Ngaba isisu somntwana wakho sibonakala sidumbile kancinci? Okanye uvakalelwa kukuba umntwana wakho akakhuli ngesantya esifanelekileyo ngokweminyaka yakhe? Ngamanye amaxesha ezi zinto zinokuba zesiqhelo. Kodwa kunqabile kakhulu, zinokubangelwa sisifo esingaqhelekanga semfuza esingazange sive ngaso. Namhlanje, sithetha ngeSifo sikaNiemann-Pick, esikwesinye sezifo ezingaqhelekanga. Musa ukoyika xa usiva eli gama. Masithethe ngalo ngendlela elula onokuyiqonda.
Yintoni isifo sikaNiemann-Pick?
Ngamafutshane, isifo sikaNiemann-Pick sisifo esidluliselwa kwilifa esibangelwa kukuqokelelwa ngokungeyomfuneko kwezinto ezinamafutha, okanye ii-lipids, ngaphakathi kweeseli zomzimba wethu.
Ngoku usenokuba uzibuza, "Zithini ezi lipids? Kutheni ziqokelelana?" Masiyichaze ngolu hlobo.
Cinga ngeseli nganye emzimbeni wethu njengomzi-mveliso omncinci. Lo mzi-mveliso udinga amandla ukuze usebenze. Loo mandla avela ekutyeni esikutyayo. Amafutha (lipids) kunye neeproteni ezikukutya ziyaqhekeka zibe ziingceba ezincinci ngaphakathi kwiiseli zethu kwaye zisetyenziselwa ukuvelisa amandla. Ukongeza, ezi lipids (umzekelo, i-cholesterol kunye neeoyile) nazo ziyafuneka kwimisebenzi emininzi ebalulekileyo, njengokwakha iindonga zeeseli zethu kunye nokuvelisa iihomoni.
Ngokwesiqhelo, emzimbeni womntu ophilileyo, xa la mafutha ephelile, okanye ukuba maninzi kakhulu, kukho ii-enzymes ezikhethekileyo zokuwaqhekeza nokuwasusa emzimbeni. Njengenkqubo esusa inkunkuma kumzi-mveliso xa igqityiwe ukusebenza.
Kodwa kumntu onesifo sikaNiemann-Pick, kukho isiphene semfuza ekuvelisweni kwee-enzymes okanye iiproteni eziqhekeza ii-lipids endizikhankanyileyo. Ngenxa yoko, ii-lipids ezingasetyenziswayo nezingafunekiyo ziqala ukuqokelelana ngaphakathi kweeseli. Kufana nenqwaba yenkunkuma kumzi-mveliso onenkqubo yokulahla inkunkuma eyonakeleyo.
Ngale ndlela, ii-lipids aziqokeleleki kwindawo enye kuphela.
- Ingqondo
- Isibindi
- Ispleen
- Imiphunga
- Ummongo wethambo
Ezi zinto ziyaqokelelana ngaphakathi kwiiseli zezitho ezibalulekileyo ezifana nentliziyo. Ekuhambeni kwexesha, ezi lipids ziyaqokelelana kwaye zithintele ezo zitho ukuba zingasebenzi kakuhle. Kulapho ke iimpawu ziqala ukubonakala khona.
Ziziphi iimpawu eziphambili zesi sifo?
Iimpawu zinokwahluka ngokuxhomekeke kwilungu apho la mafutha afakwe khona. Iimpawu ziyahluka ngokuxhomekeke kuhlobo lwesifo. Nangona kunjalo, kukho iimpawu ezininzi eziqhelekileyo.
Iimpawu ze-Neurological
Ezi mpawu zibonakala xa ii-lipids zibekwe kwiiseli zobuchopho.
- I-Ataxia: Le yimeko apho izihlunu zomzimba zingakwazi ukulawula iintshukumo ezenziwe ngabom, njengokuhamba okanye ukufikelela kwinto ethile. Umzimba uziva ungazinzile kwaye ungazinzile.
- Ubuthathaka bemisipha:Umzimba uziva ungenabomi, kwaye imisipha iyancipha.
- Ukuxinana: Ngamanye amaxesha izihlunu ziyaqina zize zishukume. Ukushukuma kuba nzima kakhulu.
- Ubunzima bokuthetha: Amagama angaqondakaliyo, ukungakwazi ukuthetha ngokucacileyo.
- Ukuwohloka kancinci kancinci kokusebenza kwengqondo: Izinto ezifana nenkumbulo kunye nobuchule bokufunda zinokwehla ngokuhamba kwexesha.
Iimpawu ezinxulumene nezinye iindawo zomzimba
- Ukudumba kwesibindi kunye ne-spleen: Oku kudla ngokuba yenye yeempawu zokuqala ezibonakalayo. La malungu mabini ayakhula ngenxa yokugcinwa kwamafutha emzimbeni. Oku kubangela ukuba isisu somntwana siphume phambili size sibonakale sidumbile.
- Ubunzima bokuginya nokusela: Le meko ichaphazela kakhulu abantwana abancinci.
- Utshintsho kwiintshukumo zamehlo: Kunokubakho ubunzima bokujonga phezulu nasezantsi.
- Utshintsho lwe-cornea: I-cornea inokuba namafu.
- Ibala elibomvu njengetsheri: Olu luphawu oluthile. Xa ugqirha ehlola iliso, banokubona ibala elibomvu elifana netsheri embindini we-retina. Oku akwenzeki kuwo wonke umntu, kodwa abanye abaguli bayenzeka.
Into ebalulekileyo kukuba ezi mpawu azibonakali ngequbuliso. Zikhula kancinci kancinci. Ngoko ke, ukuba unamathandabuzo, kubaluleke kakhulu ukubona ugqirha ofanelekileyo ngokukhawuleza kwaye ucele ingcebiso.
Kukho iintlobo ezintathu eziphambili zesi sifo.
Isifo sikaNiemann-Pick asifani sonke. Kukho iintlobo ezintathu eziphambili (kwaye zingaphezulu kwezinye iindidi). Uhlobo ngalunye lunezizathu ezahlukeneyo, iimpawu, kunye nendlela esihamba ngayo esi sifo. Masisebenzise itheyibhile ukusinceda siqonde umahluko.
| Uhlobo lwesifo | Iimpawu eziphambili kunye nendalo | Isizathu |
|---|---|---|
| Uhlobo A |
| Umsebenzi onganeleyo we-enzyme i-sphingomyelinase. Le enzyme iqhekeza i-lipid sphingomyelin. |
| Uhlobo B | Unobangela ufana nohlobo A. Oko kukuthi, umsebenzi we-enzyme ye-sphingomyelinase uyancipha. Nangona kunjalo, kule meko, xa kuthelekiswa nohlobo A, umsebenzi othile we-enzyme usasele. | |
| Uhlobo C | Isizathu asikokuba yi-enzyme. Kukunqongophala kwenye yeeproteni ezimbini ezibizwa ngokuba yi-NPC1 okanye i-NPC2. Ezi proteni zithutha i-cholesterol kunye nezinye ii-lipids ngaphakathi kweeseli. |
Inqaku elincinci malunga nohlobo D
Ngaphambili, izigulane ezinesifo sohlobo C, ezazivela kuokhokho omnye kummandla waseNova Scotia eKhanada, zazibizwa ngokuba yi-type D. Kodwa ngoku siyazi ukuba sisifo esikwisifo sohlobo C, kwaye sibangelwa sisiphene esithile kwi-NPC1 gene.
Ngaba ikhona indlela yokunyanga oku?
Ukwazi impendulo yalo mbuzo kubaluleke kakhulu kuwe nakubo bonke abantu. Inyaniso kukuba, ukuza kuthi ga ngoku, akukho nyango lwesifo sikaNiemann-Pick.
Ngoko ke oogqirha benza ntoni?
Unyango lwangoku lunyango oluxhasayo . Oko kukuthi, nangona isifo singenakunyangwa, silawula iimpawu, sinike isigulana intuthuzelo kangangoko kunokwenzeka, kwaye sincede ekwenzeni ubomi bube lula.
- Ukukhuselwa kwizifo: Aba baguli, ingakumbi abantwana, bathambekele ekusulelekeni rhoqo. Ngoko ke, kubaluleke kakhulu ukubakhusela kwizifo ezifana ne-pneumonia.
- Isondlo: Abantwana abanengxaki yokuginya banokufuna ukondliwa ngetyhubhu yokondla.
- Unyango lweFiziyoloji: Ukuzilolonga kunye nonyango lomzimba kunokunceda ukulawula ukuqina kwemisipha (ukuxinana) kunye nokugcina amalungu esebenza kakuhle.
- Unyango lobunzima bokuphefumla: Ukuba imiphunga iyachaphazeleka, njengakwizigulane zohlobo B, kunokufuneka ioksijini eyongezelelweyo.
Unyango lovavanyo
- Ukufakelwa komongo wethambo: Oku kuye kwazanywa kwizigulana ezimbalwa ezinesifo sohlobo B, kodwa akukabi lonyango oluqhelekileyo.
- Unyango lokutshintshwa kwee-enzyme kunye nonyango lwezakhi zofuzo: Izazinzulu zinethemba lokuba olu nyango luya kuba luncedo kwizigulane zohlobo B kwixesha elizayo, kodwa ezi zisesekwinqanaba lophando.
Abantu abaninzi bacinga ukuba ngokulawula ukutya kwabo nokunciphisa ukutya okunamafutha, banokumisa ukuqokelelwa kwala ma-lipid. Kodwa inyani yile, ukutshintsha ukutya kwabo akunakumisa ukuqokelelwa kwamafutha ngaphakathi kweeseli. Kuba ingxaki ayikho kumafutha asetyenziswa ngaphandle, kodwa kwinkqubo eyenzeka ngaphakathi kweeseli ngenxa yesiphene semfuza emzimbeni.
Ungathini ngekamva? (Ingqikelelo)
Le yingongoma ebucayi kakhulu ekufuneka ithethwe ngayo. Ikamva lesigulana, okanye ikamva laso, lixhomekeke ngokupheleleyo kuhlobo lwesifo.
- Uhlobo A: Njengoko bekutshiwo ngaphambili, olu lolona hlobo lunzima kakhulu. Iintsana ezinale meko zihlala zifa ziseziintsana, zingekafiki kwiminyaka emi-2-3 ubudala, ngenxa yosulelo okanye ukungasebenzi kakuhle kwenkqubo yemithambo-luvo.
- Uhlobo B: Aba baguli banokuphila ubomi obude. Abanye baphila baze babe ngabantu abadala. Nangona kunjalo, ngenxa yomonakalo wemiphunga, banokufuna ulwalathiso lwezonyango ubomi babo bonke kwaye ngamanye amaxesha bafune inkxaso yeoksijini.
- Uhlobo C:Kunzima kakhulu ukuqikelela ikamva lesi sifo, kuba ubudala apho iimpawu zibonakala khona kunye nendlela esiqhubeka ngayo esi sifo ziyahluka kakhulu kumntu nomntu. Abanye abantwana bafa besebancinci, ngelixa abo baneempawu zokuqala emva kwexesha kunye namatyala angemabi kangako banokuphila bade babe ngabantu abadala.
Umyalezo Wokuya Ekhaya
- Isifo sikaNiemann-Pick sisifo esingaqhelekanga kakhulu, esizuzwe njengelifa esibangela ukuqokelelwa kwezinto ezinamafutha (lipids) ngaphakathi kweeseli zomzimba.
- Kukho iintlobo ezintathu eziphambili zale meko (A, B, kunye no-C). Uhlobo A lolona lunzima kakhulu. Uhlobo B luchaphazela kakhulu imiphunga nesibindi, ngelixa uhlobo C luchaphazela kakhulu inkqubo yemithambo-luvo.
- Iimpawu ezinje ngokudumba kwesisu (isibindi/ipleyini ekhulayo), ubunzima bokuhamba, kunye nokukhula okukhawulezileyo kunokubonakala ekuqaleni.
- Akukho nyango lwale sifo okwangoku. Okwenziweyo kukulawula iimpawu nokubonelela ngesiqabu kwisigulana.
- Ukuba unesikrokro sokuba umntwana wakho unenye yezi mpawu, musa ukoyika kwaye ubone ugqirha wezingane ofanelekileyo okanye omnye ugqirha ngokukhawuleza.
- Uphando ngezifo ezingaqhelekanga ezifana nezi lwenzeka kwihlabathi liphela. Masithembe ukuba kuza kuvela unyango olungcono kwixesha elizayo.
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