Ngaba umntwana wakho unale meko ingaqhelekanga? Masifunde ngeShwachman-Diamond syndrome (SDS)

Ngaba umntwana wakho omncinci uhlala egula? Akatyebi? Okanye ngaba ubona naluphi na utshintsho emathanjeni akhe? Ngamanye amaxesha, oku kusenokubangelwa yiShwachman-Diamond syndrome (SDS), imeko engaqhelekanga yemfuza echaphazela abantwana. Makhe sithethe ngale nto ngendlela elula onokuyiqonda.

Yintoni iShwachman-Diamond syndrome (SDS)?

Ngamafutshane, iShwachman-Diamond syndrome (SDS) sisifo esingaqhelekanga semfuza esichaphazela kakhulu ipancreas, umongo wamathambo kunye namathambo ebantwaneni. Sihlala sichongwa ngaphambi kokuba umntwana abe nonyaka omnye ubudala. Nangona kunjalo, ngamanye amaxesha sinokuchongwa kubantu abadala abancinci.

I-SDS sisifo esinzima ukusixilonga nokusinyanga kuba sinokubangela iimpawu ezahlukeneyo. Umntwana unokuba nenye, ezininzi, okanye zonke ezi mpawu. Umzekelo, umntwana omnye unokuba neengxaki zepancreas kunye namathambo, ngelixa omnye umntwana enokuba neengxaki zomongo wamathambo kunye namathambo kuphela.

Kwakhona sisifo esingachazekiyo . Iimpawu zabantwana zinokuba buthathaka okanye zibe nzima. Ezi mpawu zinokutshintsha ngokuhamba kwexesha. Ngenxa yokuba abantwana abane-SDS baneengxaki ezahlukeneyo zempilo, abantwana abaninzi bafuna uncedo lweqela leengcali . Nangona abantwana abanale meko baya kufuna unyango lobomi bonke, banokuphila ubomi obuqhelekileyo. Nangona kunjalo, abanye abantwana kunye nabantu abadala abancinci banokuba nomhlaza wegazi osongela ubomi (i-Acute Myeloid Leukemia) okanye isifo segazi esibi (i-Myelodysplasia).

Ingaba le yimeko eqhelekileyo?

Kunzima ukuqiniseka. Oogqirha bacinga ukuba iShwachman-Diamond syndrome yimeko engaqhelekanga. Kodwa kukho uqikelelo oluqikelelweyo lwenani labantwana abanale meko. Ezinye uqikelelo zibeka le meko kumntu omnye kwabangama-75,000 abazelweyo . Isizathu solu qikelelo oluqikelelweyo kukuba abantwana banokuba neempawu ezincinci okanye ezinzima, ayingabo bonke abantwana abaneempawu ezifanayo, kwaye akukho vavanyo lunye olucacileyo lokufumanisa le meko.

Ngaba abantu abadala nabo banesifo seShwachman-Diamond syndrome (SDS)?

Ngokungafaniyo nezinye iingxaki zempilo zabantwana, i-Shwachman-Diamond syndrome ayipheli njengoko abantwana bekhula. Iimpawu kunye nonyango zinokutshintsha ngokuhamba kwexesha, kodwa abantwana abanale meko baya kufuna unyango lobomi bonke .

Le meko ichaphazela njani umzimba womntwana wam?

I-Shwachman-Diamond syndrome inokubangela iingxaki ezininzi zempilo, kodwa kukho iziphumo ezintathu eziphambili:

1. Ukungasebenzi kakuhle kwe-pancreatic exocrine:I-pancreas yomntwana wakho sisitho esifumaneka ngasemva kwesisu. Siqulethe uhlobo lweseli olubizwa ngokuba zii-acinar cells. Ezi seli zivelisa ii-enzymes ezinceda ekugayeni ukutya. Ezi enzymes ziqhekeza izondlo kunye namafutha ekutyeni ukuze umzimba ukwazi ukuzifunxa. Kubantwana abane-SDS, i-pancreas ayivelisi ngokwaneleyo ezi enzymes. Ngenxa yoko, umntwana akafumani izondlo azidingayo.

2. Umsebenzi womongo wethambo ongasebenzi kakuhle: Umongo wethambo lomntwana wakho uvelisa iiseli ezibomvu zegazi, iiseli ezimhlophe zegazi, kunye neeplatelets. Kubantwana abane-SDS, umongo wethambo uvelisa iiseli ezimbalwa kunesiqhelo. Ngokukodwa, awuvelisi ngokwaneleyo uhlobo lweseli emhlophe yegazi ebizwa ngokuba yi-neutrophils . Ii-neutrophils ziiseli ezihlala zikhusela umzimba kubahlaseli abafana neebhaktheriya. Abanye abantwana abane-SDS abanazo ii-neutrophils ezaneleyo zokulwa naba bahlaseli bebhaktheriya. Le meko ibizwa ngokuba yi -neutropenia . Abantwana abane-neutropenia badla ngokuba nosulelo lwebhaktheriya olufana ne-pneumonia, usulelo lwendlebe ephakathi, okanye usulelo lwesikhumba.

3. Ukuphazamiseka kwamathambo: Abantwana abane-SDS banokuba neemeko ezifana ne-scoliosis, ukufinyela okungaqhelekanga kwamathambo ezingalweni nasemilenzeni (i-chondrodysplasia), okanye isifuba esincinci ngendlela engaqhelekanga, esimile okwentsimbi (i-thoracic dystrophy).

Ziziphi iingxaki zeShwachman-Diamond syndrome (SDS)?

Abantu abanale meko basengozini enkulu yokuba neeseli zegazi ezingaqhelekanga (`(myelodysplasia)`) . Ezi zinokukhula kamva zibe ngumhlaza wegazi obizwa ngokuba yi`(acute myeloid leukemia)` .

Zithini iimpawu zeShwachman-Diamond syndrome (SDS)?

Le meko inokuchaphazela iindawo ezininzi zomzimba womntwana. Kodwa ezona mpawu zixhaphakileyo ziquka i-pancreas, umongo wamathambo, kunye nenkqubo yamathambo. Abanye abantu banokufumana iimpawu ekuzalweni, ngexesha lobuntwana, okanye ebuntwaneni. Inani elincinci labantu linokufumana iimpawu xa beselula.

Iimpawu eziqhelekileyo:

• Ukungaphumeleli ukukhula: Oku kuthetha ukuba umntwana wakho akatyebi. Kwimeko ye-SDS, oku kusenokubangelwa kukungagaywa kakuhle kwesisu.
• Ukudinwa: Usana oludiniweyo lusenokuba nomsindo kwaye luphelelwe ngamandla.
• Indle enkulu, enamafutha, nenuka kakubi: Indle yomntwana wakho isenokuba nkulu ngokungaqhelekanga, ibukeka inamafutha, kwaye inevumba elibi.
• Usulelo olunzima oluphindaphindayo: Ukuba usulelo lweebhaktheriya luqhubeka lusenzeka, lusenokuba luphawu lwe-SDS.
• Utshintsho olubonakalayo emathanjeni eengalo nemilenze: Iingalo nemilenze yeentsana zisenokuba mfutshane xa zithelekiswa nomzimba wazo.

Yintoni ebangela iShwachman-Diamond syndrome (SDS)?

Malunga ne-90% yabantwana abane-SDS banotshintsho kwi-gene ye-`SBDS` . Izifundo zibonise ukuba olu tshintsho lunokufunyanwa kubazali bobabini (`(autosomal recessive manner)`) okanye kumzali omnye kwaye utshintsho olutsha luyenzeka. Abaphandi abasazi ukuba kutheni utshintsho kwi-gene ye-`SBDS` lubangela i-SDS.

Oogqirha bayixilonga njani le meko?

Oogqirha baza kwenza uvavanyo lomzimba ukuvavanya impilo yomntwana wakho iyonke. Baza kulinganisa ubude nobunzima bomntwana wakho baze babathelekise nesantya sokukhula kwabanye abantwana abaneminyaka yabo. Banokwenza nolu vavanyo lulandelayo:

• Ubalo lwegazi olupheleleyo (CBC) olunomahluko: Oku kubala iiseli zegazi zomntwana, ingakumbi zonke iiseli zegazi ezimhlophe.
• Uvavanyo lokusebenza kwepancreas: Oogqirha banokuhlalutya iisampulu zendle yomntwana wakho okanye benze uvavanyo lwemifanekiso olufana ne-computed tomography (CT) scans.
• Uvavanyo lwegazi ukujonga amanqanaba eevithamini.
• Ii-X-reyi: Ii-X-reyi zingathathwa ukuze kuhlolwe iingxaki zamathambo, ingakumbi ezinqeni okanye emilenzeni yomntwana.
• Uvavanyo lwemfuza: Ukuze kuchongwe utshintsho lwemfuza olubangela i-SDS, oogqirha bahlalutya iisampulu zegazi lomntwana, ulusu, iinwele, okanye izicwili ukuqinisekisa ukuba umntwana unale meko.

Inyangwa njani le meko?

I-Shwachman-Diamond syndrome inokuchaphazela umntwana wakho ngeendlela ezininzi. Umzekelo, umntwana usenokungakwazi ukugaya ukutya ngenxa yeengxaki zepancreas, kodwa umongo wakhe wethambo unokusebenza ngokuqhelekileyo. Iimpawu zinokuba zincinci okanye zibe nzima. Oogqirha banyanga olu tshintsho ngokusekelwe kubukhali bemeko.

Ngokungabikho ngokwaneleyo kwe-pancreatic exocrine:

Oogqirha banokunika ii-enzymes zepancreas ezithethwa ngomlomo okanye iivithamini ezinyibilikayo kumafutha ukunceda umzimba womntwana wakho ufunxe izondlo namafutha.

Xa umongo wethambo ungasasebenzi kakuhle:

Ngenxa yokuba le meko ichaphazela umongo wethambo lomntwana, umongo wethambo awuvelisi ii-neutrophils ezaneleyo. Oogqirha abadli ngokunyanga iingxaki zomongo wethambo ngaphandle kokuba umntwana uneengxaki ezinkulu. Unyango lunokuquka:

• Utofelo-gazi: Ukunyusa amanqanaba eeseli zegazi.
• Utofelo-gazi oluvela kwi-platelet: Lunyusa amanqanaba e-platelet ukunceda kwiingxaki zokopha.
• I-Granulocyte-colony stimulating factor (G-CSF) : Olu nyango lonyusa inani lee-neutrophils kwiiseli ezimhlophe zegazi zomntwana.
• Ukufakelwa kweeseli zesiqu: Abanye abantu abane-SDS baba nomhlaza wegazi okanye iingxaki zegazi ezinzulu. Oogqirha banokunyanga ezi meko ngokufakelwa kweeseli zesiqu.

Kwiingxaki zenkqubo yamathambo:

Oogqirha badla ngokujonga iingxaki zamathambo ezibangelwa yi-SDS. Abanye abantwana banokufuna utyando lwamathambo ukuba baneengxaki ezinkulu.

Ngoobani iingcali zonyango ezinyanga le meko?

Iqela leengcali liyafuneka ukunyanga iShwachman-Diamond syndrome. Iqela lonyango lomntwana wakho lingaquka:

• Iingcali zabantwana: Aba gqirha banyanga iintsana ezisandul’ ukuzalwa, abantwana, kunye nabantu abadala abaselula. Ugqirha wezingane womntwana wakho usenokucebisa uvavanyo ukuqinisekisa ukuba kukho i-SDS.
• Iingcali ze-Endocrinologists: Aba ngabantu abanolwazi kwinkqubo ye-endocrine, echaphazela ukukhula komntwana.
• Iingcali zegazi: Aba ngabantu abaziingcali kwizifo zegazi, kuquka neengxaki ezichaphazela iiseli zegazi zomntwana.
• Iingcali zeGastroenter: Aba gqirha banokunceda ukunyanga iingxaki zenkqubo yokugaya ukutya komntwana wakho.
• Iingcali zemfuza: I-Shwachman-Diamond syndrome yimeko yemfuza. Aba gqirha, okanye abacebisi bemfuza, baya kulungiselela uvavanyo lwemfuza ukuqinisekisa imeko yomntwana wakho. Banokukuvavanya wena kunye nezinye izalamane zegazi zomntwana wakho.
• Iingcali zamathambo: Ukuba umntwana wakho uneengxaki zamathambo ezifuna utyando, kuya kufuneka ubone ingcali yamathambo.

Ndingayithintela le nto?

I-Shwachman-Diamond syndrome yimeko ezuzwe njengelifa . Ukuba uyazi ukuba unayo le meko, kungcono ukuthetha nengcali yemfuza. Ukuba unabantwana abanale meko, ungacinga ngokuvavanya imfuza ukuze ubone ukuba abantwana bakho banayo na inguqu yemfuza ebangela i-SDS.

Ngaba iShwachman-Diamond syndrome (SDS) inganyangeka ngokupheleleyo?

Oogqirha abanakuyinyanga ngokupheleleyo le meko. Ukuba umntwana wakho unale meko, uya kufuna unyango ubomi bakhe bonke.

Kunjani ukuphila neShwachman-Diamond syndrome (SDS)?

Ngandlela thile, iShwachman-Diamond syndrome yimeko engapheliyo . Ukuba umntwana wakho unale meko, kuya kufuneka ahlolwe rhoqo kwaye ahlolwe.

• Ukubalwa kwegazi okupheleleyo (i-CBC) kunye nokubalwa kweeseli ezimhlophe zegazi, ukubalwa kweeplatelet: Oogqirha banokwenza olu vavanyo rhoqo kwiinyanga ezintathu ukuya kwezintandathu.
• Uvavanyo lomongo wethambo: Iingcali zegazi zingenza olu vavanyo kube kanye ngonyaka okanye kube kanye kwiminyaka emithathu.
• Uvavanyo lwegazi lweevithamini: Oogqirha banokulinganisa ubungakanani beevithamini egazini lomntwana ukuze babone ukuba unyango lwee-enzyme zepancreas luyasebenza na.
• I-Bone densitometry: Oogqirha banokuvavanya uxinano lwamathambo ngaphambi nangexesha lokufikisa.
• Ii-X-reyi: Ii-X-reyi zingenziwa ukujonga iingxaki ezinqeni nasemadolweni omntwana wakho, ingakumbi ngamaxesha okukhula ngokukhawuleza.
• Uvavanyo lophuhliso: Abanye abantwana abane-SDS banokuba neengxaki zophuhliso, ezifana nokuphazamiseka kokungakwazi ukunikel’ ingqalelo (ADD). Oogqirha banokuhlola uphuhliso rhoqo emva kweenyanga ezintandathu ukususela ekuzalweni ukuya kwiminyaka emi-6 ubudala, kunye nokukhula rhoqo emva kweenyanga ezintandathu.
• Uvavanyo lwe-neuropsychological kunye novavanyo: I-SDS inokukhokelela kwiimeko ezifana ne-attention deficit disorder (ADD) okanye i-pervasive developmental disorder (PDD). Oogqirha banokucebisa uvavanyo oluqhelekileyo kwiminyaka eyi-6-8, 11-13, kunye ne-15-17.

Ndingamnceda njani umntwana wam ukuba ajongane nale meko?

Abantwana abanale meko banokuba neengxaki ezahlukeneyo zempilo. Basenokufuna unyango olubanceda bafunxe izondlo namafutha. Banamathuba amaninzi okufumana usulelo. Basenokuba neengxaki zamathambo ezibenza babonakale bahlukile kwabanye.

Nokuba zithini na iimpawu, abantwana abanale meko banokuba nenkxalabo efanayo - yokuba bahlukile kwabanye . Basenokufuna unyango olubagcina bengayi esikolweni nakwezinye izinto. Inkangeleko yabo inokutshintsha. Njengoko umntwana wakho ekhula, olu tshintsho lunokumenza abe nomsindo kwaye adideke. Ukuqonda ezi mvakalelo kunokunceda umntwana wakho alawule iimvakalelo zakhe. Abanye abantwana banokuzuza ngokuthetha nogqirha wezempilo yengqondo. Ukuba ukhathazekile ngendlela umntwana wakho ahlangabezana ngayo nale meko, cela iingcebiso kugqirha wakho.

Ndifanele ndimbone nini ugqirha?

Ukuba umntwana wakho uneShwachman-Diamond syndrome, kufuneka uzame ukuqaphela utshintsho emzimbeni womntwana wakho . Iimpawu ze-SDS zihlala zitshintsha ngokuhamba kwexesha. Kwezinye iimeko, olu tshintsho lunokuba ziimpawu zeengxaki ezinkulu, kuquka nomhlaza wegazi.

Imizimba yabantwana itshintsha rhoqo njengoko bedlula ebuntwaneni, ebuntwaneni, ebusheni (ingakumbi ebusheni nasekufikiseni), kunye nasebudaleni. Olu tshintsho alusoloko luphawu lwesifo esitsha okanye imeko embi kakhulu.

Umntwana wakho unexesha eliqhelekileyo lokubonana nogqirha.Ezo ntlanganiso zexesha eliqhelekileyo zezona xesha lifanelekileyo lokuba ubuze imibuzo malunga notshintsho olunokuba ziimpawu zengxaki enkulu ngakumbi.

Ndingayibuza yiphi imibuzo ugqirha wam?

I-Shwachman-Diamond syndrome yimeko engaqhelekanga. Usenokungazi nokuba unayo. Nazi ezinye zemibuzo onokuzibuza ugqirha wakho:

• Kutheni umntwana wam enale meko?
• Ingaba unesimo esincinci sale meko okanye esibi kakhulu?
• Le meko imchaphazela njani umntwana wam?
• Zithini iindlela zonyango?
• Ngaba iimpawu zomntwana wam ziya kuba zimbi ngakumbi?
• Ngaba abanye abantakwabo bomntwana wam kufuneka bahlolwe imfuza?
• Ngaba mna kunye nomnye umzali womntwana kufuneka senze uvavanyo lwemfuza?
• Ndingamnceda njani umntwana wam ukuba alawule unyango?

Okokugqibela, eyona nto ibalulekileyo (Umyalezo Wokuya Ekhaya)

I-Shwachman-Diamond syndrome yimeko engaqhelekanga, ezuzwe njengelifa echaphazela ukukhula kwabantwana, ukuchaphazeleka kusulelo lweentsholongwane, kunye nokungasebenzi kakuhle kwamathambo. Nangona abanye abantwana beneempawu ezincinci, bonke abantwana abanale meko baya kufuna unyango lobomi bonke. Ukuba umntwana wakho une-Shwachman-Diamond syndrome, ungaziva uxinezelekile kukungaqiniseki ngento eza kwenzeka kwixesha elizayo. Ukuba ukule meko, yabelana ngenkxalabo yakho noogqirha bomntwana wakho. Bayaqonda ukuba kunjani ukukhathazeka nokunyamekela umntwana onesifo esinzima, ngamanye amaxesha esingalindelekanga. Banokunceda umntwana wakho angapheleli nje ekumelaneni nesi sifo, kodwa nokubanceda baphile kakuhle. Kwaye bayavuya ukukunceda uncede umntwana wakho. Ungaze uzive unesizungu, kwaye ucele uncedo.

Isifo sikaShwachman -Diamond, i-SDS, ukungaqheleki kwemfuza, i-pancreas, umongo wamathambo, ukungaqheleki kwamathambo, izifo zabantwana, i-neutropenia