Lero tikambirana za matenda osowa omwe makolo ambiri sanamvepo, koma omwe amakhudza ana. Amatchedwa (Infantile Neuroaxonal Dystrophy) kapena (INAD) mwachidule. Ngakhale dzinali lingamveke ngati loopsa pang'ono, ndikofunikira kwambiri kudziwa za matendawa. Chifukwa ngati muwona kusintha kulikonse mwa mwana wanu, muyenera kufunsa upangiri wachipatala nthawi yomweyo.
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Kodi (Infantile Neuroaxonal Dystrophy - INAD) ndi chiyani? Tiyeni timvetse mosavuta!
Mwachidule, (INAD) ndi matenda osowa kwambiri, obadwa nawo omwe amakhudza dongosolo lathu la mitsempha. Chomwe chimachitika pamenepa ndi chakuti mtundu wina wa mafuta, wotchedwa (lipids), umasonkhana m'maselo a mitsempha mosafunikira. Taganizirani izi ngati zingwe zomwe zimanyamula mauthenga m'matupi athu. Mafuta akamasonkhana m'zingwezi, mauthenga amenewo samayenda bwino.
Kodi chimachitika n’chiyani kenako?
Izi pang'onopang'ono zimapangitsa kuti mwana asamayende bwino minofu , asaone bwino , azivutika kulankhula , komanso azivutika kukula bwino m'maganizo . Nthawi zambiri, zizindikirozi zimawonekera ali mwana (asanakwanitse zaka zitatu). Komabe, nthawi zina zizindikirozi zimatha kuonekera patapita nthawi, kutanthauza kuti ali paunyamata.
Uwu ndi matenda omwe ali m'gulu la (matenda osungira mafuta m'thupi). Ndiko kuti, vuto lomwe limachitika chifukwa cha kusungidwa kwa mafuta m'thupi. Mwatsoka, palibe mankhwala athunthu a matenda oopsa awa otchedwa (INAD).
Kodi (Matenda osungira mafuta m'thupi) ndi chiyani?
Matenda osungira mafuta m'thupi ndi gulu la matenda omwe ali m'gulu la matenda obadwa nawo a kagayidwe kachakudya. Mwachidule, amakhudza kagayidwe kathu kachakudya, njira yomwe timasinthira chakudya chomwe timadya kukhala mphamvu ndikuchotsa zinyalala m'matupi athu.
Ma lipid ndi zinthu zamafuta zomwe zimapezeka m'maselo athu, makamaka mu sheath ya myelin yomwe imaphimba mitsempha muubongo ndi msana. Ndi zofunika kwambiri pa dongosolo lathu la mitsempha . Anthu omwe ali ndi vuto losunga mafuta m'thupi amakhala ndi mafuta awa m'thupi lawo m'malo mogwiritsidwa ntchito moyenera.
Matenda osungira mafuta m'thupi monga INAD ndi matenda opitirira muyeso . Izi zikutanthauza kuti, pamene mafuta akuchulukana m'thupi, zizindikiro zake zimakula pang'onopang'ono.
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View Clinical Details →Kodi dzina lakuti "Infantile Neuroaxonal Dystrophy" limatanthauza chiyani?
Kumvetsa mawu omwe ali m'dzina ili kungathandize kumveketsa bwino matendawa:
- Makanda: (INAD) ndi vuto lomwe limapezeka pobadwa ((matenda obadwa nawo)). Zizindikiro nthawi zambiri zimawonekera ali akhanda, asanakwanitse zaka zitatu.
- Neuroaxonal: Matendawa amakhudza ma axon a maselo a mitsempha. Ma axon awa amanyamula mauthenga ochokera ku ubongo kupita ku ziwalo zina za thupi.
- Dystrophy: "Dystrophy" ndi dzina lachipatala la kufooka ndi kuwonongeka pang'onopang'ono kwa minofu, ziwalo, ndi minofu.
Kodi mayina ena a (INAD) ndi ati?
Madokotala ena amatchanso matendawa kuti "matenda a Seitelberger," potengera dokotala amene anayamba kufotokoza matendawa m'zaka za m'ma 1950. Angatchedwenso kuti (PLA2G6-associated neurodegeneration) kapena (PLAN).
Kodi mitundu ikuluikulu ya (INAD) ndi iti?
Matenda a ana aang'ono otchedwa neuroaxonal dystrophy ndi omwe amapezeka kwambiri m'matendawa. Madokotala amatchanso kuti ndi mtundu wakale wa INAD. Monga momwe dzinalo likusonyezera, zizindikiro zimayamba ali aang'ono.
Pali mtundu wina, wotchedwa (atypical INAD (aNAD). Pankhaniyi, zizindikiro zimawonekera pafupifupi zaka 4, nthawi zina ngakhale pambuyo pake, akakula. Ana awa akhoza kukhala ndi vuto lochedwa kulankhula , kapena angawonekere kuti ali ndi (autism spectrum disorder). Mtundu uwu wa matenda ndi wocheperako.
Kodi (INAD) ndi yofala bwanji?
Uwu ndi matenda osowa kwambiri , omwe amakhudza mwana m'modzi mwa ana 100,000 mpaka 2,000,000.
Kodi chifukwa cha kupangidwa kwa (INAD) n'chiyani?
Ana omwe ali ndi (INAD) amalandira kusintha ) mu jini (PLA2G6) kuchokera kwa makolo onse awiri. Jini iyi imathandiza kupanga (enzyme) (mtundu wa puloteni) yotchedwa (A2 phospholipase). (enzyme) iyi imaphwanya mtundu wa mafuta wotchedwa (phospholipids). Mafuta akagwiritsidwa ntchito bwino, maselo amitsempha amakhala athanzi.
Mwa ana omwe ali ndi (INAD), jini yosinthika iyi ya (PLA2G6) imasokoneza kupanga ndi kugwira ntchito kwa (enzyme) imeneyo. Kenako, zinthu zozungulira zotchedwa (mabodi ozungulira) zimayamba kukhazikika mu mitsempha. Izi nthawi zambiri zimakhazikika kumapeto kwa mitsempha yomwe imalumikizana ndi maso, minofu, ndi khungu. Komanso, chitsulo chimatha kukhazikika mu ubongo.
Ndani ali pachiwopsezo chotenga (INAD)?
Matenda a neuroaxonal dystrophy a ana ndi matenda a autosomal recessive. Izi zikutanthauza kuti kuti mwana adwale matendawa, makolo onse awiri ayenera kulandira kopi ya jini ya PLA2G6 yosinthidwa. Makolo a mwanayo ndiye omwe amanyamula jini yosinthidwa, koma sadzadwala matendawa.
Tangoganizirani, ngati makolo onse awiri ali ndi jini yosinthika iyi, mwana aliyense amene ali naye ali ndi mwayi wotsatira:
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* Pali mwayi umodzi mwa anayi wokhala ndi mwana wathanzi popanda kulandira jini yosinthika.
* Pali mwayi umodzi mwa anayi wobadwa ndi matendawa (INAD).
* Pali mwayi umodzi mwa awiri wosakhala ndi matendawa, koma kukhala wonyamula jini yosinthika.
Kodi zizindikiro za matenda a (INAD) ndi ziti?
Mu nkhani ya INAD, mwana wanu akhoza kukula bwino kuyambira miyezi 6 yoyambirira mpaka zaka zitatu.. Izi zikutanthauza kuti, zinthu monga kukhala pansi, kukwawa, kuyenda, ndi kulankhula zimayamba mwachibadwa. Kenako, pang'onopang'ono, maluso ophunziridwawa amayamba kutayika . Chifukwa cha izi nthawi zambiri chimakhala kutayika kwa minofu. Zotsatira zake, kufooka kwa minofu ((hypotonia)), kutanthauza thupi lofooka, kumawonekera, makamaka m'dera la thunthu. Pamene matendawa akupita patsogolo, kuuma kwa minofu ((spasticity)) kungachitike.
Ana omwe ali ndi INAD amathanso kukhala ndi zizindikiro monga:
- (Ataxia) (mavuto okhudzana ndi kulinganiza bwino ndi kugwirizana kwa mayendedwe)
- Kuvuta kumeza (dysphagia)
- Kulephera kumva
- Kulephera kugwira mutu mowongoka, kulephera kulamulira mutu
- Kutaya kukumbukira ndi nzeru, zomwe zingapitirire kukhala matenda a dementia
- Kugwidwa ndi khunyu
- Kulephera kulankhula chifukwa cha kufooka kwa minofu (dysarthria)
- Mavuto ena a maso, monga strabismus, kugwedezeka kwa maso (nystagmus), kapena kulephera kuwona bwino
Makanda omwe ali ndi INAD angakhalenso ndi nkhope zinazake zomwe zimaonekera pobadwa:
- Maso opindika (strabismus)
- Makutu akuluakulu, otsika
- Phumu lotulukira
- Mphuno yaying'ono kapena chibwano
Kodi matenda a (INAD) amapezedwa bwanji?
Ngati wina m'banja mwanu ali ndi matendawa, mayeso a mwana asanabadwe amatha kudziwa ngati mwana walandira kusintha kumeneku. Mayeso otchedwa Chorionic Villus Sampling (CVS) amatenga maselo kuchokera ku placenta ndikuyang'ana kusintha kwa majini.
Mayeso omwe amachitidwa pa makanda, ana, ndi akuluakulu ndi awa:
- Kuyezetsa magazi komwe kumayang'ana jini yosinthika ya (PLA2G6). Kuyezetsa majini kumeneku kumatha kuzindikira ana 8 mwa 10 omwe ali ndi (INAD).
- Kuyesa kwa Electroencephalogram - EEG kuti muwone ngati pali khunyu.
- Kujambula kwa MRI kuti muwone kusintha kwa ubongo.
- Mayeso monga electromyogram (EMG) omwe amayesa ntchito ya mitsempha.
- Kuyesa ((biopsy)) komwe kumatenga chidutswa chaching'ono cha khungu kapena mitsempha. Izi zimagwiritsidwa ntchito pofufuza kupezeka kwa (matupi ozungulira) mu axons a mitsempha ((axons)).
Kodi matenda a Infantile Neuroaxonal Dystrophy (INAD) amachiritsidwa bwanji?
Mwatsoka, palibe mankhwala a Infantile Neuroaxonal Dystrophy. Mankhwala omwe alipo pano amayang'ana kwambiri pakuchepetsa zizindikiro ndikuthandiza mwana kukhala womasuka momwe angathere. Mankhwalawa akuphatikizapo:
- Mankhwala Oletsa Kupweteka kwa Mtima
- Chubu chodyetsera (zakudya zamkati)
- Mankhwala opumulitsa minofu yolimba
- Mankhwala opha ululu
- Kuchiza thupi ndi kaimidwe koyenera kuti zithandize mutu wa mwana ndi minofu yofooka
- Mankhwala ogonetsa
Kodi mankhwala atsopano ochiritsira (INAD) ndi ati?
Akatswiri azachipatala akuchita kafukufuku ndi mayeso azachipatala kuti apeze njira zatsopano zoletsera kufalikira kwa matendawa komanso mwina kuchiza. Mankhwala omwe akupangidwa pano ndi awa:
- Chithandizo cholowa m'malo mwa ma enzyme (kupatsa enzyme yosowa kunja)
- (Chithandizo cha majini) (Chithandizo cha majini)
Kodi matenda (INAD) angapewedwe?
Ngati inu ndi mnzanu muli ndi kusintha kwa majini komwe kumayambitsa INAD (kutanthauza kuti, ngati nonse muli ndi kachilombo), mutha kukumana ndi mlangizi wa majini kuti mukambirane njira zopewera kuti isapitirire kwa ana anu. Njira imodzi imatchedwa Preimplantation Genetic Diagnosis (PGD). Pankhaniyi, mazira omwe amapangidwa kudzera mu IVF (in vitro fertilization) amasankhidwa ndikuyikidwa m'chiberekero.
Kodi tsogolo la mwana amene ali ndi (INAD) ndi lotani?
Mwana amene ali ndi (INAD) angaoneke ngati mwana wolabadira komanso wosamala kwambiri m'zaka zingapo zoyambirira. Koma matendawa akamakula, mungazindikire kuti masomphenya a mwanayo, kulankhula kwake, luso lake loyendetsa thupi, komanso luso lake lochita zinthu ndi ena limachepa pang'onopang'ono. Matendawa amathanso kukhudza dongosolo la kupuma . Izi zingayambitse matenda opatsirana m'mapapo monga (chibayo). Ana ambiri omwe ali ndi (INAD) amamwalira asanakwanitse zaka 10 .
Ana omwe ali ndi mtundu wosazolowereka (aNAD) amayamba kukhala ndi zizindikiro pakati pa zaka 7 ndi 12. Ngakhale kuti amakhala ndi moyo wautali kuposa ana omwe ali ndi mtundu wamba (INAD), moyo wawo umafupikitsidwanso.
Kusamalira mwana yemwe ali ndi matenda aakulu chonchi n'kovuta m'maganizo komanso mwakuthupi . Muli pachiwopsezo chokumana ndi mavuto monga kupsinjika maganizo ndi kuvutika maganizo. Chifukwa chake, onetsetsani kuti mwapempha thandizo, pezani nthawi yanu nokha, ndipo yesani kupeza chisangalalo ndi zinthu zazing'ono zomwe zimakubweretserani chisangalalo ndi banja lanu .
Kodi muyenera kupita kwa dokotala liti?
Pitani kwa dokotala ngati mwana wanu ali ndi zizindikiro izi:
- Mavuto ndi kuyenda bwino, kuyenda bwino, kapena kuyenda bwino
- Kuvuta kupuma
- Kufooka kwa minofu kapena kugwedezeka
- Kuvuta kulankhula kapena kumeza
- Mavuto a masomphenya kapena kumva
Ndi mafunso ati omwe muyenera kufunsa dokotala wanu?
Ndi bwino kufunsa dokotala wanu za zinthu monga:
- Kodi mwana wanga ali ndi mtundu wanji wa (INAD)?
- Ndi mankhwala ati omwe angathandize?
- Kodi tingatani kunyumba kuti tichepetse zizindikiro?
- Kodi akatswiri azachipatala omwe tiyenera kukumana nawo ndi ati?
- Kodi banja langa lonse liyenera kuyezedwa kusintha kwa majini kumeneku?
- Ndi mavuto ati omwe ndiyenera kusamala nawo?
Pomaliza, zomwe muyenera kukumbukira (Uthenga Wopita Nawo Kunyumba)
Kupeza kuti mwana wanu ali ndi matenda osachiritsika monga Infantile Neuroaxonal Dystrophy (INAD) ndi chochitika chosintha moyo. Matenda osungira mafuta m'thupi amenewa amakhudza luso la mwana wanu loyenda, kuona, kudya, ndi kulankhula. Ngakhale zizindikiro zitha kuthetsedwa ndipo mwana wanu akhoza kukhala womasuka, palibe mankhwala . Komabe, kafukufuku watsopano ndi mayesero azachipatala akuchitika . Ngati muli ndi kusintha kwa majini komwe kumayambitsa INAD (chonyamulira), lankhulani ndi dokotala wanu za njira zochepetsera chiopsezo chopatsira matendawo kwa mibadwo yamtsogolo. Musachite nokha, pezani thandizo lomwe mukufuna .
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