Ingabe ingane yakho encane inalesi sifo esingavamile? (Infantile Neuroaxonal Dystrophy - INAD) Masiqaphele lokhu!

Namuhla sizokhuluma ngesimo esingavamile abazali abaningi abangakaze basizwe, kodwa esithinta izingane. Sibizwa ngokuthi `(Infantile Neuroaxonal Dystrophy)` noma `(INAD)` ngamafuphi. Nakuba leli gama lingase lizwakale liyesabeka kancane, kubaluleke kakhulu ukwazi ngalo. Ngoba uma ubona noma yiziphi izinguquko enganeni yakho, kufanele ufune iseluleko sezokwelapha ngokushesha.

Kuyini `(Infantile Neuroaxonal Dystrophy - INAD)`? Ake sikuqonde kalula!

Kalula nje, `(INAD)` yisifo esingavamile kakhulu, esizuzwe njengefa esithinta isimiso sethu sezinzwa. Okwenzekayo kulokhu ukuthi uhlobo lwamafutha, olubizwa ngokuthi `(lipids),` luqongelela emangqamuzaneni ezinzwa ngokungadingekile. Cabanga ngakho njengezintambo ezithwala imiyalezo emizimbeni yethu. Lapho amafutha eqongelela kulezi zintambo, leyo miyalezo ayihambi kahle.

Kwenzekani-ke?

Lokhu kancane kancane kubangela ukuthi ingane ilahlekelwe ukulawula imisipha , ilahlekelwe umbono , ibe nobunzima bokukhuluma , futhi ikhubaze ukukhula kwengqondo . Ngokuvamile, lezi zimpawu zivela ebuntwaneni (ngaphambi kweminyaka emi-3). Kodwa-ke, ngezinye izikhathi lezi zimpawu zingavela kamuva, okungukuthi, ebuntwaneni.

Lesi yisifo esingaphansi kwesigaba `(isifo sokugcina amafutha).` Okusho ukuthi, isimo esenzeka ngenxa yokugcinwa kwamafutha emzimbeni. Ngeshwa, asikho ikhambi eliphelele lalesi sifo esisongela ukuphila esibizwa ngokuthi `(INAD).`

Kuyini `(Inkinga yokugcina amafutha)`?

Izinkinga zokugcina amafutha emzimbeni ziyiqembu lezifo ezingaphansi kwesigaba sezinkinga ze-metabolic ezizuzwe njengefa. Kalula nje, zithinta i-metabolism yethu, inqubo esiguqula ngayo ukudla esikudlayo kube amandla futhi sisuse imfucuza emizimbeni yethu.

Ama-lipid ayizinto ezinamafutha ezitholakala emaseli ethu, ikakhulukazi ku-myelin sheath emboza imizwa ebuchosheni nasemgogodleni. Abaluleke kakhulu ohlelweni lwethu lwezinzwa . Abantu abanenkinga yokugcina amafutha banala ma-lipid agcinwe emizimbeni yabo esikhundleni sokusetshenziswa kahle.

Izinkinga zokugcina amafutha njenge-INAD ziyizifo eziqhubekayo . Okusho ukuthi, njengoba amafutha eqongelela emzimbeni, izimpawu ziya ngokuya ziba zimbi.

Lisho ukuthini igama elithi "Infantile Neuroaxonal Dystrophy"?

Ukuqonda amagama akuleli gama kuzosiza ekucaciseni lesi sifo kakhudlwana:

• Izinsana: `(INAD)` yisimo esikhona lapho kuzalwa (`(isifo sokuzalwa)`). Izimpawu zivame ukuvela ebuntwaneni, ngaphambi kweminyaka emi-3 ubudala.
• I-Neuroaxonal: Lesi sifo sithinta ama-axon amangqamuzana ezinzwa. Lawa ma-axon athwala imiyalezo esuka ebuchosheni iye kwezinye izingxenye zomzimba.
• I-Dystrophy: "I-Dystrophy" yigama lezokwelapha elisho ubuthakathaka kanye nokuchithwa kancane kancane kwezicubu, izitho zomzimba, kanye nemisipha.

Yimaphi amanye amagama e-`(INAD)`?

Abanye odokotela babiza lesi sifo ngokuthi "isifo sikaSeitelberger," ngemuva kukadokotela owaqala ukuchaza lesi sifo ngawo-1950. Singabizwa nangokuthi `(PLA2G6-associated neurodegeneration)` noma `(PLAN)`.

Yiziphi izinhlobo eziyinhloko ze-`(INAD)`?

I-neuroaxonal dystrophy yezinsana iyindlela evame kakhulu yalesi sifo. Odokotela bayibiza nangokuthi uhlobo olujwayelekile lwe-INAD. Njengoba igama lisho, izimpawu ziqala ebuntwaneni.

Kukhona olunye uhlobo, olubizwa ngokuthi `(atypical INAD (aNAD))`. Kulesi simo, izimpawu zivela cishe eminyakeni engu-4, ngezinye izikhathi ngisho nangemva kwalokho, lapho umuntu esemdala. Lezi zingane zingase zibe nokulibaziseka kokukhuluma , noma zingase zibonakale zine-`(autism spectrum disorder)`. Lolu hlobo lwesifo aluvamile.

Kuvame kangakanani `(INAD)`?

Lesi yisifo esingavamile kakhulu , esithinta cishe ingane eyodwa kweziyikhulu eziyizinkulungwane kuya kwezimbili.

Iyini imbangela yokwakheka kwe-`(INAD)`?

Izingane ezine-`(INAD)` zithola ushintsho (ukuguqulwa) ku-gene `(PLA2G6)` kubo bobabili abazali. Le gene isiza ekwenzeni i-`(enzyme)` (uhlobo lweprotheni) ebizwa ngokuthi i-`(A2 phospholipase)`. Le `(enzyme)` iphula uhlobo lwamafutha olubizwa ngokuthi i-`(phospholipids)`. Uma i-metabolism yamafutha yenziwa kahle, amangqamuzana ezinzwa aphilile.

Ezinganeni ezine-`(INAD)`, lesi sakhi sofuzo esishintshiwe se-`(PLA2G6)` sithikameza ukukhiqizwa kanye nomsebenzi waleyo `(enzyme)`. Ngemuva kwalokho, izinto eziyindilinga ezibizwa ngokuthi `(imizimba ye-spheroid)` ziqala ukufakwa emithanjeni. Lezi zivame ukufakwa eziphethweni zemizwa ezixhuma emehlweni, emisipheni, nasesikhumbeni. Futhi, insimbi ingafakwa ebuchosheni.

Ubani osengozini yokuthola `(INAD)`?

I-neuroaxonal dystrophy yezinsana iyisifo esibangelwa yi-autosomal recessive disorder. Lokhu kusho ukuthi ukuze ingane ibe nalesi sifo, bobabili abazali kumele bazuze ikhophi yesakhi sofuzo se-PLA2G6 esiguquliwe. Abazali bengane-ke bangabathwali besakhi sofuzo esiguquliwe, kodwa ngeke babe nalesi sifo.

Cabanga nje, uma bobabili abazali bengabathwali balesi sakhi sofuzo esiguquliwe, ingane ngayinye abanayo inamathuba alandelayo:

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* Kunethuba elilodwa kwamane lokuba nomntwana onempilo ngaphandle kokuthola ifa le-gene eliguquliwe.

* Kunethuba elilodwa kwamane lokuzalwa nalesi sifo `(INAD)`.

* Kunethuba elilodwa kwamabili lokungabi nalesi sifo, kodwa kube ngumthwali wesakhi sofuzo esiguquliwe.

Ziyini izimpawu zesifo `(INAD)`?

Esimweni se-INAD esivamile, ingane yakho ingakhula kahle kusukela ezinyangeni zokuqala eziyi-6 kuya eminyakeni engaba ngu-3 ubudala.. Okusho ukuthi, izinto ezifana nokuhlala, ukukhasa, ukuhamba, nokukhuluma ziqala ngokujwayelekile. Bese, kancane kancane, la makhono afundiwe aqala ukulahleka . Isizathu salokhu kuvame ukuphelelwa amandla kwemisipha. Ngenxa yalokho, ubuthakathaka bemisipha (`(hypotonia)`), okusho umzimba obuthakathaka, buyabonakala, ikakhulukazi endaweni yesiqu. Njengoba lesi sifo siqhubeka, ukuqina kwemisipha (`(spasticity)`) kungase kwenzeke.

Izingane ezine- INAD zingase zibe nezimpawu ezifana nalezi:

• `(Ataxia)` (izinkinga ngokulinganisela kanye nokuhlanganiswa kokunyakaza)
• Ubunzima bokugwinya (i-dysphagia)
• Ukukhubazeka kokuzwa
• Ukungakwazi ukubamba ikhanda liqonde, ukungakwazi ukulawula ikhanda
• Ukulahlekelwa inkumbulo nokuhlakanipha, okungaqhubekela phambili ekubeni yi-dementia
• Ukuquleka
• Ubunzima bokukhuluma ngenxa yobuthakathaka bemisipha (i-dysarthria)
• Ezinye izinkinga zamehlo, njenge-strabismus, ukudikiza kwamehlo (i-nystagmus), noma ukulahleka kokubona

Izingane ezine-INAD zingase zibe nezici ezithile zobuso ezibonakala lapho zizalwa:

• Amehlo aphambene (strabismus)
• Izindlebe ezinkulu, eziphansi
• Ibunzi elivelele
• Impumulo noma isilevu esincane

Sitholakala kanjani isifo `(INAD)`?

Uma othile emndenini wakho enalesi sifo, ukuhlolwa kokukhulelwa kungathola ukuthi ingane izuze yini lolu guquko. Ukuhlolwa okubizwa ngokuthi i-Chorionic Villus Sampling (CVS) kuthatha amaseli ku-placenta bese kuhlola uguquko lwezakhi zofuzo.

Lezi yizivivinyo ezenziwa ezinsaneni, ezinganeni nakubantu abadala:

• Ukuhlolwa kwegazi okubheka i-gene `(PLA2G6)` eguquliwe. Lokhu kuhlolwa kwe-genetic kungakhomba izingane ezingu-8 kwezingu-10 ezine-`(INAD).`
• Ukuhlolwa kwe-"Electroencephalogram - EEG" ukuze kuhlolwe ukuxhuzula.
• I-MRI scan ukuze kubonakale izinguquko ebuchosheni.
• Ukuhlolwa okufana ne-electromyogram (EMG) elinganisa umsebenzi wezinzwa.
• I-biopsy ukuhlolwa okuthatha ingxenye encane yesikhumba noma izicubu zemizwa. Lokhu kwenziwa ukuhlola ukuthi kukhona yini imizimba ye-spheroid kuma-axon.

Iphathwa kanjani i-Infantile Neuroaxonal Dystrophy (INAD)?

Ngeshwa, ayikho ikhambi le-Infantile Neuroaxonal Dystrophy. Ukwelashwa kwamanje kugxile ekulawuleni izimpawu nasekusizeni ingane ukuthi ikhululeke ngangokunokwenzeka. Lokhu kwelashwa kufaka phakathi:

• Imithi Yokuquleka
• Ipayipi lokuphakela (ukudla okunomsoco kwangaphakathi)
• Umuthi wokukhulula imisipha eqinile
• Ama-Painkiller
• Ukwelashwa ngokomzimba kanye nesimo esifanele sokusekela ikhanda lengane kanye nemisipha ebuthakathaka
• Imithi yokudambisa ubuhlungu

Yiziphi izindlela zokwelapha ezintsha ze-`(INAD)`?

Ochwepheshe bezokwelapha benza ucwaningo kanye nezivivinyo zezokwelapha ukuthola izindlela ezintsha zokuvimba ukusabalala kwalesi sifo futhi mhlawumbe nokuselapha. Ukwelashwa okusathuthukiswayo njengamanje kufaka phakathi:

• Ukwelashwa kokufaka esikhundleni sama-enzyme (okunikeza i-enzyme engasebenzi kahle ngaphandle)
• `(Ukwelashwa ngofuzo)` (Ukwelashwa ngofuzo)

Ingabe lesi sifo `(INAD)` singavinjelwa?

Uma wena nomlingani wakho nobabili ninokuguquka kwezakhi zofuzo okubangela i-INAD (okungukuthi, uma nobabili ningabathwali), ningahlangana nomeluleki wezakhi zofuzo ukuze nixoxe ngezindlela zokuvimbela ukuthi kungadluliselwa ezinganeni zenu. Enye indlela ibizwa ngokuthi i-Preimplantation Genetic Diagnosis (PGD). Kulokhu, ama-embryo adalwe nge-IVF (in vitro fertilization) ayakhethwa bese efakwa esibelethweni.

Ayini amathuba esikhathi esizayo omntwana one-`(INAD)`?

Ingane ene-`(INAD)` ingase ibonakale njengengane esabela kahle futhi ephapheme eminyakeni embalwa yokuqala. Kodwa njengoba lesi sifo siqhubeka, ungase uqaphele ukuthi umbono wengane, inkulumo, amakhono okunyakaza, kanye nekhono lokuxhumana nabanye liyehla kancane kancane. Lesi sifo singathinta nohlelo lokuphefumula . Lokhu kungaholela ezifweni zokuphefumula ezifana ne-`(pneumonia)`. Iningi lezingane ezine-`(INAD)` ziyafa zingakafiki eminyakeni eyi-10 .

Izingane ezinesifo sohlobo olungavamile (i-aNAD) ziqala ukuba nezimpawu phakathi kweminyaka engu-7 nengu-12. Nakuba ziphila isikhathi eside kunezingane ezinesifo sohlobo olujwayelekile (i-INAD), isikhathi sazo sokuphila naso sifushane.

Ukunakekela ingane enesifo esibi kangaka kuyakhathaza ngokwengqondo nangokomzimba . Usengozini yokuthola izinkinga ezifana nokucindezeleka nokucindezeleka. Ngakho-ke, qiniseka ukuthi ucela usizo, uzinike isikhathi, futhi uzame ukuthola injabulo ezintweni ezincane ezikulethela injabulo nomndeni wakho .

Kufanele ubonane nini nodokotela?

Bona udokotela uma ingane yakho inanoma yiziphi zalezi zimpawu:

• Izinkinga ngokulinganisela, ukunyakaza, noma ukuhamba
• Ubunzima bokuphefumula
• Ubuthakathaka bemisipha noma ukudikiza
• Ubunzima bokukhuluma noma ukugwinya
• Izinkinga zokubona noma zokuzwa

Yimiphi imibuzo okufanele uyibuze udokotela wakho?

Kungumqondo omuhle ukubuza udokotela wakho ngezinto ezifana nalezi:

• Hlobo luni lwe-`(INAD)` ingane yami enalo?
• Yikuphi ukwelashwa okungasiza?
• Yini esingayenza ekhaya ukuze sinciphise izimpawu?
• Obani ochwepheshe bezokwelapha okufanele sihlangane nabo?
• Ingabe wonke umndeni wami kufanele uhlolwe lolu shintsho lwezakhi zofuzo?
• Yiziphi izinkinga okufanele ngiziqaphele?

Okokugcina, okufanele ukukhumbule (Umyalezo Wokuya Ekhaya)

Ukuthola ukuthi ingane yakho inesifo esingelapheki njenge-Infantile Neuroaxonal Dystrophy (INAD) kuyisenzakalo esishintsha impilo. Lesi sifo sokugcina amafutha emzimbeni sithinta ikhono lengane yakho lokunyakaza, ukubona, ukudla, nokukhuluma. Nakuba izimpawu zingalawulwa futhi ingane yakho ingenziwa ikhululeke, ayikakabi khona ikhambi . Kodwa-ke, ucwaningo olusha kanye nezivivinyo zemitholampilo ziyaqhubeka . Uma une-mutation ebangela i-INAD (isithwali), khuluma nodokotela wakho ngezindlela zokunciphisa ingozi yokuyidlulisela ezizukulwaneni ezizayo. Ungalokothi uye wedwa, thola usizo oludingayo .

` I-INAD, i-infantile neuroaxonal dystrophy, isifo sokugcina amafutha emzimbeni, isifo sofuzo, isifo esingavamile, impilo yengane, ukuwohloka kwemizwa, izifo zofuzo, izifo ezingavamile, impilo yengane