ba gano har karshen karni na 20th. Mitochondrial cuta - wani babban rukuni na kwayoyin munanan, sa a cikin utero da kuma daukar kwayar cutar ta hanyar da masu juna biyu line. Wannan irin abnormality aka gano godiya ga ci gaban itatuwa aure.

Kearns-Sayre ciwo: description

Cuta mitochondrial DNA da ake nufi cuta da nama numfasawa, wanda yana da za'ayi a wata biochemical matakin. A sakamakon haka, da bayyanar cututtuka da wadannan pathologies iya zama daban-daban. Kearns-Sayre ciwo tana nufin wani rukuni na mitochondrial cututtuka, wanda ya unsa shafewa na chromosomes. An farko aka bayyana a cikin shekarar 1958. Yayin da masanin kimiyyar Cairns sa a kawai 9 misalai daga cuta. Babban bayyanar cututtuka da wannan cuta - wani m ophthalmoplegia, retinopathy da intracardiac kawancen. Haka kuma cutar na faruwa a tare da daidaita mita a duka biyu maza da mata. Duk da haka dako lalace chromosomes iya zama wata mace. Wannan Pathology tana nufin wani sosai rare anomaly, a halin yanzu rubuce game da 200 lokuta a dukan duniya.

Dalilan ciwo Kearns-Sayre

Kamar yadda da dukan mitochondrial cututtuka, da ciwo da aka yi karatu ba haka ba da dadewa. Saboda haka, daidai Sanadin ta ci gaba da ba su sani. An yi imani da cewa anomaly aka kafa a farko trimester na ciki a lokacin da akwai da aka aza tsokoki da kuma kayyade abu gada daga iyaye. Cutar da ake tushen shafewa na chromosome, Ina nufin asarar ta rabo daga DNA tufka. Bugu da kari, wasu marasa lafiya da kwafi (anya) D-madauki. Data dako na kwayoyin gyare-gyare iya zama kawai mata. Wannan shi ne saboda mitochondrial sarkar, akwai kawai wani bangare na qwai. Duk da haka, ba shi yiwuwa domin sanin daidai da abin da triggers da shafewa na chromosomes. Kamar dukan nakasar pathologies, cututtuka hade tare da daukan hotuna zuwa muhalli hadura. Wadannan sun hada da danniya, dandana a watan farko na ciki, da sinadaran guba, shan taba, shan barasa, da kuma samun kwayoyi.

The asibiti hoto da cutar

Kearns-Sayre ciwo ne halin da uku classic bayyanar cututtuka. Daga cikin su:

1. Progressive ophthalmoplegia. Yana tasowa saboda halakar da wasu tsokoki, wanda ke da alhakin da motsi na da eyeball kuma babba fatar ido. Saboda wannan dalili, akwai wani alama - gefe ptosis. Mafi sau da yawa, wannan ne na farko alamar wani sakamako. Daga baya ya fara mamaki tsokoki a kan sauran ido. A hankali, saboda ptosis da ophthalmoplegia duba more rage, da kuma mutum yana da tanƙwara žasa ko don jẽfar da kansa ya gani.
2. Pigmentary retinopathy. Wannan alama ne halin da bayyanar spots a kan haske a jikin. Idan ka bincika ido cibiyar (kasa) da taimako na musamman na'ura, za ka iya ganin kowa pigmentation. A bambanci, retinitis, mafi fentin cibiyar - da macula. A sakamakon pigmentation a wasu marasa lafiya akwai wani alama na "dare makanta", da kuma rage gani acuity.
3. Intracardiac kawancen. Wannan yanayin da aka ɓullo da daga baya fiye da wasu. A mafi yawan lokuta, da watsin karya a cikin AV kumburi, wanda aka halin bradycardia, gajiya da danniya rashin ha} uri. Idan aji 3 kawancen iya bayyana seizures da kuma rufe da mãgãgi.

Bincike da sharudda ga ciwo Kearns-Sayre

ciwo Kearns-Sayre ganewar asali ne dangane da asibiti da kuma awon kuma instrumental data. Haka kuma cutar tasowa a cikin yara, ko matasa (a karkashin shekaru 20), kuma yana da m hanya. Bugu da kari ga classic cututtuka, akwai iya zama wasu bayyananen cuta. Daga cikin su: cerebellar ataxia, wani nauyi, rauni na gyara man fuska tsokoki, a rage m. Instrumental Nazarin, da ake bukata domin wannan ciwo: ECG da EhoKS, ophthalmoscopy. Don yin wani cikakken ganewar asali, kana bukatar ka gama an ophthalmologist, likitan zuciyar da itatuwa aure.

Jiyya na ciwo Kearns-Sayre

Don kwanan wata, an da ake ci gaba etiological lura da wannan cuta. Wasu nazarin bayyana tasiri na da miyagun ƙwayoyi "Coenzyme Q10», wanda ya koma daidai da matakin na lactic da pyruvic acid. All marasa lafiya fama da ciwo Kearns-Sayre dole symptomatic magani. M shi ne da nufin kawar da zuciya block. Lokacin da bradycardia prescribers "atropine" idan akwai convulsions - miyagun ƙwayoyi "Diazepam". A mafi yawan lokuta, da mãsu haƙuri yana bukatar na'urar bugun zuciya. Domin lura da ptosis, ophthalmoplegia da pigmentary retinopathy dole tiyata.