Ukubukezwa Okufushane Kwezibonakaliso, Ukuhlola Ukuhlola, Nokunakekelwa
I-Shwachman Diamond Syndrome (i-SDS) ingenye ye-syndromes ekuhlulekeni kwamathambo ezuzwe ngefa elihlotshaniswa ne-neutropenia ne-pancreatic dysfunction. Ngezinye izikhathi kuthiwa yi-Shwachman Bodian Diamond noma i-Shwachman Diamond Oski Syndrome. Izuzwe njengefa ngokwezindlela ezihamba phambili ze-autosomal; ingane ethintekile kumele izuze ifa lesandulela ngculazi kubo bobabili abazali.
Yiziphi Izimpawu Ezilethayo?
- Uhudo, ikakhulukazi isifo sohudo esibizwa nge- steatorrhea . Lokhu kubangelwa ama-pancreas akakwazi ukwenza ama-enzyme e-pancreatic adingekayo ukuze aphule izakhi ezokudla ukuze angene.
- Izifo ezitholakalayo zibuye zibe se- neutropenia
- Isiqu esifushane
- Ukuphakama kwamanzyzy enesibindi
- Ukungahleleki kwamathambo
- I-anemia
- Thrombocytopenia
Utholakala kanjani?
I-SDS ingaba yinselele ukuxilonga njengoba zonke izimpawu nezimpawu akudingeki ukuba zenzeke ngesikhathi esifanayo. I-steatorrhea ingaba uphawu lokuqala nge-neutropenia ezinyukayo ezinyangeni ezizayo. Iziguli zingase zibone ochwepheshe abaningana (izinsizi, izinyosi, i-endocrinology) ukuze bathole ukuxilongwa okufanele.
Kuyinto engavamile ukuba i-steatorrhea futhi ingakwazi ukuzuza isisindo (okuthiwa ukuhluleka ukuphumelela) ukuba ibe izimpawu zokuqala zalesi simo. Le phrezentheshini ifana kakhulu ne- cystic fibrosis , ngakho-ke ukuhlolwa kwe-sweat kungenziwa.
Uma kuqhathaniswa ne-cystic fibrosis, ku-SDS ukuhlolwa kwe-sweat kuyoba kubi. Ukuhlolwa okungeziwe kungabandakanya i-fecal elastase (ukuhlolwa kwelebhu esitokisini) kanye ne-trypsin (umsebenzi wegazi), kokubili okulinganisa umsebenzi we-pancreatic. Lolu hlobo lwe-pancreatic dysfunction lubizwa ngokuthi i-exocrine pancreas ukungasebenzi (uma kuqhathaniswa nesifo sikashukela, okuyi-dysfunction endocrine).
I-Neutropenia izokhonjwa ngokubala okuphelele kwegazi (i-CBC) . Ngokuvamile, ekubonisweni kuphela inani le-neutrophil lizobe liphansi. Kodwa-ke, ngokuhamba kwesikhathi ezinye iziguli zingahlakulela i- pancytopenia (i-anemia ne-thrombocytopenia ngaphezu kwe-neutropenia). I- aspirate yamathambo kanye ne-biopsy kuyodingeka ukuthi ilawule ezinye izizathu ze-neutropenia. Iziguli ezine-SDS zisengozini yokuthuthukisa i-myelodysplastic syndrome noma i-acute myeloid leukemia ( AML ), ngakho-ke ukuhlolwa komnkantsha wamathambo kuzokwenziwa njalo ukuze kuqaphele lezi zimo.
I-SDS ine-diagnosis yezokwelapha esekelwe ekubeni khona kwe-cytopenia (i-neutropenia, i-anemia, noma i-thrombocytopenia) nokungasebenzi kwe-pancreatic. Ukuvivinya izifo kungathunyelwa ukuqinisekisa ukuxilongwa, kepha akudingeki.
Yiziphi Izindlela zokwelapha?
Ukwelashwa kugxila emiphakathini emibili yomzimba oyinhloko ethintekile: ama-pancre kanye nomnkantso wamathambo.
Ukungasebenzi kahle kwepancretic kuphathwa ngokufanayo ne-cystic fibrosis.
- Ama-enzyme e-panalretic ovuthwa athathwa ngokudla (futhi ngezinye izikhathi ayadla ukudla) ukuthuthukisa ukumuncwa kwezakhi ezivela ekudleni. Njengenkathi yesiguli, umsebenzi we-pancreatic ungathuthukisa futhi u-enzyme ye-pancreatic kungenzeka ukuthi awusadingeki.
- Ukwengeza, amavithamini ama-vitamin (a, D, E, K) anamafutha angase aphansi futhi adinga ukushintshwa.
Ukuhluleka komnyobo wethambo:
- Ama-antibiotics: Ngokufanayo nezinye izimo zezokwelapha nge-neutropenia, umkhuhlane uyisimo esiphuthumayo sezokwelapha. Imfucuza idinga ukuhlolwa ngumsebenzi wezokwelapha, umsebenzi wegazi (inani eliphelele legazi kanye namasiko egazi okungenani ubuncane), futhi okungenani umthamo owodwa we-antibiotics (intravenous (IV). Uma i-neutropenia inzima (inani eliphelele le-neutrophil <500), ukungena kwe-antibiotic ye-IV kuze kube yilapho ukutheleleka kungaqedwa.
- I-Filgrastim (i-granulocyte colony stimulating factor): Lokhu kunganikezwa njengesilwane esingaphansi kwesikhumba (ngaphansi kwesikhumba) nsuku zonke ukwandisa i-ANC nokuvimbela izifo.
- Ukumpontshelwa igazi: I-Red cell cell noma i-platelet transfusions inganikezwa iziguli ezenza i-anemia kanye / noma i-thrombocytopenia.
- Ukufakelwa kwe-bone marrow: Uma i-neutropenia iqhubekela phambili e-pancytopenia, ukuguqulwa komnkantsha wamathambo kuyindlela yokwelapha yokwelashwa kuphela etholakalayo. Ngokufanele, ukufakelwa kwe-bone lomnkantsha kufanele kwenzeke ngaphambi kokuthuthukiswa kwe-AML njengoba ukuguqulwa kwesibalo kuhla kakhulu uma i-AML iqala.
Umthombo:
Rogers ZR. I-Shwachman-Diamond Syndrome. Ku: Phezulu, I-post TW (Ed), UpToDate, Waltham, MA.