Ingabe ingane yakho inalezi zimpawu? Ake sifunde nge-Zellweger Syndrome

Uma sibheka umntwana osanda kuzalwa, izinhliziyo zethu zigcwele injabulo, akunjalo? Kodwa ngezinye izikhathi, nakuba kungavamile kakhulu, ezinye izingane ziza kuleli zwe zinezinkinga ezithile zempilo lapho zizalwa. I-Zellweger Syndrome iyisimo esingavamile nesingathi sína sofuzo esithinta izingane ezisanda kuzalwa. Ungase ukhathazeke uma uzwa leli gama, kodwa ake sixoxe ngalo kalula futhi siliqonde.

Iyini i-Zellweger Syndrome?

Kalula nje, i-Zellweger Syndrome iyisifo sofuzo esenzeka ezinganeni ezisanda kuzalwa. Odokotela basibiza ngokuthi yisifo esibi kakhulu kwezifo ezine eziku-Zellweger spectrum. Sithinta uhlelo lwezinzwa kanye ne-metabolism (inqubo yokuguqula ukudla kube amandla) ngokushesha nje ngemva kokuzalwa. Singalimaza ubuchopho, isibindi, kanye nezinso ikakhulukazi. Singathinta nemisebenzi eminingi ebalulekile emzimbeni. Elinye igama lalokhu yi-cerebrohepatorenal syndrome. Eqinisweni, lesi simo sivame ukuba sibi kakhulu, okusho ukuthi singasongela impilo.

Ziyini izifo ze-Zellweger Spectrum Disorders (ZSDs)?

Lezi zibizwa nangokuthi 'izinkinga ze-peroxisomal biogenesis'. Lezi zifo zithinta izingxenye zamaseli ethu ezibizwa ngokuthi 'ama-peroxisome'. Lawa 'ma-peroxisome' abalulekile emisebenzini eminingi emzimbeni wethu.

Ezinye izifo ezitholakala ku-Zellweger spectrum yilezi:

• I-Heimler syndrome: Lokhu kubangela ukulahlekelwa ukuzwa nezinkinga zamazinyo ezinganeni ezinezinyanga ezimbalwa noma ezincane kakhulu.
• Isifo se-Infantile Refsum: Lokhu kubangela ukuthi imisipha yengane ingasebenzi kahle futhi kulibazise ukukhula kwayo, njengokuqala ukuhamba.
• I-adrenoleukodystrophy yezingane ezisanda kuzalwa: Lokhu kubangela ukulahlekelwa ukuzwa nokubona. Kubangela nezinkinga ebuchosheni bomntwana, emgogodleni, kanye nemisipha.

Ubani othola i-Zellweger syndrome?

Lokhu kubangelwa izinguquko ezithile (ukuguqulwa kwezakhi zofuzo). Uma sikhuluma iqiniso, lokhu kuyisifo esibangelwa yi-autosomal recessive disorder. Lokhu kusho ukuthi umntwana uzothola lesi sifo kuphela uma ezuza ifa lezakhi zofuzo ezinephutha kumama nakubaba .

Cabanga ngalokhu, uma bobabili abazali "bengabathwali" balesi sakhi sofuzo esingasebenzi kahle (okusho ukuthi abanaso lesi sifo, kodwa banaso), izingane zabo zizokwenza lokhu:

• Kunethuba elingu-50% lokuthi bazoba ngabathwali bezimpahla.
• Kunethuba elingama-25% lokuzalwa nalesi sifo.
• Kunethuba elingama-25% lokuzalwa uphilile futhi ungenalo ijini.

Ivame kangakanani i-Zellweger syndrome?

Lokhu akuvamile kakhulu.Isifo. Uma sihlanganiswa nezinye izifo ze-Zellweger spectrum, lezi zimo zenzeka cishe koyedwa kwabangu-50,000 kuya koyedwa kwabangu-75,000 abasanda kuzalwa. Ngakho awuvamile ukuzwa ngaso.

Yini ebangela i-Zellweger syndrome?

Lokhu kubangelwa ukuguquka kwesinye sezakhi zofuzo ezingu-12 esibizwa ngokuthi i-'PEX' gene. Imbangela evame kakhulu yalesi simo ukuguquka kwezakhi zofuzo ze-'PEX1'. Lawa mazakhi zofuzo alawula 'ama-Peroxisome', abalulekile ekusebenzeni okuvamile kwamaseli ethu.

Ama-peroxisome afana nezimboni ezincane ngaphakathi kwamaseli. Aphula ubuthi namafutha ayingozi emzimbeni. Adlala indima enkulu ekuthuthukisweni kwezingxenye ezilandelayo zomzimba wethu:

* Amathambo

* Ubuchopho

* Amehlo

* Inhliziyo

* Izinso

* Isibindi

* Imizwa

Ngakho-ke cabanga, uma lawa 'ma-peroxisome' engasebenzi kahle, athinta zonke izitho kanye nazo zonke izinhlelo.

Ziyini izimpawu ze-Zellweger syndrome?

Lezi zimpawu zivame ukubonakala cishe ngokushesha ngemva kokuzalwa komntwana. Ikakhulukazi, odokotela baqaphela izici ezithile ebusweni bomntwana . Lezi yizi:

• Ibhuloho lekhala libanzi.
• Indawo lapho kugoqwa khona isikhumba (ama-Epicanthal folds) emakhoneni angaphakathi kwamehlo.
• Ukuthambisa ubuso.
• Isikhundla sebunzi eliphezulu.
• Izinkophe azikhuli kahle.
• Ibanga elikhulayo phakathi kwamehlo (amehlo abonakala eqhelelene kakhulu).

Ngaphezu kwalezi zici zobuso, ezinye izimpawu zingase zihlanganise:

• Ubunzima bokuncelisa: Ingane ayikwazi ukuncelisa kahle.
• Isibindi esikhulu kanye/noma udende: Lokhu kungabonakala lapho udokotela ehlola isisu.
• Ukopha kwamathumbu: Igazi lingase libe khona kanye nokuhlanza noma indle.
• Ukukhubazeka kokuzwa nokubona: Ingane ingase ingasabeli kahle emisindweni noma ngaphandle.
• I-Jaundice: Ukuphuzi kwamehlo nesikhumba ngenxa yokungasebenzi kahle kwesibindi.
• Ukuquleka: Kungase kube nezimo ezifana nokuquleka.
• Ukukhula kwemisipha okunciphile kanye nobunzima bokunyakaza: Izitho zomntwana zingase zibonakale zingakhuli kahle futhi zingahambi kahle.

I-Zellweger syndrome itholakala kanjani?

Ngokuvamile, ngokushesha nje lapho umntwana ezalwa, udokotela noma umhlengikazi uyasola lokhu lapho bebona izici ezithile ebusweni bomntwana. Bese benza izivivinyo ezilandelayo ukuqinisekisa ukuxilongwa:

• Ukuhlolwa kwegazi nomchamo:Uma kunezinto eziningi kakhulu egazini noma emchameni, ikakhulukazi ama-molecule amafutha, kungaba uphawu lwe-Zellweger syndrome. Ngenxa yokuthi ama-peroxisome awasebenzi kahle, lezi zinto azihlukaniswa kahle ngumzimba.
• Ukuskena: Ukuhlolwa kwe-'Ultrasound' kwenziwa ukuhlola usayizi wezitho zangaphakathi njengesibindi nezinso nokuthi zisebenza kanjani. Ukuskena kobuchopho kwe-'MRI' (Magnetic Resonance Imaging) nakho kubalulekile enkambisweni yokuxilonga.
• Ukuhlolwa kwezakhi zofuzo: Kungathathwa isampula yegazi ukuze kutholakale ukuthi kukhona yini izinguquko ezakhiweni zezakhi zofuzo ze-PEX. Yilokhu okuzoqinisekisa ukuxilongwa .

Ingabe i-Zellweger syndrome ingatholakala ngaphambi kokuba umntwana azalwe?

Yebo, kwezinye izimo kungenzeka. Uma bobabili abazali baziwa njengabathwali be-'PEX' gene enephutha, umntwana usengozini yokuthola lesi simo. Kuleso simo, odokotela bangahlola lesi simo ngokwenza ukuhlolwa kwegazi noma ukuskena ngenkathi umntwana esakhula esibelethweni.

Yiziphi izinkinga ze-Zellweger syndrome?

Izingane ezinalesi simo zingase zingakwazi ukuzwa, ukubona, noma ukudla. Uma imisipha yazo ingakhuli kahle, zingase zingakwazi ngisho nokunyakaza. Ngokuvamile, lezi zingane ziba nezinkinga ezinkulu njengobunzima bokuphefumula, ukwehluleka kwesibindi, noma ukopha endleleni yokugaya ukudla .

Iphathwa kanjani i-Zellweger syndrome?

Ngeshwa, akukho ukwelashwa noma ukwelashwa kwe-Zellweger syndrome . Ezinye izindlela zokwelapha zingasiza ekunciphiseni izimpawu futhi zenze ingane ikhululeke kakhudlwana. Kodwa-ke, ayikho indlela yokwelapha imbangela eyisisekelo yalesi simo.

Isibonelo, uma ingane inenkinga yokudla, ipayipi lokuyipha lingasetshenziswa. Kodwa-ke, lokhu ngeke kuvumele ingane ukuthi idle ngendlela evamile yodwa. Umgomo oyinhloko wokwelashwa ukwenza ingane ingabi nobuhlungu futhi ingabi nokungakhululeki ngangokunokwenzeka.

Liyini ikusasa lezingane ezine-Zellweger syndrome?

Kuyadabukisa ukuzwa, kodwa izingane ezine-Zellweger syndrome zivame ukuphila isikhathi esingaphansi kwezinyanga ezingu-12 . Lokho kusho ukuthi azivamile ukuphila kuze kube unyaka owodwa ubudala. Kodwa-ke, izingane ezinezinye izifo eziku-Zellweger spectrum, njengesifo se-Refsum noma i-Heimler syndrome, zinesikhathi sokuphila esingcono kakhulu. Zingase ziphile ngisho naze zibe ngabantu abadala.

Ingabe i-Zellweger syndrome ingavinjelwa?

Ngeshwa, ayikho indlela yokuvimbela lokhu ngoba kuyisimo sofuzo. Kodwa-ke, uma othile emndenini wakho eke waba ne-Zellweger syndrome noma ezinye izimo eziku-spectrum, ukwelulekwa ngofuzo kungaba usizo.Ungacabanga ukuyithola. Umeluleki wezakhi zofuzo angahlola ingozi yakho yokudlulisela lesi sifo ezinganeni zakho noma kubazukulu bakho.

Kuthiwani uma ngine-mutation ezizakhini zami zofuzo ezihlobene ne-Zellweger syndrome?

Uma uthola ukuthi ungumthwali wezakhi zofuzo ezihlobene nalesi sifo, ukwelulekwa ngezakhi zofuzo kubaluleke kakhulu. Ngale ndlela, ungahlola izingozi obhekene nazo ngokuba nezingane.

Futhi, uma unengane ene-Zellweger syndrome, ithimba lodokotela bezingane ezisanda kuzalwa ( odokotela abangochwepheshe ezinsaneni ezisanda kuzalwa) lizokusiza ukuthi ukhethe uhlelo lokunakekela ingane yakho olungcono kakhulu. Ungabi wedwa ngalesi sikhathi, thola ukwesekwa kodokotela bakho nomndeni wakho.

Okokugcina, izinto okufanele uzikhumbule

I-Zellweger Syndrome (ZS) iyisifo esingavamile nesingathi sína esithinta izinsana ezisanda kuzalwa. Singalimaza izitho ezibalulekile njengesibindi, izinso kanye nobuchopho. Izingane ezinalesi simo azivamile ukuphila iminyaka engaphezu konyaka.

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Nakuba kungekho ikhambi eliqondile lalokhu, kunezindlela zokwelapha zokulawula izimpawu nokwenza umntwana akhululeke ngangokunokwenzeka. Uma kukhona emndenini wakho onomlando walesi simo, funa ukwelulekwa ngofuzo. Futhi, abazali ababhekene nalesi simo badinga ukwesekwa okuphezulu kodokotela nomndeni.

Ngiyethemba ukuthi lolu lwazi luwusizo kuwe. Kubaluleke kakhulu ukuthi wonke umuntu aqaphele izinto ezinjalo.

I- Zellweger Syndrome, isifo sofuzo, izingane ezisanda kuzalwa, ama-peroxisome, izakhi zofuzo ze-PEX, isifo esingavamile, impilo yengane, izifo zofuzo