Ingaba umntwana wakho unazo ezi mpawu? Masifunde ngeZellweger Syndrome

Xa sijonga usana olusandul’ ukuzalwa, iintliziyo zethu zizaliswa luvuyo, akunjalo? Kodwa ngamanye amaxesha, nangona kunqabile kakhulu, ezinye iintsana ziza kweli hlabathi zineengxaki ezithile zempilo ekuzalweni. I-Zellweger Syndrome yimeko engaqhelekanga, enzulu yemfuza echaphazela iintsana ezisandul’ ukuzalwa. Usenokuba nexhala xa usiva eli gama, kodwa masithethe ngalo ngokulula size siliqonde.

Yintoni iZellweger Syndrome?

Ngamafutshane, iZellweger Syndrome sisifo semfuza esenzeka kwiintsana ezisandul’ ukuzalwa. Oogqirha bathi sesona sifo sinzima kakhulu kwezine ziphantsi kweZellweger spectrum. Sichaphazela inkqubo yemithambo-luvo kunye nemetabolism (inkqubo yokuguqula ukutya kube ngamandla) emva nje kokuzalwa. Singonakalisa ingqondo, isibindi kunye nezintso ngokukodwa. Sinokuchaphazela nemisebenzi emininzi ebalulekileyo emzimbeni. Elinye igama lale nto yi-cerebrohepatorenal syndrome. Enyanisweni, le meko idla ngokuba yingozi, nto leyo ethetha ukuba inokuba yingozi ebomini.

Zithini iingxaki zeZellweger Spectrum Disorders (ZSDs)?

Ezi zikwabizwa ngokuba yi-'peroxisomal biogenesis disorders'. Ezi zifo zichaphazela iindawo zeeseli zethu ezibizwa ngokuba yi-'peroxisomes'. Ezi 'peroxisomes' zibalulekile kwimisebenzi emininzi emzimbeni wethu.

Ezinye izifo ezikwi-spectrum yeZellweger zezi:

• Isifo sikaHeimler: Oku kubangela ukulahleka kokuva kunye neengxaki zamazinyo kwiintsana ezineenyanga ezimbalwa ubudala okanye ezincinci kakhulu.
• Isifo se-Infantile Refsum: Oku kubangela ukuba izihlunu zomntwana zingasebenzi kakuhle kwaye kulibazise ukukhula, njengokuqala ukuhamba.
• I-adrenoleukodystrophy yosana olusandul’ ukuzalwa: Oku kubangela ukulahleka kokuva nokubona. Kukwabangela iingxaki kwingqondo yomntwana, umqolo, kunye nemisipha.

Ngubani ofumana iZellweger syndrome?

Oku kubangelwa lutshintsho oluthile (utshintsho) kwiijini. Ngokuchanekileyo, esi sisifo esibangelwa yi-autosomal recessive disorder. Oku kuthetha ukuba umntwana uya kufumana esi sifo kuphela ukuba ufumana ijini enesiphene kumama nakutata .

Cinga ngale ndlela, ukuba bobabini abazali "bathwala" esi sifuzo sinesiphene (oko kuthetha ukuba abanaso esi sifo, kodwa banaso), abantwana babo baya:

• Kukho amathuba angama-50% okuba baya kuba ngabathwali beenqwelo-mafutha.
• Kukho amathuba angama-25% okuzalwa unesifo.
• Kukho ithuba elingama-25% lokuzalwa uphilile kwaye ungenalo ijini.

Ixhaphake kangakanani iZellweger syndrome?

Oku kunqabile kakhulu.Isifo. Xa zidityaniswe nezinye iingxaki zeZellweger spectrum, ezi meko zenzeka malunga nenye kwi-50,000 ukuya kwenye kwi-75,000 yeentsana ezisandul’ ukuzalwa. Ngoko awuva rhoqo ngaso.

Yintoni ebangela i-Zellweger syndrome?

Oku kubangelwa kukuguquka kwenye yezakhi zofuzo ezili-12 ezibizwa ngokuba yi-'PEX' gene. Eyona nto ixhaphakileyo yale meko kukuguquka kwezakhi zofuzo ze-'PEX1'. Ezi zakhi zofuzo zilawula 'iiPeroxisomes', ezibalulekileyo ekusebenzeni ngokuqhelekileyo kweeseli zethu.

IiPeroxisomes zifana neefektri ezincinci ngaphakathi kwiiseli. Ziqhekeza iityhefu eziyingozi kunye namafutha emzimbeni. Zikwadlala indima enkulu ekuphuhlisweni kwala malungu alandelayo emzimbeni wethu:

* Amathambo

* Ingqondo

* Amehlo

* Intliziyo

* Izintso

* Isibindi

* Imiva

Khawucinge nje, ukuba ezi 'peroxisomes' azisebenzi kakuhle, zichaphazela onke amalungu omzimba kunye nayo yonke inkqubo.

Ziziphi iimpawu ze-Zellweger syndrome?

Ezi mpawu zihlala zibonakala kwangoko emva kokuba umntwana ezelwe. Ngokukodwa, oogqirha baqaphela iimpawu ezithile ebusweni bomntwana . Nazi:

• Ibhulorho yempumlo ibanzi.
• Indawo ezikuyo iifoldi zesikhumba (ii-Epicanthal folds) kwiikona zangaphakathi zamehlo.
• Ukuthambisa ubuso.
• Ubunzi obuphezulu.
• Iinkophe azikhuli kakuhle.
• Umgama okhulayo phakathi kwamehlo (amehlo abonakala ekude kakhulu).

Ukongeza kwezi mpawu zobuso, ezinye iimpawu zingabandakanya:

• Ubunzima bokuncancisa: Usana alukwazi ukuncancisa kakuhle.
• Isibindi esikhulu kunye/okanye ipleyini: Oku kunokubonwa xa ugqirha ehlola isisu.
• Ukopha kwamathumbu: Igazi lisenokuba likhona kunye nokuhlanza okanye isitulo.
• Ukuphazamiseka kokuva nokubona: Usana lusenokungasabeli kakuhle kwizandi okanye ngaphandle.
• I-Jaundice: Ukutyheli kwamehlo nolusu ngenxa yokuba isibindi singasebenzi kakuhle.
• Ukuxhuzula: Iimeko ezifana nokuxhuzula zinokwenzeka.
• Ukukhula kwemisipha okunciphileyo kunye nobunzima bokushukuma: Imilenze yomntwana isenokubonakala ngathi ayikhuli kakuhle kwaye ayishukumi kakuhle.

Ifunyanwa njani iZellweger syndrome?

Ngokwesiqhelo, kwangoko nje ukuba umntwana abelekwe, ugqirha okanye umongikazi uyayikrokrela le nto xa ebona iimpawu ezithile ebusweni bomntwana. Emva koko benza olu vavanyo lulandelayo ukuqinisekisa ukuba unesifo:

• Uvavanyo lwegazi nomchamo:Ukuba kukho izinto ezininzi egazini okanye emchameni, ingakumbi iimolekyuli zamafutha, oko kungaba luphawu lweZellweger syndrome. Ngenxa yokuba iiperoxisomes zingasebenzi kakuhle, ezi zinto aziphulwa kakuhle ngumzimba.
• Iiskeni: Uvavanyo lwe-'Ultrasound' lwenziwa ukujonga ubungakanani bezitho zangaphakathi ezifana nesibindi nezintso kunye nendlela ezisebenza ngayo. Iskeni yobuchopho ye-'MRI` (Magnetic Resonance Imaging) nayo ibalulekile kwinkqubo yokuxilonga.
• Uvavanyo lwemfuza: Isampuli yegazi ingathathwa ukuze kuchongwe ukuba kukho utshintsho kwimfuza ye-PEX. Yiyo le nto iya kuqinisekisa ukuxilongwa .

Ngaba iZellweger syndrome ingafunyanwa ngaphambi kokuba umntwana azalwe?

Ewe, kwezinye iimeko kunokwenzeka. Ukuba bobabini abazali baziwa ngokuba ngabathwali be-'PEX' gene enesiphene, umntwana usemngciphekweni wokufumana le meko. Kwimeko enjalo, oogqirha banokujonga imeko ngokwenza uvavanyo lwegazi okanye iiskeni ngelixa umntwana esakhula esibelekweni.

Ziziphi iingxaki zeZellweger syndrome?

Iintsana ezinale meko zisenokungakwazi ukuva, ukubona, okanye ukutya. Ukuba izihlunu zazo azikhulanga kakuhle, zisenokungakwazi nokushukuma. Amaxesha amaninzi, ezi zingane ziba neengxaki ezinkulu ezifana nobunzima bokuphefumla, ukungasebenzi kakuhle kwesibindi, okanye ukopha kwindlela yokugaya ukutya .

Iphathwa njani iZellweger syndrome?

Ngelishwa, akukho nyango okanye unyango lwe-Zellweger syndrome . Ezinye iindlela zonyango zinokunceda ekunciphiseni iimpawu kwaye zenze umntwana azive ekhululekile kancinci. Nangona kunjalo, akukho ndlela yokunyanga unobangela oyintloko wale meko.

Umzekelo, ukuba umntwana unengxaki yokutya, kungasetyenziswa ityhubhu yokumtyisa. Nangona kunjalo, oku akusoze kumvumele umntwana ukuba atye ngendlela eqhelekileyo eyedwa. Injongo ephambili yonyango kukwenza umntwana angabi nantlungu kwaye angabi nantlungu kangangoko kunokwenzeka.

Liyintoni ikamva leentsana ezine-Zellweger syndrome?

Kubuhlungu ukuva oku, kodwa iintsana ezine-Zellweger syndrome zihlala ziphila ngaphantsi kweenyanga ezili-12 . Oko kuthetha ukuba azifane ziphile de zibe nonyaka ubudala. Nangona kunjalo, abantwana abanezinye izifo kwi-Zellweger spectrum, ezifana nesifo seRefsum okanye isifo seHeimler, banobomi obungcono kakhulu. Banokuphila de babe ngabantu abadala.

Ngaba i-Zellweger syndrome ingathintelwa?

Ngelishwa, akukho ndlela yokuthintela oku kuba yimeko yemfuza. Nangona kunjalo, ukuba umntu kusapho lwakho ukhe waba neZellweger syndrome okanye ezinye iimeko ezikwi-spectrum, ingcebiso yemfuza inokuba luncedo.Ungacinga ngokuyifumana. Umcebisi ngezemfuza unokuvavanya umngcipheko wakho wokudlulisela esi sifo kubantwana bakho okanye kubazukulwana bakho.

Kuthekani ukuba ndinotshintsho kwizakhi zofuzo zam olunxulumene ne-Zellweger syndrome?

Ukuba ufumanisa ukuba ungumthwali wezakhi zofuzo ezinxulumene nesi sifo, ingcebiso ngezakhi zofuzo ibaluleke kakhulu. Ngale ndlela, unokuvavanya iingozi ojongene nazo ekubeni nabantwana.

Kwakhona, ukuba unomntwana one-Zellweger syndrome, iqela leengcali zeentsana ezisandul’ ukuzalwa ( oogqirha abagxile kwiintsana ezisandul’ ukuzalwa) liza kukunceda ukhethe isicwangciso sokhathalelo esifanelekileyo somntwana wakho. Musa ukuba wedwa ngeli xesha, fumana inkxaso koogqirha bakho nakusapho lwakho.

Okokugqibela, izinto ekufuneka uzikhumbule

I-Zellweger Syndrome (ZS) sisifo esingaqhelekanga nesinzima semfuza esichaphazela iintsana ezisandul’ ukuzalwa. Singonakalisa amalungu abalulekileyo anjengesibindi, izintso kunye nengqondo. Iintsana ezinale meko azifane ziphile zingaphaya konyaka omnye ubudala.

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Nangona kungekho ndlela ithile yokunyanga oku, kukho unyango lokulawula iimpawu nokwenza umntwana akhululeke kangangoko. Ukuba kukho nabani na kusapho lwakho oye wakha wanayo le meko, funa ingcebiso ngemfuza. Kwakhona, abazali abajongene nale meko bafuna inkxaso ephezulu yoogqirha kunye nosapho.

Ndiyathemba ukuba olu lwazi luluncedo kuwe. Kubaluleke kakhulu ukuba wonke umntu azi ngale nto.

I- Zellweger Syndrome, isifo semfuza, usana olusandul' ukuzalwa, ii-peroxisomes, ii-PEX genes, isifo esingaqhelekanga, impilo yomntwana, izifo zemfuza