Ingabe ingane yakho inalesi simo esingavamile? Ake sifunde nge-Shwachman-Diamond syndrome (SDS)

Ingabe ingane yakho encane iyagula njalo? Ayikhuluphali? Noma ingabe ubona izinguquko emathanjeni ayo? Ngezinye izikhathi, lokhu kungaba ngenxa ye-Shwachman-Diamond syndrome (SDS), isimo esingavamile sofuzo esithinta izingane. Ake sixoxe ngalokhu ngendlela elula ongayiqonda.

Iyini i-Shwachman-Diamond syndrome (SDS)?

Kalula nje, i-Shwachman-Diamond syndrome (SDS) iyisifo esingavamile esithinta kakhulu ama-pancreas, umnkantsha wamathambo kanye namathambo ezinganeni. Sivame ukutholakala ngaphambi kokuba ingane ibe nonyaka owodwa ubudala. Kodwa-ke, ngezinye izikhathi singatholakala kubantu abadala abasebasha.

I-SDS iyisifo esiyinselele ukusixilonga nokwelapha ngoba singabangela izimpawu ezahlukahlukene. Ingane ingaba nesinye, eziningana, noma zonke lezi zimpawu. Isibonelo, ingane eyodwa ingaba nezinkinga ngama-pancreas namathambo, kanti enye ingane ingaba nezinkinga ngomnkantsha namathambo kuphela.

Futhi kuyisifo esingalindelekile . Izimpawu zezingane zingaba zincane noma zibe zimbi kakhulu. Lezi zimpawu zingashintsha ngokuhamba kwesikhathi. Ngenxa yokuthi izingane ezine-SDS zinezinkinga ezahlukene zezokwelapha, izingane eziningi zidinga usizo lweqembu lochwepheshe . Nakuba izingane ezinalesi simo zizodinga ukunakekelwa kwezokwelapha impilo yonke, ngokuvamile zingaphila impilo evamile. Kodwa-ke, ezinye izingane kanye nabantu abadala abasebasha bangaba nomdlavuza wegazi osongela ukuphila (i-Acute Myeloid Leukemia) noma isifo segazi esibi (i-Myelodysplasia).

Ingabe lesi yisimo esivamile?

Kunzima ukusho ngokuqinisekile. Odokotela babheka i-Shwachman-Diamond syndrome njengesimo esingavamile. Kodwa kunezilinganiso ezilinganiselwe kuphela zokuthi bangaki abantwana abanalesi simo. Ezinye izilinganiso zibeka lesi simo koyedwa kwabazalwa abangu-75,000 . Isizathu salokhu kulinganiselwa ukuthi izingane zingaba nezimpawu ezincane noma ezinzima, akuzona zonke izingane ezinezimpawu ezifanayo, futhi akukho ukuhlolwa okukodwa, okuqinisekile kokuthola lesi simo.

Ingabe abantu abadala nabo banesifo i-Shwachman-Diamond syndrome (SDS)?

Ngokungafani nezinye izinkinga zezokwelapha zasebuntwaneni, i-Shwachman-Diamond syndrome ayipheli njengoba izingane zikhula. Izimpawu kanye nokwelashwa kungashintsha ngokuhamba kwesikhathi, kodwa izingane ezinalesi simo zizodinga ukunakekelwa kwezokwelapha impilo yonke .

Lesi simo sithinta kanjani umzimba wengane yami?

I-Shwachman-Diamond syndrome ingabangela izinkinga eziningi zezokwelapha, kodwa kunemiphumela emithathu eyinhloko:

1. Ukuntuleka kwe-pancreatic exocrine:I-pancreas yengane yakho iyisitho esitholakala ngemuva kwesisu. Iqukethe uhlobo lweseli olubizwa ngokuthi amaseli e-acinar. Lawa maseli akhiqiza ama-enzyme asiza ekugayeni ukudla. Lawa ma-enzyme aphula izakhamzimba namafutha ekudleni ukuze umzimba ukwazi ukumunca. Ezinganeni ezine-SDS, i-pancreas ayikhiqizi lawa ma-enzyme anele. Ngenxa yalokho, ingane ayitholi izakhamzimba ezidingayo.

2. Umsebenzi womongo wethambo ongasebenzi kahle: Umongo wethambo wengane yakho ukhiqiza amangqamuzana abomvu egazi, amangqamuzana amhlophe egazi, nama-platelet. Ezinganeni ezine-SDS, umongo wethambo ukhiqiza amangqamuzana ambalwa kulawa ajwayelekile. Ikakhulukazi, awukhiqizi ngokwanele uhlobo lweseli elimhlophe legazi elibizwa ngokuthi ama-neutrophils . Ama-neutrophils amangqamuzana avame ukuvikela umzimba kubahlaseli abafana namagciwane. Ezinye izingane ezine-SDS azinawo ama-neutrophils anele okulwa nalaba bahlaseli bamagciwane. Lesi simo sibizwa ngokuthi i-neutropenia . Izingane ezine-neutropenia zivame ukuba nezifo zamagciwane ezifana ne-pneumonia, izifo zendlebe ephakathi, noma izifo zesikhumba.

3. Ukukhubazeka kwamathambo: Izingane ezine-SDS zingase zibe nezimo ezifana ne-scoliosis, ukufinyela okungavamile kwamathambo ezingalweni nasemilenzeni (i-chondrodysplasia), noma isifuba esincane ngendlela engavamile, esimise okwensimbi (i-thoracic dystrophy).

Yiziphi izinkinga ze-Shwachman-Diamond syndrome (SDS)?

Abantu abanalesi simo basengozini enkulu yokuthola amangqamuzana egazi angajwayelekile (`(myelodysplasia)`) . Lawa kamuva angakhula abe umdlavuza wegazi obizwa ngokuthi `(acute myeloid leukemia)` .

Ziyini izimpawu ze-Shwachman-Diamond syndrome (SDS)?

Lesi simo singathinta izingxenye eziningana zomzimba wengane. Kodwa izimpawu ezivame kakhulu zihlanganisa i-pancreas, umnkantsha wamathambo, kanye nohlelo lwamathambo. Abanye abantu bangase babe nezimpawu ekuzalweni, ngesikhathi sobuntwana, noma ebuntwaneni. Inani elincane labantu lingase libe nezimpawu lapho likhula.

Izimpawu ezivamile:

• Ukwehluleka ukukhula: Lokhu kusho ukuthi ingane yakho ayikhuli. Endabeni ye-SDS, lokhu kungase kube ngenxa yokungagaywa kahle kokudla.
• Ukukhathala: Umntwana okhathele angase acasuke futhi akhathale.
• Indle enkulu, enamafutha, enephunga elibi: Indle yengane yakho ingaba nkulu ngendlela engavamile, ibukeka inamafutha, futhi inephunga elibi.
• Ukutheleleka okungathi sína okuphindaphindiwe: Uma ukutheleleka ngamagciwane kuqhubeka, kungaba uphawu lwe-SDS.
• Izinguquko ezibonakalayo emathanjeni ezingalweni nasemilenzeni: Izingalo nemilenze yezingane zingase zibe zimfushane uma kuqhathaniswa nomzimba wazo.

Yini ebangela i-Shwachman-Diamond syndrome (SDS)?

Cishe ama-90% ezingane ezine-SDS anoguquko ku-gene ye-`SBDS` . Izifundo zibonise ukuthi lolu guquko lungazuzwa njengefa kubo bobabili abazali (`(autosomal recessive manner)`) noma kumzali oyedwa bese kuvela ushintsho olusha. Abacwaningi abasazi kahle ukuthi kungani izinguquko ku-gene ye-`SBDS` zibangela i-SDS.

Odokotela bakuthola kanjani lokhu?

Odokotela bazokwenza ukuhlolwa ngokomzimba ukuhlola impilo yengane yakho iyonke. Bazolinganisa ukuphakama nesisindo sengane yakho bese beqhathanisa nezinga lokukhula labanye abantwana abaneminyaka yabo. Bangenza futhi ukuhlolwa okulandelayo:

• Ukubalwa kwegazi okuphelele (i-CBC) okunomehluko: Lokhu kubala amangqamuzana egazi engane, ikakhulukazi wonke amangqamuzana egazi amhlophe.
• Ukuhlolwa kokusebenza kwe-pancreas: Odokotela bangase bahlaziye amasampula endle yengane yakho noma benze ukuhlolwa kwezithombe ezifana nokuskena kwe-computed tomography (CT).
• Ukuhlolwa kwegazi ukuhlola amazinga amavithamini.
• Ama-X-ray: Ama-X-ray angase athathwe ukuze kuhlolwe izinkinga zamathambo, ikakhulukazi ezinqeni noma emilenzeni yengane.
• Ukuhlolwa kwezakhi zofuzo: Ukuze kutholakale izinguquko zezakhi zofuzo ezibangela i-SDS, odokotela bahlaziya amasampula egazi, isikhumba, izinwele, noma izicubu zengane ukuze baqinisekise ukuthi ingane inalesi simo.

Lesi simo selashwa kanjani?

I-Shwachman-Diamond syndrome ingathinta ingane yakho ngezindlela eziningi. Isibonelo, ingane ingase ingakwazi ukugaya ukudla ngenxa yezinkinga ze-pancreas, kodwa umnkantsha wayo ungase usebenze ngendlela evamile. Izimpawu zingaba zincane noma zibe zimbi kakhulu. Odokotela belapha lezi zinguquko ngokusekelwe ebunzimeni besimo.

Ngokungapheleli kahle kwe-pancreatic exocrine:

Odokotela bangase banikeze ama-enzyme e-pancreatic omlomo noma amavithamini ancibilikayo emafutheni ukusiza umzimba wengane yakho ukuthi umunce izakhamzimba namafutha.

Uma kwenzeka ukungasebenzi kahle komnkantsha:

Ngenxa yokuthi lesi simo sithinta umongo wethambo wengane, umongo awukhiqizi ama-neutrophil anele. Odokotela ngokuvamile abalaphi izinkinga zomongo wethambo ngaphandle uma ingane inezinkinga ezinkulu. Ukwelashwa kungafaka:

• Ukumpontshelwa igazi: Kwandisa amazinga amangqamuzana egazi.
• Ukumpontshelwa ama-platelet: Kwandisa amazinga ama-platelet ukusiza ngezinkinga zokopha.
• I-Granulocyte-colony stimulating factor (G-CSF) : Lokhu kwelashwa kwandisa inani lama-neutrophil kumaseli amhlophe egazi lengane.
• Ukufakelwa kwamaseli e-stem: Abanye abantu abane-SDS bahlakulela umdlavuza wegazi noma izinkinga ezinkulu zegazi. Odokotela bangelapha lezi zimo ngokufakelwa kwamaseli e-stem.

Ngokukhubazeka kwesistimu yamathambo:

Odokotela bavame ukuqapha izinkinga zamathambo ezibangelwa yi-SDS. Ezinye izingane zingadinga ukuhlinzwa kwamathambo uma zinezinkinga ezinkulu.

Obani ochwepheshe bezokwelapha abaphatha lesi simo?

Kudingeka ithimba lochwepheshe ukuze kwelashwe i-Shwachman-Diamond syndrome. Ithimba lokwelapha ingane yakho lingafaka:

• Odokotela Bezingane: Laba odokotela belapha izinsana ezisanda kuzalwa, izingane kanye nabantu abadala abasebasha. Udokotela wezingane wengane yakho cishe uzoncoma ukuhlolwa ukuqinisekisa ukuthi ikhona yini i-SDS.
• Odokotela be-Endocrinologists: Laba ngabantu abanolwazi ohlelweni lwe-endocrine, oluthinta ukukhula kwengane.
• Odokotela begazi: Laba ngabantu abangochwepheshe ezifweni zegazi, okuhlanganisa nezinkinga ezithinta amangqamuzana egazi engane.
• Odokotela Bezifo Zesisu: Laba odokotela bangasiza ekwelapheni izinkinga zesistimu yokugaya ukudla kwengane yakho.
• Izazi Zezakhi Zofuzo: I-Shwachman-Diamond syndrome iyisimo sezakhi zofuzo. Laba odokotela, noma abeluleki bezakhi zofuzo, bazohlela ukuhlolwa kwezakhi zofuzo ukuqinisekisa isimo sengane yakho. Bangase bakuhlole wena kanye nezinye zezihlobo zegazi zengane yakho.
• Ochwepheshe bamathambo: Uma ingane yakho inezinkinga zamathambo ezidinga ukuhlinzwa, kuzodingeka ubone uchwepheshe wamathambo.

Ngingakuvimbela lokhu?

I-Shwachman-Diamond syndrome yisimo esizuzwe njengefa . Uma wazi ukuthi unalesi simo, kuwumqondo omuhle ukukhuluma nososayensi wezakhi zofuzo. Uma unezingane ezinalesi simo, ungase uthande ukucabangela ukuhlolwa kwezakhi zofuzo ukuze ubone ukuthi izingane zakho zinalo yini ushintsho lwezakhi zofuzo olubangela i-SDS.

Ingabe i-Shwachman-Diamond syndrome (SDS) ingelapheka ngokuphelele?

Odokotela abakwazi ukwelapha lesi simo ngokuphelele. Uma ingane yakho inalesi simo, izodinga ukunakekelwa kwezokwelapha impilo yayo yonke.

Kunjani ukuphila ne-Shwachman-Diamond syndrome (SDS)?

Ngandlela thile, i-Shwachman-Diamond syndrome iyisifo esingamahlalakhona . Uma ingane yakho inalesi simo, izodinga ukuhlolwa njalo nokuhlolwa.

• Ukubalwa kwegazi okuphelele (i-CBC) kanye nokubalwa kwamangqamuzana amhlophe egazi, ukubalwa kwama-platelet: Odokotela bangenza lokhu kuhlolwa njalo ezinyangeni ezintathu kuya kweziyisithupha.
• Ukuhlolwa komnkantsha: Odokotela begazi bangenza lezi zivivinyo kanye ngonyaka noma kanye njalo eminyakeni emithathu.
• Ukuhlolwa kwegazi kwamavithamini: Odokotela bangase balinganise inani lamavithamini egazini lengane ukuze babone ukuthi ukwelashwa ngama-enzyme e-pancreatic kuyasebenza yini.
• I-Bone densitometry: Odokotela bangahlola ubuningi bamathambo ngaphambi nangesikhathi sokuthomba.
• Ama-X-ray: Ama-X-ray angenziwa ukuhlola izinkinga ezinqeni nasemadolweni engane yakho, ikakhulukazi ngezikhathi zokukhula okusheshayo.
• Ukuhlolwa kokukhula: Ezinye izingane ezine-SDS zingase zibe nezinkinga zokukhula, njenge-attention deficit disorder (ADD). Odokotela bangase bahlole intuthuko njalo ezinyangeni eziyisithupha kusukela ekuzalweni kuya eminyakeni engu-6, kanye nokukhula njalo ezinyangeni eziyisithupha.
• Ukuhlolwa nokuhlolwa kwe-neuropsychological: I-SDS ingaholela ezimweni ezifana nokuphazamiseka kokunaka (ADD) noma ukuphazamiseka kokukhula okusakazekile (PDD). Odokotela bangase batuse ukuhlolwa okuvamile eminyakeni engu-6-8, 11-13, kanye ne-15-17.

Ngingamsiza kanjani ingane yami ukuthi ibhekane nalesi simo?

Izingane ezinalesi simo zingase zibe nezinkinga ezahlukene zezokwelapha. Zingase zidinge ukwelashwa ukuze zikwazi ukumunca izakhamzimba namafutha. Zinamathuba amaningi okuthola izifo. Zingase futhi zibe nokukhubazeka kwamathambo okuzenza zibukeke zihlukile kwabanye.

Kungakhathaliseki ukuthi yiziphi izimpawu, izingane ezinalesi simo zingase zibe nokukhathazeka okufanayo - ukuthi zihlukile kwezinye . Zingase zidinge ukwelashwa okuzigcina zingayi esikoleni nakwezinye izinto. Ukubukeka kwazo kungashintsha. Njengoba ingane yakho ikhula, lezi zinguquko zingase ziyenze ithukuthele futhi ikhungatheke. Ukuqonda le mizwa kungasiza ingane yakho ukuthi ilawule imizwa yayo. Ezinye izingane zingazuza ngokukhuluma nochwepheshe wezempilo yengqondo. Uma ukhathazekile ngokuthi ingane yakho ibhekana kanjani nesimo sayo, cela izincomo kudokotela wakho.

Kufanele ngimbone nini udokotela?

Uma ingane yakho ine-Shwachman-Diamond syndrome, kufanele uzame ukuqaphela izinguquko emzimbeni wengane yakho . Izimpawu ze-SDS zivame ukushintsha ngokuhamba kwesikhathi. Kwezinye izimo, lezi zinguquko zingaba izimpawu zezinkinga ezinkulu, okuhlanganisa nomdlavuza wegazi.

Imizimba yezingane ishintsha njalo njengoba zidlula ebuntwaneni, ebuntwaneni, ebusheni (ikakhulukazi ebusheni nasekukhuleni), kanye nasebudaleni. Lezi zinguquko azihlali ziyisibonakaliso sesifo esisha noma isimo esibucayi kakhulu.

Ingane yakho inezikhathi zokubonana nodokotela njalo.Lezo zikhathi zokuqokwa njalo ziyisikhathi esingcono kakhulu sokuba ubuze imibuzo mayelana nezinguquko ezingaba yizimpawu zenkinga enkulu kakhulu.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

I-Shwachman-Diamond syndrome iyisimo esingavamile. Ungase ungazi nokuthi unaso. Nansi eminye imibuzo ongayibuza udokotela wakho:

• Kungani ingane yami inalesi simo?
• Ingabe unesimo esingesihle salesi simo noma isimo esibi kakhulu?
• Lesi simo siyithinta kanjani ingane yami?
• Yiziphi izindlela zokwelapha?
• Ingabe izimpawu zengane yami zizoqhubeka ziba zimbi kakhulu?
• Ingabe abanye abafowabo nodadewabo bengane yami kudingeka bahlolwe izakhi zofuzo?
• Ingabe mina kanye nomunye umzali wengane kudingeka sihlolwe izakhi zofuzo?
• Ngingamsiza kanjani ingane yami ukuthi iphathe ukwelashwa?

Okokugcina, into ebaluleke kakhulu (Umyalezo Wokuya Ekhaya)

I-Shwachman-Diamond syndrome yisimo esingavamile, esizuzwe njengefa esithinta ukukhula kwezingane, ukuthambekela ekuthelelekeni ngamagciwane, kanye nokukhubazeka kwamathambo. Nakuba ezinye izingane zinezimpawu ezincane, zonke izingane ezinalesi simo zizodinga ukunakekelwa kwezokwelapha impilo yonke. Uma ingane yakho ine-Shwachman-Diamond syndrome, ungase uzizwe ukhungathekile ngokungaqiniseki ngokuthi ikusasa liphetheni. Uma ukulesi simo, yabelana ngokukhathazeka kwakho nodokotela bengane yakho. Bayaqonda ukuthi kunjani ukukhathazeka nokunakekela ingane enesifo esingathi sína, ngezinye izikhathi esingalindelekile. Bangasiza ingane yakho hhayi nje kuphela ukubhekana nalesi sifo, kodwa futhi bayisize iphile kahle. Futhi bayakujabulela ukukusiza usize ingane yakho. Ungalokothi uzizwe unesizungu, futhi ucele usizo.

I- Shwachman-Diamond syndrome, i-SDS, ukukhubazeka kwezakhi zofuzo, i-pancreas, umongo wamathambo, ukukhubazeka kwamathambo, izifo zezingane, i-neutropenia