Kubwereza Kwachidule kwa Zizindikiro, Kuyezetsa Kufufuza, ndi Chithandizo
Shwachman Diamond Syndrome (SDS) ndi imodzi mwa mafupa omwe amachokera ku mafupa osalimba omwe amagwirizana ndi neutropenia ndi pancreatic yolephera. Nthaŵi zina amatchedwa Shwachman Bodian Diamond kapena Shwachman Diamond Oski Syndrome. Icho cholandira choloŵera chowongolera; mwana yemwe wakhudzidwa ayenera kutenga cholowa cha mutated kuchokera kwa makolo onse.
Kodi Zizindikiro Zotani Zilipo?
- Kutsekula m'mimba, makamaka kutsekula kwa mafuta kotchedwa steatorrhea . Izi zimachokera ku mapheretechete omwe sangathe kupanga mapuloteni a pancreatic omwe amafunika kuti aswe zakudya zopatsa thanzi kuti athe kuziyika.
- Matenda omwe amapezeka kachilendo kaŵirikaŵiri ndi neutropenia
- Mfupi yochepa
- Kuchuluka kwa michere ya chiwindi
- Ziphuphu zopanda pake
- Anemia
- Thrombocytopenia
Kodi Zimapezeka Bwanji?
Ma SDS angakhale ovuta kuti azindikire ngati zizindikiro zonse siziyenera kuchitika nthawi yomweyo. Steatorrhea ikhoza kukhala chizindikiro choyamba ndi miyezi ikukutukuka ya neutropenia. Odwala amatha kuona akatswiri angapo (m'mimba, m'matumbo, hematology, m'matope) kuti apeze matenda oyenera.
Si zachilendo kwa steatorrhea komanso sitingathe kulemera (kutchedwanso kulephera kulemera) kukhala zizindikiro zoyamba za matendawa. Msonkhanowu umakhala wofanana ndi cystic fibrosis , kotero kuyesa thukuta kungapangidwe.
Poyerekeza ndi cystic fibrosis, mu SDS chiyeso cha thukuta chidzakhala choipa. Kuyesedwa kwina kungaphatikizepo fecal elastase (labiti yoyesera pachitetezo) ndi trypsin (ntchito ya magazi), zonse zomwe zimayeza pancreatic ntchito. Mtundu woterewu umatchedwa exocrine pancreas yolephera (poyerekeza ndi shuga, yomwe imakhala yopanda matenda).
Neutropenia idzadziwika pa chiwerengero cha magazi (CBC) . Kawirikawiri, pa kupereka kokha chiwerengero cha neutrophil chidzakhala chochepa. Komabe, pakapita nthawi odwala angapange pancytopenia (kuchepa kwa magazi ndi thrombocytopiaa kuphatikizapo neutropenia). Pulogalamu ya aspirate ya mafupa ndi biopsy idzafunika kuti iwononge zifukwa zina za neutropenia. Odwala omwe ali ndi SDS ali pachiopsezo chokhazikitsa myelodysplastic syndrome kapena myeloid leukemia ( AML ), kotero kuti kuyeza kwa mafupa a mitsempha kudzachitika nthawi zonse kuti ayang'ane pa izi.
DSS ili ndi matenda opatsirana pogwiritsa ntchito cytopenia (neutropenia, kuchepa magazi m'thupi, kapena thrombocytopenia) komanso kutentha kwa pancreatic. Kuyezetsa magazi kungatumizedwe kuti atsimikizidwe kuti ali ndi matenda, koma sikofunika.
Kodi mankhwalawa ndi otani?
Mankhwala amaganizira kwambiri machitidwe akuluakulu a thupi omwe amakhudzidwa: mphukira ndi mafupa.
Kusokonezeka kwapancretic kumachitidwa chimodzimodzi ndi cystic fibrosis.
- Mavitamini a phokoso amphongo amatengedwa ndi zakudya (ndipo nthawi zina amadya) kuti azitha kudya zakudya zowonjezera zakudya. Monga zaka zodwala, pancreatic ntchito ingapangitse komanso mavitamini a pancreatic sangakhale ofunika.
- Kuwonjezera apo, mavitamini (s, A, D, E, K) omwe sungunuka amatha kukhala otsika ndipo amafunikanso kuwongolera.
Kulephera kwa mafupa a mafupa:
- Maantibayotiki: Mofanana ndi matenda ena ndi neutropenia, malungo ndiwodzidzidzidwa kuchipatala. Fever imafuna kuyesedwa ndi dokotala, ntchito yamagazi (kumaliza magazi ndi miyambo ya magazi osachepera), komanso mlingo umodzi wa antibiotic (intravenous IV). Ngati neutropenia ndi yovuta (yowerengeka ya neutrophil <500), kuvomereza kwa antibiotic ya IV mpaka chikhoza kuthetsedwa.
- Filgrastim (granulocyte colony stimulating factor): Izi zingaperekedwe ngati jekeseni (pansi pa khungu) tsiku ndi tsiku kuti liwonjezere ANC ndi kuteteza matenda.
- Kuika magazi: Magazi ofiira kapena magazi opatsirana angaperekedwe kwa odwala omwe amachititsa magazi m'thupi kapena / kapena thrombocytopenia.
- Kuika mafupa a mitsempha: Ngati neutropenia ikupita ku pancytopenia, kupaka mafuta a mafupa ndi njira yokhayo yothandizira. Momwemonso, kupatsirana kwa mafupa kumafunika kusanayambe chitukuko cha AML ngati chiwonongeko chikuchepa kwambiri ngati AML ikukula.
Chitsime:
Rogers ZR. Shwachman-Diamond Syndrome. Mu: UpToDate, Post TW (Ed), UpToDate, Waltham, MA.