Binciken Binciken Halittu, Gwajin Tashin Ciki, da Jiyya
Shwachman Diamond Syndrome (SDS) yana daya daga cikin raunin gazawar kasusuwan kasusuwan da ke da nasaba da neutropenia da rashin ciwon hauka. A wani lokacin ana kiransa Diamond Diamond ko Shwachman Diamond Oski Syndrome. An gada shi a cikin wani tsari na kwashewa; yaron da ya kamu da shi ya zama dole ne ya gaji mutun da ke ciwo daga iyaye biyu.
Mene ne alamun gwadawa?
- Diarrhea, musamman cututtukan da ake kira steatorrhea . Wannan yana haifar da pancreas baza su iya samar da enzymes pancreatic da ake buƙata don karya kayan abinci a cikin abincin ba domin su iya tunawa.
- Cutar da ke faruwa a karo na biyu zuwa neutropenia
- Kwanan lokaci
- Girma a cikin hanta enzymes
- Abun hankalin ƙuƙumma
- Anana
- Thrombocytopenia
Yaya aka gano shi?
SDS zai iya zama ƙalubale don tantance asali kamar yadda duk alamu da bayyanar cututtuka bazai faru ba a lokaci guda. Steatorrhea na iya zama alama ta farko tare da neutropenia cikin watanni masu tasowa baya. Marasa lafiya na iya ganin wasu kwararru (gastrointestinal, hematology, endocrinology) don samun samfurin da ya dace.
Ba abu ne da ba a sani ba ga steatorrhea da rashin iya samun nauyi (wanda ake kira rashin cin nasara) don zama farkon bayyanar cututtuka na wannan yanayin. Wannan gabatarwa yana da kama da kyamacin fibrosis , don haka za a iya gwada gwajin gumi.
Idan aka kwatanta da cystic fibrosis, a SDS gwajin gwagwarmaya zai zama mummunar. Ƙarin gwaji zai iya haɗawa da ƙananan elastase (jarrabawar jarraba a stool) da kuma trypsin (aikin jini), wadanda suka auna aikin aikin pancreatic. Irin wannan mummunan ciwon katako shine ake kira dungfunction (exocrine) dasfunction (idan aka kwatanta da ciwon sukari, wanda shine endocrine panicreatic dysfunction).
Neutropenia za a gano su a cikin cikakken jini (CBC) . Gaba ɗaya, a gabatarwa kawai ƙididdigar neutrophil zai zama ƙasa. Duk da haka, tare da lokaci wasu marasa lafiya zasu iya haifar da pancytopenia (anemia da thrombocytopenia banda neutropenia). Za a buƙatar ɓoyayye mai ɓoye da kwayoyin halitta don yin sarauta akan wasu dalilai na neutropenia. Marasa lafiya tare da SDS suna da haɗari ga ƙaddamar da ciwo na myelodysplastic ko cutar mai cutar myeloid mai zurfi ( AML ), saboda haka za a yi nazari na karɓin kashi kashi akai-akai don saka idanu ga waɗannan yanayi.
SDS na da ganewar asibiti dangane da kasancewar cytopenia (neutropenia, anemia, ko thrombocytopenia) da kuma rashin ciwo na pancreatic. Ana iya aika gwajin kwayoyin don tabbatar da ganewar asali, amma ba'a buƙata.
Mene ne Hanyoyi?
Sosai na mayar da hankali ga tsarin jiki guda biyu da ya shafi: rukuni da kasusuwa.
An yi amfani da dysfunction na Pancreatic daidai da cystic fibrosis.
- An dauki nauyin enzymes na bakin ciki tare da abinci (da kuma wasu lokutan abincin) don inganta shayar da kayan abinci daga abinci. A matsayin shekaru masu haƙuri, aikin pancreatic zai iya inganta da kuma pancreatic enzymes na iya zama ba dole ba.
- Bugu da ƙari, ƙwayoyin bitamin (A, D, E, K) za su iya zama ƙasa kuma suna buƙatar sauyawa.
Bone marrow gazawar:
- Kwayoyin maganin rigakafi: Kamar sauran yanayin kiwon lafiya tare da neutropenia, zazzabi gaggawa ne na gaggawa. Fever yana buƙatar kimantawa ta hanyar likita, aikin jini (cikakken jini da ƙididdigar jini a ƙananan), kuma akalla kashi ɗaya daga cikin maganin rigakafi (IV). Idan neutropenia mai tsanani ne (cikakkiyar tsaka-tsakin neutrophil <500), shigarwa ga kwayoyin kwayoyin cutar har sai kamuwa da kamuwa da cuta zai iya fita.
- Filgrastim (matsanancin ciwon gine-gine): Ana iya ba da wannan a matsayin magunguna (karkashin fata) kowace rana don ƙara ANC kuma hana cututtuka.
- Hanyoyin jini: Za a iya ba da jini ga jini ko jini na sutura ga marasa lafiya wanda ke bunkasa anemia da / ko thrombocytopenia.
- Gwangwadon saɓo mai laushi: Idan neutropenia na ci gaba zuwa pancytopenia, ƙwayar launuka na karuwa shine kawai curative farfadowa akwai. Mafi mahimmanci, haɓakar launuka na kasusuwan ya kamata ya faru kafin a ci gaba da AML kamar yadda matsala ta faɗi sosai idan AML ta taso.
Source:
Rogers ZR. Shwachman-Diamond Syndrome. A: UpToDate, Post TW (Ed), UpToDate, Waltham, MA.