Kodi mwana wanu ali ndi vuto losowa ili? Tiyeni tiphunzire za matenda a Shwachman-Diamond (SDS)

Kodi mwana wanu akudwala nthawi zonse? Sakulemera? Kapena mukuona kusintha kulikonse m'mafupa ake? Nthawi zina, izi zitha kukhala chifukwa cha matenda a Shwachman-Diamond (SDS), matenda osowa kwambiri omwe amakhudza ana. Tiyeni tikambirane za izi m'njira yosavuta yomwe mungamvetse.

Kodi matenda a Shwachman-Diamond (SDS) ndi chiyani?

Mwachidule, matenda a Shwachman-Diamond (SDS) ndi matenda osowa kwambiri omwe amakhudza kwambiri kapamba, mafuta am'mafupa, ndi mafupa mwa ana. Nthawi zambiri amapezeka mwana asanakwanitse chaka chimodzi. Komabe, nthawi zina amatha kupezeka mwa achinyamata.

Matenda a SDS ndi matenda ovuta kuwazindikira ndi kuwachiza chifukwa angayambitse zizindikiro zosiyanasiyana. Mwana akhoza kukhala ndi chimodzi, zingapo, kapena zonse ziwirizi. Mwachitsanzo, mwana mmodzi akhoza kukhala ndi vuto la kapamba ndi mafupa, pomwe mwana wina akhoza kukhala ndi vuto la mafuta ndi mafupa okha.

Ndi matenda osayembekezereka kwambiri . Zizindikiro za ana zimatha kukhala zochepa kapena zazikulu. Zizindikirozi zimatha kusintha pakapita nthawi. Popeza ana omwe ali ndi matenda a SDS amakhala ndi mavuto osiyanasiyana azachipatala, ana ambiri amafunika thandizo la gulu la akatswiri . Ngakhale kuti ana omwe ali ndi vutoli amafunikira chithandizo chamankhwala kwa moyo wawo wonse, nthawi zambiri amakhala ndi moyo wabwinobwino. Komabe, ana ena ndi achinyamata amatha kukhala ndi khansa ya magazi yomwe imapha anthu ambiri (Acute Myeloid Leukemia) kapena matenda oopsa a magazi (Myelodysplasia).

Kodi izi ndi vuto lofala?

N'zovuta kunena motsimikiza. Madokotala amaona kuti matenda a Shwachman-Diamond ndi vuto losowa kwambiri. Koma pali ziwerengero zochepa chabe za kuchuluka kwa ana omwe ali ndi vutoli. Ziwerengero zina zimati vutoli ndi limodzi mwa ana 75,000 obadwa . Chifukwa cha kuyerekezera kumeneku ndikuti ana amatha kukhala ndi zizindikiro zochepa kapena zoopsa, si ana onse omwe ali ndi zizindikiro zofanana, ndipo palibe mayeso amodzi otsimikizika odziwira vutoli.

Kodi akuluakulu nawonso ali ndi matenda a Shwachman-Diamond (SDS)?

Mosiyana ndi mavuto ena azaumoyo a ana, matenda a Shwachman-Diamond satha ana akamakula. Zizindikiro ndi chithandizo zimatha kusintha pakapita nthawi, koma ana omwe ali ndi vutoli amafunika chisamaliro chamankhwala cha moyo wawo wonse .

Kodi vutoli limakhudza bwanji thupi la mwana wanga?

Matenda a Shwachman-Diamond angayambitse mavuto ambiri azachipatala, koma pali zotsatira zitatu zazikulu:

1. Kulephera kwa pancreatic m'thupi:Pancreas ya mwana wanu ndi chiwalo chomwe chili kumbuyo kwa mimba. Chili ndi mtundu wa selo lotchedwa acinar cells. Maselo amenewa amapanga ma enzyme omwe amathandiza kugaya chakudya. Ma enzyme amenewa amaswa michere ndi mafuta omwe ali mu chakudya kuti thupi lizitha kuyamwa. Kwa ana omwe ali ndi SDS, kapamba sapanga ma enzyme okwanira awa. Zotsatira zake, mwanayo sapeza michere yomwe amafunikira.

2. Kulephera kugwira ntchito kwa mafuta a m'mafupa: Mafuta a m'mafupa a mwana wanu amapanga maselo ofiira a m'magazi, maselo oyera a m'magazi, ndi ma platelet. Mwa ana omwe ali ndi SDS, mafuta a m'mafupa amapanga maselo ochepa kuposa omwe ali wamba. Makamaka, sapanga maselo oyera a m'magazi okwanira otchedwa neutrophils . Ma neutrophils ndi maselo omwe nthawi zambiri amateteza thupi ku zinthu zowononga monga mabakiteriya. Ana ena omwe ali ndi SDS alibe ma neutrophils okwanira kuti amenyane ndi zinthu zowononga mabakiteriyazi. Matendawa amatchedwa neutropenia . Ana omwe ali ndi neutropenia nthawi zambiri amakhala ndi matenda a bakiteriya monga chibayo, matenda a khutu lapakati, kapena matenda a pakhungu.

3. Matenda a mafupa: Ana omwe ali ndi matenda a SDS akhoza kukhala ndi matenda monga scoliosis, kufupika kwa mafupa m'manja ndi miyendo (chondrodysplasia), kapena chifuwa chopapatiza chooneka ngati belu (thoracic dystrophy).

Kodi mavuto a matenda a Shwachman-Diamond (SDS) ndi otani?

Anthu omwe ali ndi vutoli ali pachiwopsezo chachikulu chotenga maselo amagazi osazolowereka (`(myelodysplasia)`) . Izi pambuyo pake zimatha kukhala khansa ya m'magazi yotchedwa `(acute myeloid leukemia)` .

Kodi zizindikiro za matenda a Shwachman-Diamond (SDS) ndi ziti?

Matendawa amatha kukhudza ziwalo zingapo za thupi la mwana. Komabe, zizindikiro zodziwika kwambiri zimakhudza kapamba, mafuta am'mafupa, ndi mafupa. Anthu ena amatha kukhala ndi zizindikiro pobadwa, ali aang'ono, kapena ali ana aang'ono. Anthu ochepa amatha kukhala ndi zizindikiro ali aang'ono.

Zizindikiro zodziwika bwino:

• Kulephera kukula bwino: Izi zikutanthauza kuti mwana wanu sakulemera. Pankhani ya matenda a SDS, izi zitha kukhala chifukwa cha kusagwira bwino ntchito kwa chakudya.
• Kutopa: Mwana amene watopa akhoza kukhala wokwiya msanga komanso wotopa.
• Chimbudzi chachikulu, chamafuta, komanso chonunkha: Chimbudzi cha mwana wanu chingakhale chachikulu kwambiri, chooneka ngati chamafuta, komanso chokhala ndi fungo loipa.
• Matenda oopsa obwerezabwereza: Ngati matenda a bakiteriya akupitirizabe kuchitika, akhoza kukhala chizindikiro cha SDS.
• Kusintha kooneka m'mafupa a manja ndi miyendo: Manja ndi miyendo ya makanda ingakhale yaifupi poyerekeza ndi thupi lawo.

Kodi n’chiyani chimayambitsa matenda a Shwachman-Diamond (SDS)?

Pafupifupi 90% ya ana omwe ali ndi SDS ali ndi kusintha kwa majini a `SBDS` . Kafukufuku wasonyeza kuti kusintha kumeneku kumatha kutengera kwa makolo onse awiri (`(autosomal recessive manner)`) kapena kwa kholo limodzi ndipo kusintha kwatsopano kumachitika. Ofufuza sakudziwabe chifukwa chake kusintha kwa majini a `SBDS` kumayambitsa SDS.

Kodi madokotala amazindikira bwanji vutoli?

Madokotala adzayesa thupi la mwana wanu kuti adziwe thanzi lake lonse. Adzayesa kutalika ndi kulemera kwa mwana wanu ndikumuyerekeza ndi kukula kwa ana ena azaka zawo. Akhozanso kuchita mayeso otsatirawa:

• Kuchuluka kwa magazi (CBC) ndi kusiyana: Izi zimawerengera maselo a magazi a mwana, makamaka maselo oyera onse a magazi.
• Mayeso a ntchito ya kapamba: Madokotala angafufuze zitsanzo za ndowe za mwana wanu kapena kuchita mayeso ojambulira zithunzi monga computed tomography (CT) scans.
• Kuyezetsa magazi kuti muwone kuchuluka kwa mavitamini.
• X-ray: Ma X-ray angatengedwe kuti aone ngati ali ndi vuto la mafupa, makamaka m'chiuno kapena miyendo ya mwana.
• Kuyeza majini: Kuti adziwe kusintha kwa majini komwe kumayambitsa matenda a SDS, madokotala amafufuza zitsanzo za magazi, khungu, tsitsi, kapena minofu ya mwanayo kuti atsimikizire ngati mwanayo ali ndi vutoli.

Kodi vutoli limachiritsidwa bwanji?

Matenda a Shwachman-Diamond angakhudze mwana wanu m'njira zambiri. Mwachitsanzo, mwana sangathe kugaya chakudya chifukwa cha mavuto a kapamba, koma mafuta ake a m'mafupa amatha kugwira ntchito bwino. Zizindikiro zake zingakhale zochepa kapena zazikulu. Madokotala amachiritsa kusinthaku kutengera kuopsa kwa vutoli.

Pakulephera kwa pancreatic exocrine:

Madokotala angakupatseni ma enzymes a kapamba kapena mavitamini osungunuka mafuta kuti athandize thupi la mwana wanu kuyamwa zakudya ndi mafuta.

Pa vuto la mafupa:

Popeza vutoli limakhudza mafupa a mwana, mafupa sapanga ma neutrophils okwanira. Nthawi zambiri madokotala sachiza matenda a mafupa pokhapokha ngati mwanayo ali ndi mavuto aakulu. Chithandizo chingaphatikizepo:

• Kuika magazi: Kumawonjezera kuchuluka kwa maselo m'magazi.
• Kuika magazi m'magazi: Kumawonjezera kuchuluka kwa magazi m'magazi kuti kuthandize kuthetsa mavuto otuluka magazi.
• Granulocyte-colony stimulating factor (G-CSF) : Mankhwalawa amawonjezera kuchuluka kwa ma neutrophils m'maselo oyera a magazi a mwana.
• Kuika maselo oyambira: Anthu ena omwe ali ndi matenda a SDS amadwala khansa ya m'magazi kapena matenda aakulu a m'magazi. Madokotala amatha kuchiza matendawa poika maselo oyambira.

Pa zovuta za dongosolo la mafupa:

Madokotala nthawi zambiri amawunika mavuto a mafupa omwe amayamba chifukwa cha matenda a SDS. Ana ena angafunike opaleshoni ya mafupa ngati ali ndi mavuto aakulu.

Kodi akatswiri azachipatala omwe amachiza vutoli ndi ndani?

Gulu la akatswiri likufunika kuti lichiritse matenda a Shwachman-Diamond. Gulu la chithandizo cha mwana wanu likhoza kuphatikizapo:

• Madokotala a Ana: Madokotala awa amathandiza makanda obadwa kumene, ana, ndi achinyamata. Dokotala wa ana a mwana wanu mwina angakulimbikitseni kuti muyesedwe kuti mutsimikizire ngati pali matenda a SDS.
• Akatswiri a Endocrinologists: Awa ndi anthu omwe ali ndi luso pa dongosolo la endocrine, lomwe limakhudza kukula kwa mwana.
• Akatswiri a zamagazi: Awa ndi anthu omwe amagwira ntchito yofufuza matenda a magazi, kuphatikizapo matenda omwe amakhudza maselo a magazi a mwana.
• Akatswiri a matenda a m'mimba: Madokotala awa angathandize kuchiza mavuto a m'mimba mwa mwana wanu.
• Akatswiri a majini: Matenda a Shwachman-Diamond ndi matenda a majini. Madokotala awa, kapena alangizi a majini, adzakonza zoyezetsa majini kuti atsimikizire matenda a mwana wanu. Angakuyezeninso inu ndi abale ena a magazi a mwana wanu.
• Akatswiri a mafupa: Ngati mwana wanu ali ndi mavuto a mafupa omwe amafunika opaleshoni, muyenera kuonana ndi katswiri wa mafupa.

Kodi ndingapewe izi?

Matenda a Shwachman-Diamond ndi matenda obadwa nawo . Ngati mukudziwa kuti muli ndi vutoli, ndi bwino kulankhula ndi katswiri wa majini. Ngati muli ndi ana omwe ali ndi vutoli, mungafune kuganizira zoyesa majini kuti muwone ngati ana anu ali ndi kusintha kwa majini komwe kumayambitsa matenda a SDS.

Kodi matenda a Shwachman-Diamond syndrome (SDS) angachiritsidwe kwathunthu?

Madokotala sangathe kuchiza vutoli kwathunthu. Ngati mwana wanu ali ndi vutoli, adzafunika chithandizo chamankhwala kwa moyo wake wonse.

Kodi zimakhala bwanji kukhala ndi matenda a Shwachman-Diamond (SDS)?

Mwanjira ina, matenda a Shwachman-Diamond ndi matenda osatha . Ngati mwana wanu ali ndi vutoli, adzafunika kuyezetsa magazi nthawi zonse.

• Kuchuluka kwa magazi (CBC) ndi kuchuluka kwa maselo oyera m'magazi, kuchuluka kwa ma platelet: Madokotala angachite mayesowa miyezi itatu kapena isanu ndi umodzi iliyonse.
• Kuyezetsa mafupa: Akatswiri a zamagazi amatha kuchita mayesowa kamodzi pachaka kapena kamodzi pa zaka zitatu zilizonse.
• Kuyezetsa magazi kuti aone mavitamini: Madokotala angayeze kuchuluka kwa mavitamini m'magazi a mwana kuti aone ngati chithandizo cha ma enzyme a kapamba chikugwira ntchito.
• Kuyeza kuchuluka kwa mafupa: Madokotala amatha kuyesa kuchuluka kwa mafupa asanayambe komanso akamatha msinkhu.
• X-ray: X-ray ingachitike kuti muwone ngati mwana wanu ali ndi mavuto m'chiuno ndi m'mawondo, makamaka nthawi yomwe akukula mofulumira.
• Kuwunika kukula: Ana ena omwe ali ndi SDS akhoza kukhala ndi mavuto a kukula, monga vuto la kusazindikira bwino (ADD). Madokotala amatha kuwunika kukula kwa mwana miyezi isanu ndi umodzi iliyonse kuyambira kubadwa mpaka zaka 6, komanso kukula kwa mwana miyezi isanu ndi umodzi iliyonse.
• Kuyezetsa ndi kuwunika kwa ubongo: SDS ingayambitse matenda monga attention deficit disorder (ADD) kapena pervasive developmental disorder (PDD). Madokotala angakulangizeni kuti muyesedwe nthawi zonse ali ndi zaka zapakati pa 6-8, 11-13, ndi 15-17.

Kodi ndingathandize bwanji mwana wanga kuthana ndi vutoli?

Ana omwe ali ndi vutoli akhoza kukhala ndi mavuto osiyanasiyana azaumoyo. Angafunike chithandizo chowathandiza kuyamwa zakudya ndi mafuta. Amakhala ndi mwayi waukulu wopeza matenda. Angakhalenso ndi matenda a mafupa omwe amawapangitsa kuwoneka osiyana ndi ena.

Kaya zizindikiro zake ndi ziti, ana omwe ali ndi vutoli akhoza kukhala ndi nkhawa yofanana - kuti ndi osiyana ndi ena . Angafunike chithandizo chomwe chimawaletsa kupita kusukulu ndi zochitika zina. Maonekedwe awo amatha kusintha. Pamene mwana wanu akukula, kusintha kumeneku kungamupangitse kukwiya komanso kukhumudwa. Kumvetsa malingaliro amenewa kungathandize mwana wanu kuthana ndi malingaliro ake. Ana ena angapindule polankhula ndi katswiri wa zamaganizo. Ngati mukuda nkhawa ndi momwe mwana wanu akuvutikira ndi vutoli, funsani dokotala wanu kuti akupatseni malangizo.

Kodi ndiyenera kupita kwa dokotala liti?

Ngati mwana wanu ali ndi matenda a Shwachman-Diamond, muyenera kuyesetsa kudziwa kusintha kwa thupi la mwana wanu . Zizindikiro za matenda a SDS nthawi zambiri zimasintha pakapita nthawi. Nthawi zina, kusintha kumeneku kungakhale zizindikiro za mavuto aakulu, kuphatikizapo khansa ya m'magazi.

Matupi a ana amasintha nthawi zonse akamadutsa muubwana, ubwana, unyamata (makamaka unyamata ndi kutha msinkhu), komanso unyamata. Kusintha kumeneku sikuti nthawi zonse kumakhala chizindikiro cha matenda atsopano kapena matenda oopsa kwambiri.

Mwana wanu amakumana ndi dokotala nthawi zonse.Kukumana ndi anthu nthawi zonse ndi nthawi yabwino kwambiri yoti mufunse mafunso okhudza kusintha komwe kungakhale chizindikiro cha vuto lalikulu.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wanga?

Matenda a Shwachman-Diamond ndi matenda osowa kwambiri. Mwina simukudziwa kuti muli nawo. Nazi mafunso ena omwe mungafunse dokotala wanu:

• N’chifukwa chiyani mwana wanga ali ndi vutoli?
• Kodi ali ndi vuto lochepa kapena loopsa?
• Kodi vutoli limakhudza bwanji mwana wanga?
• Kodi mankhwala ake ndi otani?
• Kodi zizindikiro za mwana wanga zidzakula kwambiri?
• Kodi abale ena a mwana wanga ayenera kuyezedwa majini?
• Kodi ine ndi kholo lina la mwanayo tiyenera kuyesedwa majini?
• Kodi ndingathandize bwanji mwana wanga kuti azitha kulandira chithandizo?

Pomaliza, chinthu chofunikira kwambiri (Uthenga Wopita Nawo Kunyumba)

Matenda a Shwachman-Diamond ndi matenda osowa, obadwa nawo omwe amakhudza kukula kwa ana, kufalikira kwa matenda a bakiteriya, komanso matenda a mafupa. Ngakhale ana ena ali ndi zizindikiro zochepa, ana onse omwe ali ndi vutoli amafunikira chithandizo chamankhwala kwa moyo wawo wonse. Ngati mwana wanu ali ndi matenda a Shwachman-Diamond, mungamve kuti mukuvutika kwambiri ndi kusadziwa zomwe zidzachitike mtsogolo. Ngati muli mu mkhalidwe uwu, gawani nkhawa zanu ndi madokotala a mwana wanu. Amamvetsetsa momwe zimakhalira kuda nkhawa ndi kusamalira mwana yemwe ali ndi matenda aakulu, nthawi zina osayembekezereka. Angathandize mwana wanu osati kungopirira matendawa okha, komanso kuwathandiza kukhala ndi moyo wabwino. Ndipo amasangalala kukuthandizani kuthandiza mwana wanu. Musamadzimve kuti ndinu nokha, ndipo pemphani thandizo.

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