Ingaba umntwana wakho omncinci unale sifo singaqhelekanga? (Infantile Neuroaxonal Dystrophy - INAD) Masiqaphele oku!

Namhlanje siza kuthetha ngemeko engaqhelekanga abazali abaninzi abangazange bayive, kodwa echaphazela abantwana. Ibizwa ngokuba yi-`(Infantile Neuroaxonal Dystrophy)` okanye `(INAD)` ngamafutshane. Nangona eli gama lisenokuvakala lisoyikisa kancinci, kubaluleke kakhulu ukwazi ngalo. Kuba ukuba ubona naluphi na utshintsho kumntwana wakho omncinci, kufuneka ufune ingcebiso kagqirha ngokukhawuleza.

Yintoni i-`(Infantile Neuroaxonal Dystrophy - INAD)`? Masiyiqonde ngokulula!

Ngamafutshane, `(INAD)` sisifo esingaqhelekanga nesizuzwa njengelifa esichaphazela inkqubo yethu yemithambo-luvo. Okwenzekayo koku kukuba uhlobo oluthile lwamafutha, olubizwa ngokuba yi`(lipids),` luqokelelana kwiiseli zemithambo-luvo ngokungeyomfuneko. Cinga ngako njengeentambo ezithwala imiyalezo emizimbeni yethu. Xa amafutha eqokelelana kwezi ntambo, loo miyalezo ayihambi kakuhle.

Kuza kwenzeka ntoni ke ngoko?

Oku kubangela ukuba umntwana angakwazi ukulawula izihlunu , angaboni kakuhle , abe nobunzima bokuthetha , kwaye aphuhlise ingqondo . Ngokuqhelekileyo, ezi mpawu zibonakala ebuntwaneni (ngaphambi kokuba afikelele kwiminyaka emi-3). Nangona kunjalo, ngamanye amaxesha ezi mpawu zinokuvela kamva, oko kukuthi, xa efikisa.

Esi sisifo esikwisigaba `(ingxaki yokugcina amafutha emzimbeni).` Oko kukuthi, imeko eyenzeka ngenxa yokugcina amafutha emzimbeni. Ngelishwa, akukabikho unyango olupheleleyo lwesi sifo sisongela ubomi esibizwa ngokuba yi`(INAD).`

Yintoni `(Ingxaki yokugcina amafutha)`?

Iingxaki zokugcina amafutha ziliqela lezifo ezikudidi lweengxaki zemetabolism ezizuzwe njengelifa. Ngamafutshane, zichaphazela imetabolism yethu, inkqubo esiguqula ngayo ukutya esikutyayo kube ngamandla kwaye sisuse inkunkuma emizimbeni yethu.

Iilipids zizinto ezinamafutha ezifumaneka kwiiseli zethu, ingakumbi kwi-myelin sheath egubungela imithambo-luvo ebuchotsheni nakwi-spinal cord. Zibaluleke kakhulu kwinkqubo yethu yemithambo-luvo . Abantu abanengxaki yokugcina amafutha banezi lipids ezigcinwe emizimbeni yabo endaweni yokuba zisetyenziswe ngokufanelekileyo.

Iingxaki zokugcina amafutha emzimbeni ezifana ne-INAD zizifo eziqhubekekayo . Oko kukuthi, njengoko amafutha eqokelelana emzimbeni, iimpawu ziya zisiba mandundu kancinci kancinci.

Lithetha ukuthini igama elithi "Infantile Neuroaxonal Dystrophy"?

Ukuqonda amagama akweli gama kuya kunceda ukucacisa ngakumbi esi sifo:

• Usana: `(INAD)` yimeko ekhoyo xa umntwana ezalwa (`(isifo sokuzalwa)`). Iimpawu zihlala zibonakala ebuntwaneni, ngaphambi kokuba umntwana abe neminyaka emi-3 ubudala.
• I-Neuroaxonal: Esi sifo sichaphazela ii-axon zeeseli zemithambo-luvo. Ezi axon zithwala imiyalezo esuka engqondweni iye kwezinye iindawo zomzimba.
• I-Dystrophy: "I-Dystrophy" ligama lezonyango elithetha ukuba buthathaka kancinci kancinci kunye nokuchithwa kwezicubu, amalungu omzimba kunye nemisipha.

Ngawaphi amanye amagama e-`(INAD)`?

Abanye oogqirha babiza esi sifo ngokuthi "isifo sikaSeitelberger," emva kogqirha owaqala ukuchaza esi sifo ngeminyaka yoo-1950. Sikwabizwa ngokuba yi-`(PLA2G6-associated neurodegeneration)` okanye `(PLAN)`.

Ziziphi iintlobo eziphambili ze-`(INAD)`?

I-neuroaxonal dystrophy yosana yeyona ndlela ixhaphakileyo yesi sifo. Oogqirha bakwabiza ngokuba yindlela eqhelekileyo ye-INAD. Njengoko igama lisitsho, iimpawu ziqala ebuntwaneni.

Kukho olunye uhlobo, olubizwa ngokuba yi-`(atypical INAD (aNAD))`. Kule meko, iimpawu zibonakala malunga neminyaka emi-4 ubudala, ngamanye amaxesha nasemva koko, xa uselula ekhula. Aba bantwana banokuba nokulibaziseka kokuthetha , okanye banokubonakala benesifo se-autism spectrum. Olu hlobo lwesifo aluxhaphakanga kangako.

Ixhaphake kangakanani `(INAD)`?

Esi sisifo esingaqhelekanga kakhulu , mhlawumbi sichaphazela umntwana omnye kwikhulu lamawaka ukuya kwizigidi ezibini.

Yintoni isizathu sokwakheka kwe-`(INAD)`?

Abantwana abane `(INAD)` bafumana utshintsho (uguquko) kwi gene `(PLA2G6)` kubazali bobabini. Le gene inceda ekwenzeni `(i enzyme)` (uhlobo lweproteni) ebizwa ngokuba yi `(A2 phospholipase)`. Le `(i enzyme)` iqhekeza uhlobo lwamafutha olubizwa ngokuba yi `(phospholipids)`. Xa i-metabolism yamafutha yenziwe ngokufanelekileyo, iiseli zemithambo-luvo ziphilile.

Kubantwana abane `(INAD)`, le `(PLA2G6)` itshintshiweyo iyayiphazamisa imveliso kunye nomsebenzi we `(enzyme)`. Emva koko, izinto eziziingqukuva ezibizwa ngokuba `(imizimba ye-spheroid)` ziqala ukubekwa kwimithambo-luvo. Ezi zihlala zibekwe kwiziphelo zemithambo-luvo ezidibana namehlo, izihlunu kunye nolusu. Kwakhona, i-iron inokubekwa engqondweni.

Ngubani osengozini yokuphuhlisa `(INAD)`?

I-neuroaxonal dystrophy yosana yi-autosomal recessive disorder. Oku kuthetha ukuba ukuze umntwana abe nesi sifo, bobabini abazali kufuneka bazuze ikopi ye-PLA2G6 gene eguquliweyo. Abazali bomntwana ke ngabo abathwali be-gene eguquliweyo, kodwa abayi kuba nesi sifo.

Khawucinge nje, ukuba bobabini abazali bangabathwali bale jini yofuzo eguqulweyo, umntwana ngamnye abanaye unethuba elilandelayo:

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* Kukho ithuba eli-1 kwabane lokuba nomntwana osempilweni ngaphandle kokufumana ilifa le-gene eguqulweyo.

* Kukho ithuba eli-1 kwabane lokuzalwa unesifo `(INAD)`.

* Kukho ithuba eli-1 kwaba-2 lokungabi naso esi sifo, kodwa ube ngumthwali wejini eguquliweyo.

Zithini iimpawu zesifo `(INAD)`?

Kwimeko ye-INAD eqhelekileyo, umntwana wakho unokukhula ngokuqhelekileyo ukususela kwiinyanga ezi-6 zokuqala ukuya kwiminyaka emi-3 ubudala.Oko kukuthi, izinto ezinje ngokuhlala, ukukhasa, ukuhamba, nokuthetha ziqala ngokwesiqhelo. Emva koko, kancinci kancinci, ezi zakhono zifundiweyo ziqala ukulahleka . Isizathu soku kudla ngokuba kukuphelelwa yimisipha. Ngenxa yoko, ubuthathaka bemisipha (`(hypotonia)`), oko kuthetha umzimba obuthathaka, buyabonakala, ingakumbi kwindawo yomqolo. Njengoko isifo siqhubeka, ukuqina kwemisipha (`(spasticity)`) kunokwenzeka.

Abantwana abane -INAD banokufumana iimpawu ezifana nezi:

• `(Ataxia)` (iingxaki zokulinganisela kunye nokulungelelaniswa kweentshukumo)
• Ubunzima bokuginya (dysphagia)
• Ukuphazamiseka kokuva
• Ukungakwazi ukubamba intloko ithe tye, ukungakwazi ukulawula intloko
• Ukulahlekelwa yinkumbulo kunye nobukrelekrele, okunokuqhubela phambili ekubeni yi-dementia
• Ukuxhuzula
• Ubunzima bokuthetha ngenxa yobuthathaka bemisipha (dysarthria)
• Ezinye iingxaki zamehlo, ezifana ne-strabismus, ukuxhuzula kwamehlo (nystagmus), okanye ukulahleka kokubona

Iintsana ezine-INAD zinokuba neempawu ezithile zobuso ezibonakalayo xa zizalwa:

• Amehlo anqamlezileyo (strabismus)
• Iindlebe ezinkulu, ezisezantsi
• Ibunzi elivelileyo
• Impumlo okanye isilevu esincinci

Sifunyaniswa njani isifo `(INAD)`?

Ukuba kukho umntu kusapho lwakho onesi sifo, uvavanyo lokukhulelwa lunokufumanisa ukuba umntwana ulufumene na olu tshintsho. Uvavanyo olubizwa ngokuba yiChorionic Villus Sampling (CVS) luthatha iiseli kwi-placenta luze lujonge utshintsho lwezakhi zofuzo.

Ezi ziimvavanyo ezenziwa kwiintsana, abantwana kunye nabantu abadala:

• Uvavanyo lwegazi olukhangela i-gene eguquliweyo ye-`(PLA2G6)`. Olu vavanyo lwe-genetic lunokuchonga abantwana abasi-8 kwabali-10 abane-`(INAD).`
• Uvavanyo lwe-"Electroencephalogram - EEG" ukuze kukhangelwe ukuba kukho ukuxhuzula.
• I-MRI scan ukuze kubonwe utshintsho engqondweni.
• Uvavanyo olufana ne-electromyogram (EMG) elinganisa umsebenzi wemithambo-luvo.
• I-biopsy luvavanyo oluthatha iqhekeza elincinci lesikhumba okanye izicubu zemithambo-luvo. Oku kwenzelwa ukujonga ukuba kukho imizimba ye-spheroid kwi-axons.

Inyangwa njani i-Infantile Neuroaxonal Dystrophy (INAD)?

Ngelishwa, akukho nyango lwe-Infantile Neuroaxonal Dystrophy. Unyango lwangoku lugxile ekulawuleni iimpawu kunye nokunceda umntwana ukuba akhululeke kangangoko kunokwenzeka. Olu nyango luquka:

• Imithi yokuxhuzula
• Ityhubhu yokondla (isondlo sangaphakathi)
• Amayeza okuphumza izihlunu eziqinileyo
• Izibulali-ntlungu
• Unyango lomzimba kunye nesimo esifanelekileyo sokuxhasa intloko yomntwana kunye nemisipha ebuthathaka
• Izithomalalisi

Ziziphi iindlela zonyango ezisandul' ukuphuhliswa ze-`(INAD)`?

Iingcali zonyango zenza uphando kunye novavanyo lwezonyango ukuze zifumane iindlela ezintsha zokuthintela ukusasazeka kwesi sifo kwaye mhlawumbi zisinyange. Unyango olusaphuhliswayo ngoku luquka:

• Unyango lokutshintshwa kwee-enzyme (olunika i-enzyme engonelanga ngaphandle)
• `(Unyango lwe-gene)` (Unyango lwe-gene)

Ngaba esi sifo `(INAD)` singathintelwa?

Ukuba wena neqabane lakho nobabini ninotshintsho lwezakhi zofuzo olubangela i-INAD (oko kukuthi, ukuba nobabini ningabathwali), ningadibana nomcebisi wezakhi zofuzo ukuze nithethe ngeendlela zokuthintela ukuba ludluliselwe ebantwaneni benu. Enye indlela ibizwa ngokuba yi-Preimplantation Genetic Diagnosis (PGD). Kule meko, ii-embryos ezidalwe nge-IVF (in vitro fertilization) ziyakhethwa kwaye zifakwe kwisibeleko.

Zithini iithemba zekamva lomntwana one-`(INAD)`?

Umntwana one-`(INAD)` angabonakala njengomntwana osabela kakuhle kwaye ophaphileyo kwiminyaka embalwa yokuqala. Kodwa njengoko isifo siqhubeka, ungaphawula ukuba umbono womntwana, intetho, izakhono zakhe zokunyakaza, kunye nokukwazi kwakhe ukusebenzisana nabanye kuyehla kancinci kancinci. Esi sifo sinokuchaphazela nenkqubo yokuphefumla . Oku kunokukhokelela kwiintsholongwane zokuphefumla ezifana ne-`(pneumonia)`. Uninzi lwabantwana abane-`(INAD)` bafa ngaphambi kokuba bafikelele kwiminyaka eli-10 .

Abantwana abanohlobo olungaqhelekanga (aNAD) baqala ukuba neempawu phakathi kweminyaka esi-7 neli-12 ubudala. Nangona bephila ixesha elide kunabantwana abanohlobo oluqhelekileyo (INAD), ubomi babo bufutshane.

Ukunyamekela umntwana onesifo esinzima kangaka kufuna ingqondo nomzimba . Ukwasemngciphekweni wokufumana iingxaki ezifana noxinzelelo kunye nokudakumba. Ngoko ke, qiniseka ukuba ucela uncedo, wenze ixesha lakho, kwaye uzame ukufumana uvuyo kwizinto ezincinci ezikuzisela uvuyo nosapho lwakho .

Ufanele uye nini kugqirha?

Bona ugqirha ukuba umntwana wakho unezinye zezi mpawu:

• Iingxaki ngokulinganisela, ukuhamba, okanye ukuhamba
• Ubunzima bokuphefumla
• Ubuthathaka okanye ukushukuma kwemisipha
• Ubunzima bokuthetha okanye ukuginya
• Iingxaki zokubona okanye zokuva

Yeyiphi imibuzo omele uyibuze ugqirha wakho?

Kungcono ukubuza ugqirha wakho ngezinto ezifana nezi:

• Luhlobo luni lwe-`(INAD)` olunalo umntwana wam?
• Zeziphi iindlela zonyango ezinokunceda?
• Yintoni esinokuyenza ekhaya ukunciphisa iimpawu?
• Ngoobani iingcali zonyango esifanele sidibane nabo?
• Ngaba lonke usapho lwam kufuneka luvavanywe olu tshintsho lwemfuza?
• Zeziphi iingxaki ekufuneka ndiziqaphele?

Okokugqibela, yintoni ekufuneka uyikhumbule (Umyalezo Wokuya Ekhaya)

Ukufumanisa ukuba umntwana wakho unesifo esinganyangekiyo njenge-Infantile Neuroaxonal Dystrophy (INAD) sisiganeko esitshintsha ubomi. Esi sifo sokugcina amafutha emzimbeni sichaphazela amandla omntwana wakho okushukuma, ukubona, ukutya, nokuthetha. Nangona iimpawu zinokulawulwa kwaye umntwana wakho enokwenziwa akhululeke, akukho nyango . Nangona kunjalo, uphando olutsha kunye novavanyo lweklinikhi luyaqhubeka . Ukuba une-mutation ebangela i-INAD (umthwali), thetha nogqirha wakho malunga neendlela zokunciphisa umngcipheko wokuyidlulisela kwizizukulwana ezizayo. Ungaze uye wedwa, fumana uncedo olufunayo .

` I-INAD, i-infantile neuroaxonal dystrophy, isifo sokugcina amafutha emzimbeni, isifo semfuza, isifo esingaqhelekanga, impilo yomntwana, ukuwohloka kwemithambo-luvo, izifo zemfuza, izifo ezingaqhelekanga, impilo yomntwana