Ukuhlaziywa okufutshane kweMpawu, ukuVilongwa koLwazi kunye noTyango
I-Shwachman Diamond Syndrome (i-SDS) yenye yexabiso lokulahlekelwa komnatha wefa lomnxeba oluhambisana ne-neutropenia kunye ne-pancreatic dysfunction. Ngezinye amaxesha kuthiwa yiShwachman Bodian Diamond okanye iShwachman Diamond Oski Syndrome. Ilifa kwi-autosomal fancy fashion; umntwana ochaphazelekayo kufuneka azuze ifa lomgubo oguqulwe kubazali bobabini.
Ziziphi iiMpawu zoKuzisa?
- I-diarrhea, ngokukodwa i-diarrhea yamanzi ebizwa ngokuba yi- steatorrhea . Oku kubangelwa kwi-pancreas akakwazi ukwenza ii-enzymes eziphazamisayo ezifunekayo ukuze ziphule izondlo ekudleni ukuze zithathwe.
- Izifo eziqhelekileyo ezisecaleni ukuya kwi- neutropenia
- Isiqu esifutshane
- Ukuphakama kwi-enzyme yesibindi
- Izifo ezingaqhelekanga
- IAnemia
- Thrombocytopenia
Kuchongwa njani?
I-SDS inokuba ngumngeni ukufumanisa ukuba zonke iimpawu kunye neempawu akumele zenzeke ngexesha elifanayo. I-Steatorrhea ingaba yimboqo yokuqala kunye ne-neutropenia ikhula emva kweenyanga. Izigulane ziyakwazi ukubona iingcali ezininzi (isisu, i-hematology, i-endocrinology) ukwenzela ukuba ufumane ukuxilongwa ngokufanelekileyo.
Akuqhelekanga ukuba i-steatorrhea kunye nokukwazi ukufumana ubunzima (okubizwa ngokuba nokuhluleka ukukhula) ukuba ibe yimpawu zokuqala zalo mqathango. Le ntetho ifana kakhulu ne- cystic fibrosis , ngoko kuhlolwa kwenzeni.
Xa kuthelekiswa ne-cystic fibrosis, kwi-SDS ukuhlolwa kwesithuthuthu kuya kuba nzima. Uvavanyo olongezelelweyo lungabandakanya i-fecal elastase (uvavanyo lwebhabhi kwi-stool) kunye ne-trypsin (umsebenzi wegazi), zombini olinganisa umsebenzi we-pancreatic. Olu hlobo lwe-pancreatic dysfunction lubizwa ngokuba yi-exocrine pancreas ukungasebenzi (ukuthelekiswa nesifo sikashukela, esiyi-disocrine disk function).
I-Neutropenia iya kubonwa kwibala elipheleleyo legazi (CBC) . Ngokubanzi, ekubonisweni kuphela inani le-neutrophil liya kuba liphantsi. Nangona kunjalo, ngexesha ezinye izigulane ziyakhula i- pancytopenia (i-anemia kunye ne-thrombocytopenia ngaphezu kwe-neutropenia). Kufuneka ukuba umxheshe we-bone aspirate kunye ne-biopsy ukulawula ezinye izizathu ze-neutropenia. Izigulane ze-SDS zisengozini yokuphuhlisa i-myelodysplastic syndrome okanye i-leememiaid leyemiaid ( AML ), ngoko ke ukuhlolwa komnyoba we-bone kuya kwenziwa rhoqo ukuze kuqaphele le miqathango.
I-SDS inokuxilongwa kweklinikhi ngokusekelwe kwi-cytopenia (i-neutropenia, i-anemia, okanye i-thrombocytopenia) kunye ne-pancreatic dysfunction. Ukuvavanya i-genetic kungathunyelwa ukuqinisekisa ukuxilongwa, kodwa akudingeki.
Ziziphi Iingonyango?
Ukunyangwa kugxininiso kwiindlela ezimbini zomzimba ezichaphazelekayo: i-pancreas kunye nomnatha wethambo.
Ukungasebenzi kwepancretic kuphathwa ngokufanayo kwi-cystic fibrosis.
- Ama-enzyme e-panalretic Oral athatyathwa kunye nokutya (kunye ngamanye amaxesha atyala) ukuphucula ukuxutywa kwezondlo ekudleni. Njengeminyaka yobugulane, umsebenzi we-pancreatic unokuphucula kunye ne-enzyme ye-pancreatic ayisenakufuneka.
- Ukongezelela, amanqanaba amavithamini (A, D, E, K) anamafutha amaninzi angase aphantsi kwaye afune ukutshintshwa.
Ukuhluleka komnxeba:
- I-Antibiotics: Efana nezinye iimeko zonyango nge-neutropenia, i-fever iyingozi yonyango. I-Fever idinga ukuvanywa ngumsebenzi wezonyango, umsebenzi wegazi (ukugqiba inani legazi kunye neenkcubeko zegazi ubuncinci), kwaye ubuncinane umthamo owodwa we-intraveous (IV) antibiotics. Ukuba i-neutropenia inzima (i-neutrophil count count <500), ukungena kwi-antibiotic ye-IV kude kube yintsholongwane.
- I-Filgrastim (i-granulocytes colony stimulating factor): Oku kunokwenziwa njengengaphantsi (ngaphantsi kwesikhumba) ijokeji imihla ngemihla ukunyusa i-ANC kunye nokukhusela izifo.
- Ukuxilongwa ngegazi: I-Red cell cell okanye i-platelet transfusion zinganikwa izigulana ezenza i-anemia kunye / okanye i-thrombocytopenia.
- Ukutsalwa komongo we-Bone: Ukuba i-neutropenia iqhubela phambili kwi-pancytopenia, ukutsalwa kwethambo lomnyoba yindlela yokwelapha kuphela ekhoyo. Ngokufanelekileyo, ukutsalwa komongo we-bone kufuneka kwenzeke ngaphambi kokuphuhliswa kwe-AML njengoko ukuhlaselwa kwehla kukuhla kakhulu xa i-AML ikhula.
Umthombo:
Rogers ZR. I-Shwachman-Diamond Syndrome. Ku: U-UpToDate, i-Post TW (Ed), UpToDate, i-Waltham, MA.