Tlhahlobo e Khutšoanyane ea Matšoao, Tlhahlobo ea Tlhahlobo le Tlhahlobo
Samachman Diamond Syndrome (SDS) ke e 'ngoe ea li-syndromes tse futsanehileng tsa marore tse futsitsoeng tse amanang le neutropenia le pancreatic dysfunction. Ka linako tse ling ho thoe ke Shwachman Bodian Diamond kapa Shwachman Diamond Oski Syndrome. E futsitsoe ka mokhoa o feteletseng oa autosomal; ngoana ea amehileng o lokela ho rua liphatsa tsa lefutso tsa batsoali ba hae ka bobeli.
Matšoao a Hlahisang ke Eng?
- Letšollo, haholo-holo letšollo le bitsoang steatorrhea . Sena se bakoa ke li-pancreas tse sitoang ho etsa li-enzyme tsa pancreatic tse hlokahalang ho senya limatlafatsi ka lijo e le hore li khone ho kenngoa.
- Matšoao a tloaelehileng a mabeli ho ea ho a neutropenia
- Nako e khutšoanyane
- Ho phahamisa li-enzyme tsa sebete
- Litlhako tse sa tloaelehang
- Anemia
- Thrombocytopenia
E Tsejoa Joang?
SDS e ka ba phephetso ho fumana hore matšoao le matšoao ha ho hlokahale hore a hlahe ka nako e le 'ngoe. Steatorrhea e ka 'na ea e-ba letšoao la pele le nang le neutropenia likhoeling hamorao. Bakuli ba ka 'na ba bona litsebi tse' maloa (masapo a 'mele, hematology, endocrinology) e le hore ba tsebe ho hlahloba hantle.
Ke ntho e tloaelehileng bakeng sa steatorrhea le ho se khone ho theola boima (ho boetse ho bitsoa ho hlōleha ho atleha) hore e be matšoao a pele a boemo bona. Lenaneo lena le tšoana haholo le cystic fibrosis , ka hona ho ka 'na ha etsoa teko ea mofufutso.
Ha li bapisoa le cystic fibrosis, ho SDS ho fufuleloa ke lefu. Tlhahlobo e eketsehileng e ka 'na ea kenyelletsa fecal elastase (lengolo la teko le setulong) le trypsin (mosebetsi oa mali), bobeli bo lekanyang mosebetsi oa pancreatic. Mofuta ona oa ho se sebetse ha pancreatic o bitsoa exocrine pancreas ho se sebetse (ho bapisoa le lefu la tsoekere, e leng endocrine pancreatic ho se sebetse).
Neutropenia e tla fumanoa ka palo e feletseng ea mali (CBC) . Ka kakaretso, ha ho buuoa feela palo ea neutrophil e tla ba tlaase. Leha ho le joalo, ka nako bakuli ba bang ba ka hlahisa pancytopenia (phokolo ea mali le thrombocytopiaa ho phaella ho neutropenia). Ho tla hlokahala hore setulo sa aspirate sa masapo le biopsy se hlahise mabaka a mang a neutropenia. Bakuli ba nang le SDS ba kotsing ea ho ntlafatsa myelodysplastic syndrome kapa lefu la myeloid leukemia ( AML ), kahoo ho hlahlojoa ha 'mele oa bone ho tla etsoa kamehla bakeng sa ho hlahloba maemo ana.
SDS e na le ho hlahlojoa ka bongaka ho latela ho ba le cytopenia (neutropenia, anemia, kapa thrombocytopenia) le ho se sebetse ha pancreatic. Ho hlahlojoa ha liphatsa tsa lefutso ho ka romeloa hore ho netefatsoe ho hlahlojoa, empa ha ho hlokahale.
Litšebeletso ke life?
Meriana e lebisitsoe tlhokomelo tsamaisong e 'meli e meholo ea' mele e amehang: lik'hakoana le mofu oa masapo.
Ho se sebetse ho pancretic ho tšoaroa ka tsela e tšoanang le ea cystic fibrosis.
- Li-enzyme tsa lipalesa tse nang le molomo li nkoa ka lijo ('me ka linako tse ling lia ja) ho ntlafatsa ho ja limatlafatsi tse tsoang lijong. Joaloka lilemo tsa mokuli, mosebetsi oa pancreatic o ka ntlafatsa le ho etsa li-enzyme tsa pancreatic ho se ke ha hlola ho hlokahala.
- Ho phaella moo, mafura a mafura a nang le mafura (A, D, E, K) a ka 'na a ba a tlaase' me a hloka ho nkeloa sebaka.
Ho hlōleha ha 'mele oa masapo:
- Likokoana-hloko: Joaloka maemo a mang a bongaka a nang le neutropenia, feberu ke tšohanyetso ea bongaka. Feberu e hloka tlhahlobo ea litsebi tsa bongaka, mosebetsi oa mali (phetho ea mali le litloaelo tsa mali ka bonyane), 'me bonyane ho na le tekanyo e le' ngoe ea lithibela-mafu tse intravenous (IV). Haeba neutropenia e boima (palo e feletseng ea neutrophil <500), ho kenngoa bakeng sa lithibela-mafu tsa IV ho fihlela tšoaetso e ka felisoa.
- Filgrastim (motsoako oa granulocyte colon factor): Sena se ka fanoa e le ente e ka tlas'a letlalo (tlas'a letlalo) letsatsi le leng le le leng ho eketsa ANC le ho thibela tšoaetso.
- Ho tšeloa mali: Selefo e khubelu ea mali kapa tšelo ea platelet e ka fanoa bakeng sa bakuli ba hlahisang mali a mali le / kapa thrombocytopenia.
- Phetoho ea 'mele oa mongobo: Haeba neutropenia e ntse e tsoela pele ho pancytopenia, ho fetisetsa motsoako oa mofu ke eona feela phekolo ea phekolo e fumanehang. Ha e le hantle, ho fetisetsa motsoako oa bone ho lokela ho etsahala pele ho nts'o nts'etsopele ea AML ha mokhoa oa ho bua o ntse o theoha haholo haeba AML e ntse e tsoela pele.
Mohloli:
Rogers ZR. Semechman-Diamond Syndrome. Ka ho: UpToDate, TW Post (Ed), UpToDate, Waltham, MA.