Obutoffaali bwo obumyufu nabwo bufuuse ‘spherical’? Ka twogere ku bulwadde bwa spherocytosis obw’obuzaale!

Oluusi ebintu bibaawo munda mu mibiri gyaffe nga tetumanyi na kukimanya. Ggwe oba omuntu yenna mu maka go owulira ng’okooye buli kiseera? Mpozzi olususu lwo lufuuka lwa kyenvu katono, oba okaluubirirwa okussa? Bino oluusi biyinza okuba obubonero bw’embeera etali ya bulijjo naye nga nkulu eyitibwa Hereditary Spherocytosis , gye tugenda okwogerako leero. Kale ka tulabe kino kye ki?

Obulwadde bwa Hereditary Spherocytosis kye ki?

Mu ngeri ennyangu, buno bulwadde bwa musaayi obusikira . Ekibaawo obutoffaali bwaffe obumyufu bumenya mangu okusinga ku bwa bulijjo. Kino kireeta embeera eyitibwa hemolytic anemia .

Kati laba, tulina obutoffaali obumyufu mu mibiri gyaffe. Buno bwe butoffaali obutambuza omukka gwa oxygen mu mubiri gwonna. Mu budde obwa bulijjo, obutoffaali buno obumyufu buba nga disiki, nga bufukamidde munda ku njuyi zombi, era buba bugonvu. Ziringa obutono obuyitibwa `donuts`, naye nga tebulina kinnya wakati. Olw’okuba zikyukakyuka mu ngeri eno, zisobola okusika ne mu misuwa emitono ennyo.

Naye mu mbeera eno ey’obuzaale eya spherocytosis, ekibaawo nti enkula y’obutoffaali buno obumyufu ekyuka. Zifiirwa enkula ya disiki ne zifuuka ng’obupiira obutono, oba obw’enkulungo . Obutoffaali buno obw'enkulungo tubuyita spherocytes . Obuzibu buli nti, spherocytes zino tezikyukakyuka nga bwe ziri. Zikaluba katono, kale bwe zitambula mu misuwa naddala nga ziyita mu nseke zisibira ne zimenya mangu. Ziggyibwa mu musaayi mangu okusinga obutoffaali obumyufu obwa bulijjo.

Ani asinga okukosebwa embeera eno?

Obulwadde buno businga kulabibwa mu bantu abava mu Bulaaya ow’omu Bukiikakkono oba mu Amerika ey’obukiikakkono. Kyokka, kiyinza okukosa omuntu yenna mu nsi. Okusinziira ku biwandiiko, abasawo bateebereza nti abantu omu ku buli bantu 2,000 ne 5,000 mu nsi yonna bayinza okuba n’obulwadde buno.

Abasawo batera okuzuula obulwadde buno mu baana abawere oba abato . Abaana abamu batandika okulaga obubonero wakati w’emyaka 3 ne 8. Naye ekyewuunyisa abantu abamu tebalaga bubonero bwonna okutuusa nga bawezezza emyaka 30 oba 40. Oluusi, omwana omuwere bw’alaga obubonero bw’okukendeera kw’omusaayi okw’amaanyi mu wiiki emu ng’azaalibwa, abasawo bateebereza obulwadde buno ne bakola okukebera omusaayi.

Obulwadde bwa spherocytosis obw’ensikirano bukosa butya omubiri gwange?

Ng’oggyeeko okukendeera kw’omusaayi (hemolytic anemia) okwayogeddwako emabegako, abantu bangi abalina obulwadde buno bayinza okufuna embeera endala eziwerako:

• Splenomegaly: Ensigo yaffe eringa ekyuma ekisengejja omusaayi. Aggyawo obutoffaali obumyufu obukadde n’obwonoonebwa. Kale, ezo spherical `spherocytes` zisibira nga zigezaako okuyita mu misuwa emitono egy'ennywanto. Omuwendo gw’obutoffaali obusibye bwe gweyongera, enseke zitandika okuzimba.
• Obulwadde bwa Jaundice:Wano olususu lwo, enjeru z’amaaso go (sclera), n’obuwuka obuyitibwa mucous membranes lwe bifuuka ebya kyenvu. Obutoffaali obumyufu bwe bumenyeka amangu, ekintu ekya kyenvu ekiyitibwa bilirubin kikuŋŋaana mu musaayi gwo. Jaundice ebaawo nga omuwendo gwa bilirubin ono gulinnye.
• Amayinja mu nnyindo: Singa omuwendo gwa bilirubin gusigala nga guli waggulu, amayinja g’omu nnyindo gasobola okutondebwawo.

Bubonero ki obw’okukendeera kw’omusaayi (hemolytic anemia) obuva ku kusasika kw’obutoffaali bw’omusaayi?

Ng’oggyeeko jaundice n’okuzimba enseke, wayinza okubaawo obubonero obulala obuwerako:

• Obuzibu mu kussa (dyspnea): Kino kibaawo nga tewali butoffaali bumyufu bumala okutambuza omukka gwa oxygen omubiri gwe gwetaaga.
• Obukoowu: Owulira ng’okooye nnyo ekikulemesa okukola emirimu gya buli lunaku.
• Omutima okukuba amangu (tachycardia): Omutima gutandika okukuba amangu okusinga bwe gulina. Kino bwe kibaawo omutima tegufuna budde bumala kujjula musaayi ekikendeeza ku mukka gwa oxygen omubiri gwe gwetaaga.
• Puleesa: Puleesa ebeera wansi okusinga bwe kisuubirwa.

Buli muntu afuna embeera zino zonna?

Nedda, si bwe kiri. Abasawo embeera eno, Hereditary Spherocytosis, bagigabanya mu biti bisatu (oluusi wabaawo ekika eky’okuna, eky’ekigero/ eky’amaanyi ), okusinziira ku ngeri y’obubonero.

• Mild: Ekika kino kirimu abalwadde 20% okutuuka ku 30%. Balina obulwadde bw’okubulwa omusaayi (hemolytic anemia). Kyokka obubonero obulala tebulabika okutuusa nga bawezezza emyaka 30 oba 40.
• Eky’ekigero: Abalwadde abali wakati wa 60% ne 75% bagwa mu kiti kino. Kuno kw’ogatta abaana abawere n’abaana abato. Bayinza okuba n’omusaayi omutono oba ogw’ekigero n’obulwadde bwa jaundice.
• Severe: Eno y’engeri esinga okuba ey’amaanyi. Abalwadde nga 5% bagwa mu kiti kino. Abalongo balaga obubonero bw’okukendeeza ku musaayi ogw’amaanyi mu wiiki emu nga bazaalibwa.

Kiki ekivaako kino?

Nga erinnya bwe liraga, eno mbeera ya nsikirano, ekitegeeza nti esiigibwa okuva mu bazadde okutuuka mu baana . Ffenna tufuna kkopi z’obuzaale okuva mu bazadde baffe. Singa wabaawo enkyukakyuka yonna , oba enkyukakyuka, mu buzaale buno, zisobola okusiigibwa abaana baffe. Mu bulwadde bwa spherocytosis obw’obuzaale, embeera eno ereetebwa enkyukakyuka mu buzaale butaano . Obuzaale buno buwandiika puloteyina ezikola ekisusunku eky’ebweru eky’obutoffaali obumyufu. (Obuzibu bw’obulwadde buno businziira ku kika ky’enkyukakyuka.)

Abantu nga 75% abalina obulwadde buno babusikira mu ngeri ya autosomal dominant . Kino kitegeeza nti kyetaagisa obuzaale bumu bwokka obukyusiddwa okuva ku muzadde omu okuleeta obulwadde buno. Omwana azaalibwa omuzadde alina obuzaale obukyusiddwa alina emikisa 50% okusikira obuzaale obwo.

Abalala bagisikira singa basikira kkopi emu ey’obuzaale obukyusiddwa okuva mu bazadde bombi. Kino kiyitibwa enkola ya autosomal recessive pattern. Mu mbeera eno, abazadde baba basitula bokka era ebiseera ebisinga tebalaga bubonero.

Abasitula obulwadde buno babiri bwe bazaala, buli mwana alina emikisa 25% okukwatibwa obulwadde buno, emikisa 50% okufuuka omusawo, n’emikisa 25% obutakwatibwa.

Kiki ekibaawo ng’obuzaale buno bukyuse?

Obutoffaali bwaffe bwonna bulina oluwuzi lw'obutoffaali . Kino kye kyawula ebiri mu katoffaali ku mbeera ey’ebweru ne kikuuma. Olususu lw’obutoffaali obumyufu lukolebwa oluwuzi olugonvu ebweru ate munda n’amagumba agayitibwa cytoskeleton , nga lukolebwa obutoffaali obubugatta wamu.

Obutoffaali obumyufu bwetaaga okufukamira, okukyusakyusa n’okukyusa enkula. Bw’etyo bwe zisobola okusika mu misuwa emitonotono ne ziyita mu nnywanto. Lowooza nga bwe tuzinga essaati ennyogovu mu kkeesi ejjudde ennyo. Olususu lw’obutoffaali obumyufu lusobola okukyusa ekifaananyi nga kyetaagisa, ate nga lukuuma enkula yaalwo ey’enjawulo eya disiki.

Mu spherocytosis ey’obuzaale, enkyukakyuka mu buzaale zikwata ku puloteyina mu luwuzi lw’obutoffaali obumyufu. Kino kitaataaganya akakwate wakati w’amagumba g’obutoffaali (cytoskeleton) n’oluwuzi olw’ebweru. Olwo ensengekera y’obutoffaali (cytoskeleton) tesobola kuwa buwagizi eri oluwuzi olw’ebweru. N’ekyavaamu, obutoffaali obumyufu bukyuka okuva mu nkula yaago eya disiki ekyukakyuka ne bufuuka ``sferocytes'' ezikaluba, ez’enkulungo.

Abasawo bazuula batya obulwadde buno?

Abasawo bazuula obulwadde buno nga batunuulira obubonero bwo, nga babuuza ku byafaayo by’obujjanjabi bwo n’ab’omu maka go, era nga bakola ebigezo ebiwerako. Ebigezo bino biyinza okuli:

• Okubala omusaayi mu bujjuvu (CBC): Kino kiwa amawulire agakwata ku musaayi gwo n’obulamu bwo okutwalira awamu.
• Peripheral blood smear: Kino kikebera obunene n’enkula y’obutoffaali bw’omusaayi. Era esobola okukebera oba waliwo obutoffaali obuyitibwa spherocytes.
• Omuwendo gw’obutoffaali obuyitibwa reticulocyte count: Kino kikebera oba obusimu bwo bukola obutoffaali obumyufu obumala.
• Okukebera obutereevu antiglobulin (Direct antiglobulin - Coombs test): Kino kikebera oba temuli musaayi mu mubiri (autoimmune hemolytic anemia).
• Bilirubin level: Okukebera omusaayi okukebera oba bilirubin mu musaayi mungi.
• Red cell osmotic fragility: Kino kipima engeri obutoffaali obumyufu gye bwangu okumenya.
• Plasma membrane electrophoresis: Eno nkola ya njawulo ekozesa ekifo ky’amasannyalaze okwawula DNA, RNA oba puloteyina okuva mu ggelu oba amazzi. Kitunuulira puloteyina ki ku luwuzi lw’obutoffaali obumyufu erina enkyukakyuka.

Kino kikwatibwa kitya?

Enkola z’obujjanjabi zaawukana okusinziira ku bubonero. Okugeza, omwana omuwere alina okukendeeza ku musaayi ogw’amaanyi ayinza okuteekebwamu omusaayi ne/oba eddagala erizimba erythropoietin-stimulating agents (ESAs) amangu ddala ng’embeera eno ezuuliddwa. ESAs ddagala eriyamba okukola obutoffaali obumyufu.

Obujjanjabi obulala bwe buno bwe buno:

• Phototherapy: Obujjanjabi obutono obuweebwa okujjanjaba obulwadde bwa jaundice mu baana abaakazaalibwa.
• Okuteekebwamu omusaayi: Omusaayi guweebwa ng’eddagala eriweweeza ku kukendeera kw’omusaayi.
• Okuggyamu enseke: Okulongoosebwa okuggyibwamu enseke ng’obujjanjabi bw’embeera enzibu.
• Cholecystectomy: Okulongoosa kuno kukolebwa ng’obujjanjabi bw’amayinja mu nnyindo.
• Obujjanjabi obuyitibwa iron chelation therapy: Okuteekebwamu omusaayi enfunda eziwera kiyinza okuvaako ekyuma ekisukkiridde okuzimba mu mubiri (hemochromatosis) . Enzijanjaba eno ekozesebwa okuggyamu ekyuma kino ekisukkiridde.

Obulwadde bwa spherocytosis obw’obuzaale busobola okuziyizibwa?

Singa omuntu mu maka go alina obulwadde buno, kwe kugamba, singa wabaawo ebyafaayo by’obuzaale, kiba kizibu okubuziyiza. Kubanga kintu ekiva mu buzaale. Naye ekisinga obukulu okujjukira nti olw’okuba omuntu mu maka go alina obulina, tekitegeeza nti ggwe oba abaana bo ddala mujja kufuna obulwadde buno.

Okugeza singa osikira obuzaale obukyusiddwa okuva ku omu ku bazadde bo, emikisa 50% egy’okufuna obulwadde buno. Singa osikira obuzaale obukyusiddwa okuva mu bazadde bombi, olina emikisa gya bitundu 25% okukwatibwa obulwadde buno. Ekirala, emikisa 50% nti ojja kuba mutambuza obulwadde buno n’otolaga bubonero bwonna.

Bw’oba ​​olina ekikweraliikiriza oba ekikweraliikiriza ku nsonga eno, osobola okwogera n’omusawo wo oba omwana wo ku ky’okukeberebwa obulwadde bwa spherocytosis obw’ensikirano. Ebinaavaamu bijja kukuyamba okumanya oba ggwe oba omwana wo mwasikira enkyukakyuka mu buzaale. Olwo osobola okufuna ekirowoozo ku ky’osuubira.

Omusawo wo ajja kukunnyonnyola ebyava mu kukeberebwa kye bitegeeza, oba obulwadde buno butono, bwa kigero oba bwa maanyi, embeera ki eziyinza okubaawo mu biseera eby’omu maaso, n’obubonero bwazo obusooka.

Kiki kye nsuubira singa nze/omwana wange alina embeera eno?

Abantu abasinga abalina obulwadde bwa heditary spherocytosis balina prognosis ennungi . Kyokka, si buli muntu nti y’omu. Entegeera y’obulwadde yo oba omwana wo esinziira ku bintu ng’obuzibu bw’obulwadde, oba olina ebizibu ebirala eby’obulamu, n’obulamu bwo okutwalira awamu.

Omwana wange alina obulwadde bwa spherocytosis obw’ensikirano. Nnyinza ntya okumulabirira?

Okukyalira abaana abalina obulwadde buno buli kiseeraKino kikolebwa okulondoola obulamu bwabwe okutwalira awamu n’okukebera obubonero obupya, gamba ng’okukendeera kw’omusaayi oba amayinja mu nnyindo. Singa omwana wo yeetaaga okuteekebwamu omusaayi enfunda eziwera, abasawo bayinza okukuwa amagezi okugema akawuka ka hepatitis B . Era bayinza okukuwa amagezi ku mitendera gy’oyinza okuyitamu okukuuma omwana wo okuva ku buwuka obuleeta akawuka, gamba nga parvovirus B19 , akayinza okuleeta obuzibu mu bulamu obw’amangu, obw’amaanyi.

Obulwadde bwa Hereditary spherocytosis bulwadde bwa musaayi obutatera kusikira nga bwetaagisa okujjanjabibwa obulamu bwonna . Abasawo basobola okujjanjaba embeera z’obulamu oluusi ez’amaanyi ezireetebwa obulwadde buno. Kyokka tewali ddagala liwonya buzibu buno mu musaayi.

Nsembayo, nnina okugamba... (Obubaka bwa Take-Home)

Okubeera n‟obulwadde obutawona, oba okulabirira omuntu alina obulwadde buno, si kyangu bulijjo. Era kiyinza n’okusingawo okukaluba ng’obeera n’embeera abantu bangi gye batamanyi wadde oba gye batawulirako. Singa ggwe oba omwana wo olina obulwadde bwa spherocytosis obw’ensikirano, oyinza okuwulira ng’oyitiridde, ng’oli wekka, era nga tolina muntu gw’oyinza kuddukirako kuyambibwa.

Tofaayo. Yogerako n’omusawo wo. Bajja kukola kyonna ekisoboka okukuyamba n’omwana wo. Bajja kusanyuka okuddamu ebibuuzo byo. Jjukira nti toli wekka mu lugendo luno. Osobola okufuna obuwagizi n’amawulire ge weetaaga.

Nsuubira nti amawulire gano ga mugaso gy’oli. Sigala nga oli mulamu bulungi!

` Obulwadde bwa spherocytosis obw’ensikirano, obutoffaali obumyufu, okukendeera kw’omusaayi, ennywanto, endwadde ez’obuzaale, obuzaale, endwadde z’omusaayi, jaundice, amayinja mu nnyindo