Kodi mwana wanu ali ndi zizindikiro izi? Kodi tiyenera kudziwa za Kearns-Sayre Syndrome?

Kodi mwana wanu nthawi zina amaonetsa zizindikiro zachilendo zomwe simukuzimvetsa? Mwina mwaonapo china chake monga kutaya masomphenya, kusintha pang'ono poyenda, kapena kumva kufooka m'thupi lanu? Ndiye ichi ndi chinthu chomwe chingakhale chofunikira kwambiri kwa inu. Nthawi zina izi zitha kukhala zizindikiro za matenda osowa kwambiri, koma oyenera kudziwa. Lero tikambirana za vuto limodzi lotere, lomwe limatchedwa Kearns-Sayre Syndrome.

Kodi Kearns-Sayre Syndrome ndi chiyani?

Mwachidule, matenda a Kearns-Sayre ndi matenda osowa kwambiri omwe amakhudza dongosolo la mitsempha ndi minofu. Amatchedwanso ``KSS'' mwachidule. Amakhudza makamaka maso. Amathanso kukhudza mtima, minofu, ndi ntchito za ubongo monga kuganiza ndi kukumbukira. Nthawi zambiri, zizindikirozi zimayamba kuonekera munthu asanakwanitse zaka 20 .

Ili ndi `(matenda a mitochondrial)` zomwe zikutanthauza kuti vutoli limayamba chifukwa cha vuto la ziwalo zazing'ono zotchedwa mitochondria mkati mwa maselo athu. Mwatsoka, palibe mankhwala athunthu a izi pakadali pano. Komabe, kuzindikirika msanga ndi chithandizo choyenera kungathandize kuwongolera zizindikiro ndikusunga moyo wabwino. Matendawa adapezeka koyamba mu 1958 ndi madokotala awiri otchedwa Thomas P. Kearns ndi George Pomeroy Sayer. Ichi ndichifukwa chake adatchedwa dzinali. Ndi vuto lomwe limakula pang'onopang'ono pakapita nthawi.

Tiyeni tiphunzire pang'ono za mitochondria, yomwe imapatsa matupi athu mphamvu.

Tsopano mwina mukudabwa kuti mitochondria imeneyi ndi chiyani komanso chifukwa chake ndi yofunika kwambiri. Taganizirani izi, mitochondria ili ngati mafakitale ang'onoang'ono amphamvu m'selo iliyonse m'thupi lathu (kupatula maselo ofiira a magazi). Monga mafuta m'galimoto, 90% ya mphamvu zomwe thupi lathu limafuna kuti ligwire ntchito zimapangidwa mu mitochondria iyi. Mafakitale ang'onoang'ono awa amatenga michere kuchokera muzakudya zomwe timadya, amagwiritsa ntchito mpweya, ndikuzisandutsa mphamvu zomwe maselo athu angagwiritse ntchito.

Ndiye, taganizirani zomwe zimachitika ngati mitochondria izi sizikugwira ntchito bwino, kapena ngati zawonongeka? Kenako thupi lathu silikupeza mphamvu zomwe limafuna. Izi zimapangitsa kuti magwiridwe antchito osiyanasiyana m'thupi, kutanthauza maselo, minofu, ndi ziwalo, azisokonekera. Matenda a mitochondria ndi ovuta kuwazindikira ndikuwachiza, chifukwa amakhudza ziwalo zambiri za thupi, osati chimodzi chokha. Ngakhale zizindikiro za matendawa zimatha kusiyana kuchokera kwa munthu ndi munthu, nthawi zambiri zimakula pakapita nthawi. Makamaka, minofu ndi maselo amitsempha, omwe amafunikira mphamvu zambiri, ndi omwe amawonongeka kwambiri.

Kodi zizindikiro za vutoli zingakhale zotani?

Zizindikiro za matenda a Kearns-Sayer (KSS) nthawi zambiri zimayamba munthu asanakwanitse zaka 20 , ndipo nthawi zambiri zimakhudza maso onse awiri. Pakapita nthawi, izi nthawi zina zingayambitse khungu.

Zizindikiro zoyambirira zomwe zimakhudza maso:

• Kutaya masomphenya: Kuona kumachepa, makamaka m'malo amdima, monga usiku. Izi zimachitika chifukwa cha kuwonongeka kwa retina ya diso. Malinga ndi zamankhwala, izi zimatchedwa `(pigmentary retinopathy)`.
• Makope opindika: Makope apamwamba a diso limodzi kapena onse awiri amapindika mosalamulirika. Izi zimatchedwa `(ptosis)`.
• Kufooka kapena kusagwira bwino ntchito kwa minofu ya maso: Minofu yomwe imagwiritsidwa ntchito poyendetsa maso imafooka pang'onopang'ono. Izi zimatchedwa ``chronic progressive external ophthalmoplegia (CPEO)``. Izi nthawi zina zimapangitsa kuti zikhale zosatheka kutembenuza maso onse awiri mbali imodzi.

Zizindikiro zina kupatula maso:

Vutoli silikhudza maso okha ayi, lingakhudze ziwalo zina zambiri za thupi.

• Kutaya kumva (Kusamva): Kutaya kumva kumachepa pang'onopang'ono, ndipo mwina mungasiye kumva konse.
• Kulephera kuzindikira kapena kulephera kukumbukira (dementia): Zimakhala zovuta kuganiza, kumvetsetsa, ndi kuphunzira. Nthawi zina, kutayika kukumbukira kumatha kuchitika pang'onopang'ono.
• Matenda a Mtima: Mavuto a mtima amatha kuchitika chifukwa cha kutsekeka kwa zizindikiro zamagetsi za mtima. Izi zitha kukhala zoopsa kwambiri.
• Kusalingana kwa mahomoni (kusakhazikika kwa endocrine): Mwachitsanzo, matenda a shuga amatha kuchitika. Mavuto ena okhudzana ndi mahomoni amathanso kuchitika.
• Kuwonjezeka kwa mapuloteni mu madzi a m'mitsempha ya ubongo (CSF): Izi zimazindikirika pochita kupopera msana.
• Mavuto a impso.
• Mavuto oyenda ndi kukhazikika (ataxia): Kutaya kukhazikika, kupunthwa poyenda, komanso kulephera kugwirizana bwino.
• Kugwidwa ndi khunyu: Izi zimachitika kawirikawiri.
• Kutalika: Kusakula kuposa nthawi zonse.
• Kufooka m'manja ndi miyendo: Miyendo imamva ngati yopanda moyo, ndipo minofu imafooka.

Tangoganizani kuti mwana wanu anali kusewera kwambiri, kuthamangathamanga ndikusewera. Koma posachedwapa, akunena kuti satha kuona bwino usiku, amavutika kuyang'ana kwambiri ntchito za kusukulu, ndipo samva mphamvu monga momwe ankamvera akamayenda. Ngati izi zitachitika, chofunika kwambiri ndikupempha upangiri kwa dokotala popanda kunyalanyaza.

N’chifukwa chiyani vuto losowa chonchi limachitika?

Matenda a Kearns-Sayer (KSS) amayamba chifukwa cha kusintha kwa majini mu DNA mu mitochondria, kapena mitochondrial DNA (mtDNA) . MtDNA iyi ndi gawo la selo lomwe limanyamula majini ofunikira kuti mitochondria igwire bwino ntchito. Komabe, ofufuza sakudziwabe chifukwa chake kusintha kwa majini kumeneku kumachitika.

Chofunika kwambiri ndichakuti, ichi si vuto la amayi kapena abambo.Nthawi zambiri, kusintha kwa majini kumeneku kumachitika mwana akadali kukula m'mimba. Nthawi zina, kumapatsirana kuchokera kwa mayi kupita kwa mwana (cholowa cha amayi), koma vutoli likhoza kuchitikanso popanda mbiri ya banja. Kuyezetsa majini kungathandize kudziwa ngati kusintha kwa majini ndi kwachibadwa kapena kwachitika mwangozi.

Kodi mumazindikira bwanji izi molondola?

Ndipotu, matenda a Kearns-Sayer Syndrome (KSS) angakhale ovuta kuwazindikira chifukwa amakhudza ziwalo zosiyanasiyana za thupi. Mungazindikire zizindikiro zachilendo mwa inu nokha kapena mwana wanu. Kapena dokotala angazindikire zizindikirozi panthawi yoyezetsa dokotala nthawi zonse. Komabe, ngati muwona chimodzi mwa zizindikirozi, ndi bwino kuonana ndi dokotala nthawi yomweyo.

Madokotala amachita izi kuti adziwe vuto la ``(KSS)``:

• Tidzamvetsera mosamala mbiri yanu yachipatala ndi zizindikiro zake.
• Kuyezetsa thupi lonse kumachitika.
• Mayeso ena: Mayeso a mkodzo, mayeso a maso, mayeso a kumva, mayeso a magazi, komanso mwina kubowola kwa msana/kutulutsa lumbar kungachitike.
• Uphungu wa majini ndi kuyezetsa majini: Izi nthawi zambiri zimachitika ndi magazi.

Kuphatikiza apo, dokotala wanu angatenge chidutswa chaching'ono cha minofu yanu ndikuchiyang'ana (biopsy ya minofu) . Izi zidzafuna china chake chotchedwa "ulusi wofiira kwambiri." Ngati izi zilipo, zikutanthauza kuti maselo a minofu ndi osazolowereka chifukwa cha matenda a mitochondrial.

Mayeso ojambula zithunzi ngati awa angachitikenso kuti athetse matenda ena:

• `CT scan`
• Electroencephalogram (EEG) (mayeso oyesa ntchito yamagetsi ya ubongo)
• Electroretinogram (ERG) (mayeso omwe amayesa ntchito ya retina)
• `MRI` kapena `spectroscopy (MRS)`

Kuzindikira matendawa msanga n'kofunika kwambiri kuti chithandizo chikhale chopambana. Inu ndi mwana wanu mudzapeza chithandizo choyenera pokhapokha mutazindikira matendawa molondola.

Kodi pali mankhwala a izi? Kodi zimathandizidwa bwanji?

Mwatsoka, palibe mankhwala a Kearns-Sayer Syndrome (KSS). Koma musadandaule. Kuzindikira msanga matendawa ndi chithandizo chothandizira kungathandize kuchepetsa chiopsezo cha mavuto. Dokotala wanu angakulangizeni mankhwala omwe angakuthandizeni inu ndi mwana wanu kuthana ndi zizindikiro zake ndikukweza moyo wawo.

Thandizo kuchokera ku gulu la madokotala apadera

Popeza vutoli limakhudza ziwalo zambiri za thupi, limafuna thandizo la gulu la madokotala odziwa bwino ntchito zosiyanasiyana. Gulu lanu la chithandizo likhoza kuphatikizapo:

• Dokotala wa maso
• Katswiri wa kumva `(katswiri wa zakumva)`
• Katswiri wa mtima
• Katswiri wa Endocrinologist
• Katswiri wa majini
• Katswiri wa za ubongo
• Katswiri wa zamaganizo kapena katswiri wa zamaganizo
• Katswiri wa zaumoyo wamaganizo (monga `neuropsychiatrist`)

Kodi mankhwala ake ndi otani?

Cholinga chachikulu cha chithandizo ndikuwongolera zizindikiro ndikuchepetsa mavuto omwe angachitike pamene vutoli likuipiraipira pang'onopang'ono.

• Kuchiza thupi ndi chithandizo cha ntchito: Izi zimathandiza kusunga mgwirizano, mphamvu, komanso kulinganiza bwino zinthu. Zimathandizanso kuti mugwire ntchito za tsiku ndi tsiku nokha.
• Mankhwala: Dokotala wanu angakupatseni mankhwala a matenda a mtima, mavuto a mahomoni, kapena zizindikiro zamaganizo (monga kuvutika maganizo).

Komanso, dokotala angakulimbikitseni zinthu monga:

• Zipangizo zothandizira kumva kapena zoyikamo za cochlear (ngati anthu ena akufunika)
• Opaleshoni yochotsa maso a zikope kapena ya blepharoplasty ingathandize kuti maso akhale otseguka pamene maso a zikope agwa.
• Kupatsidwa folic acid ngati mulingo wa folate mu cerebrospinal fluid (CSF) uli wochepa.
• Chithandizo chobwezeretsa mahomoni chifukwa cha kusowa kwa mahomoni.
• Insulin kapena mankhwala ena a matenda a shuga.
• Kuika pacemaker ngati pali zovuta zomwe zingawononge moyo pa zizindikiro zamagetsi za mtima.

Kuyang'aniridwa ndi dokotala nthawi zonse n'kofunika kwa munthu amene ali ndi matenda a (KSS) chifukwa zizindikiro zatsopano zingawonekere pakapita nthawi pamene ziwalo zosiyanasiyana za thupi zimataya ntchito. Lankhulani ndi dokotala wanu nthawi zonse za njira zomwe zingakuthandizeni kukhala ndi thanzi labwino momwe mungathere, kwa nthawi yayitali momwe mungathere.

Kodi moyo uli bwanji ndi vutoli? Kodi tsogolo lidzakhala lotani?

Chiyembekezo cha munthu amene ali ndi matenda a Kearns-Sayer (KSS) chimadalira kuopsa kwa zizindikiro zake. Komabe, anthu ambiri amakhala ndi vutoli kwa zaka zambiri. Mankhwala othandizira angakuthandizeni inu ndi mwana wanu kukhala ndi moyo wautali komanso wathanzi. Musataye mtima.

Pomaliza, zinthu zofunika kwambiri kukumbukira

Chabwino, kuchokera pa zomwe takambirana, ndikukhulupirira kuti mwapeza chidziwitso cha Kearns-Sayre Syndrome. Ndi vuto lovuta komanso losowa. Koma kumbukirani:

• Kuzindikira msanga n'kofunika kwambiri. Ngati muli ndi zizindikiro zachilendo, makamaka ngati zimayamba muli aang'ono, monga kufooka kwa maso, mtima, kapena minofu, musazengereze kufunafuna upangiri wa dokotala.
• Ichi ndi vuto la majini, si vuto la wina aliyense. Choncho musadziimbe mlandu.
• Ngakhale kuti palibe mankhwala athunthu a izi, pali mankhwala ambiri omwe angathandize kuthana ndi zizindikiro ndikukweza moyo wabwino .
• Gwirani ntchito ndi gulu la madokotala apadera kuti mupange dongosolo la chithandizo. Nthawi zonse tsatirani malangizo a dokotala wanu.
• Ngakhale kuti izi ndi zovuta, simuli nokha. Ndi chithandizo ndi chidziwitso choyenera, mutha kupirira izi.

Ngati inu kapena munthu amene mumamudziwa ali ndi vutoli, ndikukhulupirira kuti izi ziwathandizanso. Khalani ndi chidziwitso, khalani ndi thanzi labwino!

Matenda a Kearns-Sayre, mitochondria, kusintha kwa majini, matenda a maso, matenda a mtima, kufooka kwa minofu, matenda a mitsempha