Muchidimbu Kudzokorora kwezviratidzo, Kuongororwa Kuongororwa, uye Kurapa
Shwachman Diamond Syndrome (SDS) chimwe chezvakagamuchirwa marora kusakatika syndromes inosangana neutropenia uye pancreatic dysfunction. Iko dzimwe nguva kunonzi Shwachman Bodian Diamond kana Shwachman Diamond Oski Syndrome. Izvo zvakatora nhaka mumutambo wekutsvaga kwezvokudya; mwana akataridzika anofanira kutora nhaka yegene mutated kubva kuvabereki vose.
Ndezvipi Zviratidzo Zvinouya?
- Dhairrhea, kunyanya chirwere chemafuta chinonzi steatorrhea . Izvi zvinokonzerwa nepancreas isingakwanisi kuita pancreatic enzyme inodiwa kuti iparadze mishonga muzvokudya kuitira kuti iwanikwe.
- Zvirwere zvekare zvakare kune neutropenia
- Short stature
- Elevation in chiropa enzymes
- Skeletal zvisiri izvo
- Anemia
- Thrombocytopenia
Inozivikanwa Sei?
SDS inogona kuva yakaoma kuti iongorore sekuti zviratidzo zvose nezviratidzo hazvifaniri kuitika panguva imwe chete. Steatorrhea inogona kunge iri chiratidzo chekutanga neutrotenia inozove mwedzi inozoitika. Varwere vanogona kuona nyanzvi dzakasiyana-siyana (masumbu, hematology, endocrinology) kuitira kuti vawane chirwere chakakodzera.
Hazvisi zvisinganzwisisiki kuti munhu ave nehutachiona uye asingakwanisi kuwedzera kuwanda (zvinonziwo kusakwanisa kubudirira) kuva yekutanga zviratidzo zvechiitiko ichi. Iyi mharidzo yakafanana zvikuru ne cystic fibrosis , saka chirwere che sweatshi chinogona kuitwa.
Kuenzaniswa ne cystic fibrosis, mu SDS chirwere che sweat chichava chakaipa. Kuwedzera kuongororwa kunogona kusanganisira fecal elastase (laboratory test on the stool) uye trypsin (ropa rebasa), zvose zvinoyera pancreatic basa. Izvi zvinonzi pancreatic dysfunction inonzi exocrine pancreas kusagadzikana (kufananidzwa nechirwere cheshuga, icho chinonzi endocrine pancreatic dysfunction).
Neutropenia ichaonekwa pahuwandu hwekuverenga ropa (CBC) . Muzhinji, pahurukuro chete nhamba ye neutrophil ichave yakaderera. Zvisinei, nekufamba kwenguva vamwe varwere vanogona kukura pancytopenia (anemia uye thrombocytopenia kuwedzera kune neutropenia). Bhiza reApirate uye biopsy richadikanwa kutonga zvimwe zvikonzero zveutachiona. Varwere vane SDS vari pangozi yekuvandudza myelodysplastic syndrome kana chirwere chinonzi myeloid leukemia ( AML ), saka kuongorora kwemarongo kuchaitwa nguva dzose kuti iongorore nekuda kwemamiriro aya.
SADS ine chirwere chekurapa chinotarisana nekuvapo kwe cytopenia (neutropenia, anemia, kana thrombocytopenia) uye pancreatic dysfunction. Kuongorora mazita ekumhanya kunogona kutumirwa kunotsigira kuongororwa, asi hazvidiwi.
Ndeapi Mishonga?
Mishonga inotarisa pamadziviri maviri ehurumende makuru akabatwa: pancreas uye marrow bone.
Kupera simba kwepancretic kunorapwa zvakafanana ne cystic fibrosis.
- Nhengo dzemakemikari dzemakemikari dzinotapudzwa dzinotorwa nechingwa (uye dzimwe nguva dzinodya) kunatsiridza kudya kwezvakakwana kubva pane kudya. Semakore ekutsungirira, pancreatic basa inogona kuvandudza uye pancreatic enzyme ingasazove yakakosha.
- Uyezve, mavhithamini ane mafuta anogadzikana (A, D, E, K) anogona kunge ari pasi uye anoda kudzokorora.
Kutadza kwemarara kwepfupa:
- Mishonga inorwisa mabhakitiriya: Kufanana nemamwe marapirwo ane neutropenia, fevri chirwere chekukurumidzira. Fever inoda kuongororwa neyanzvirapi, basa reropa (kukwana ropa rakawanda uye tsika dzeropa zvishoma), uye pamwe chete imwe nhengo ye intravenous (IV) antibiotics. Kana iyo neutropenia yakaoma (absolute neutrophil count <500), kubvumirwa kune ma antibiotic IV kusvikira hutachiona hukanganiswa.
- Filgrastim (granulocyte colony stimulating factor): Ichi chinogona kupiwa sechikamu chemuviri (pasi peganda) zuva rimwe nerimwe kuwedzera ANC uye kudzivirira zvirwere.
- Kuwedzerwa ropa: Tsvuku yeropa rega kana kupirisa yeplatelet inogona kupiwa kuvarwere vanovaka anemia uye / kana thrombocytopenia.
- Tsvina yemafuta kudururira: Kana neutropenia ichipfuurira kusvika pane pancytopenia, kupfutira mafuta emafuta ndiyo chete inorapwa inorapwa. Zvakanaka, mapfupa emapfupa anopisa anofanira kuitika isati yasvika pakuvandudzwa kwe AML sezvo kufungidzira kunowira pasi zvikuru kana AML ichikura.
Kunobva:
Rogers ZR. Shwachman-Diamond Syndrome. Mu: UpToDate, Post TW (Ed), UpToDate, Waltham, MA.