Genetics, bayyanar cututtuka, da kuma ganewar asali na PKD
Magungunan ƙwayar cutar ta Polycystic, ko PKD, wani nau'i ne na kwayar cutar koda. Kamar yadda kalma ta nuna, "poly" -cystic yana nufin kasancewa da kyamarori masu yawa (rufe, komai maras kyau, wani lokaci ana cika da ruwa) a koda. Kyau koda a cikin janar ba wani abu ba ne wanda ya samo asali, amma samfurin kwayoyin cysts a cikin koda ba dole ba ne PKD.
PKD, a gaskiya ma, yana daya daga dalilai da dama da ya sa mutum zai iya bunkasa cysts a koda.
Yana da ƙayyadadden kayyadadden jinsin halitta da kuma hanyar PKD da ke sa shi ainihin mahaluži. Ba lafiyar ciwo ba ne, kuma wani babban ɓangare na marasa lafiya zai iya ganin kodaninsu ya ƙi cin nasara, yana bukatar haɓaka ko ƙwaƙwalwar koda.
Sauran Nau'in Cysts
Sauran nauyin kaya na koda (wanda ba su da dangantaka da PKD) sun hada da:
- Sakamakon gyaran ƙwayoyi masu sauki, wanda yawancin su ne sakamakon sakamako na tsufa. Kusan kashi goma sha biyu na mutanen da ke da shekaru 50 zuwa 70 da kuma 22.1 bisa dari na dukkanin wadanda shekarun da suka wuce 70 suna da akalla daya daga cikin kwayoyin cutar cikin koda.
- M (lokacin da cysts zai iya zama wakiltar ciwon daji a cikin kodan, wani lokaci ana kira ƙwayoyin kyamara).
- An samu, kamar yadda a cikin marasa lafiya tare da cutar koda ta kullum (CKD).
Saboda haka, idan aka lura da kyakoki a cikin koda, mataki na gaba shi ne ya bambanta ko yana da alaƙa mai shekaru, PKD, ko wani abu dabam.
Genetics
PKD wani cututtukan kwayoyin halitta ne da aka saba da su, wanda ya shafi kusan mutane 1 cikin 500, kuma ya kasance babban abin da ya haifar da gazawar koda .
Yawancin lokaci ana cutar da cutar daga iyayensu (90 bisa dari na lokuta), ko, mafi mahimmanci, yana tasowa "de-novo" (wanda ake kira maye gurbi).
Yin fahimtar kwayoyin halitta na PKD yana da mahimmancin fahimtar cutar 'bayyanar cututtuka da hanya. Yanayin gado daga iyaye da yaro ya bambanta tsakanin nau'i biyu na PKD.
PKD mai rinjaye (AD-PKD) shi ne mafi kyawun gado kuma kashi 90 cikin 100 na kamfanonin PKD irin wannan ne. Kwayoyin cututtuka suna ci gaba da cigaba a rayuwa a cikin shekarun shekaru 30 zuwa 40, ko da yake gabatarwa a ƙuruciya ba a sani ba.
Kwayoyin magunguna zasu iya kasancewa kwayoyin PKD1, PKD2, ko PKD3. Wanne daga cikin wadannan kwayoyin yana da maye gurbi da wane nau'i na maye gurbin da zai iya samun babbar tasiri akan sakamakon da aka sa ran PKD. Alal misali, ƙwayar PKD1, wadda take a kan chromosome 16, ita ce shafin mutation mafi yawan da aka gani a cikin kashi 85 cikin dari na ADPKD. Dama a cikin kwayar halitta (kamar yadda yake tare da wasu maye gurbi) ya haifar da ƙara yawan ciwon kwayoyin epithelial a cikin koda da kuma samfurin cyst.
Kwancen PKD na Ƙarshe (AR-PKD) yana da sauri kuma yana iya farawa da wuri, koda yayin da jaririn ya taso a lokacin ciki. Ɗaya daga cikin dalilan irin wannan PKD yana da wuya saboda yawan marasa lafiya da suka kamu da cutar bazai zama tsawon lokaci ba don haifuwa da kuma sanya juyawa zuwa ga 'ya'yansu.
Bugu da ƙari, don taƙaitawa, kashi 90 cikin dari na ƙwayoyin PKD ne aka gaji, kuma daga cikin nau'o'in kabilu, kashi 90 cikin dari suna da rinjaye. Saboda haka, marasa lafiya tare da PKD zasu fi samun rinjaye na PKD (AD-PKD).
Girma da Mutunci Location
Shafin da maye gurbi zai shafi tasirin cutar.
Tare da maye gurbin PKD2, cysts zai cigaba da yawa daga baya, kuma yawancin gazawa bai faru ba har zuwa farkon shekarun 70s. Ya bambanta wannan tare da maye gurbin PKD1, inda marasa lafiya zasu iya ci gaba da gazawar koda a tsakiyar shekarun 50s.
Magunguna tare da maye gurbin PKD2 ba sau da yawa ba su san kowane tarihin iyali na PKD ba. A wannan yanayin, yana da yiwuwar yiwuwar cewa magabatan da ke ɗauke da maye gurbi ya mutu kafin cutar ta kasance mai tsanani don haifar da bayyanar cututtuka ko kuma buƙatar buƙata.
Cutar cututtuka
Ana iya ganin nau'o'in bayyanar cututtuka a PKD. Misalai na kowa sun haɗa da:
- Flank zafi saboda kara girma kodan
- Hanyoyin da ke cikin mahaifa
- Tushen koda (saboda jinkirin fitsari mai gudana a cikin cysts)
- Cysts zai iya kasancewa a wasu gabobin kamar hanta da kuma pancreas
- Marasa lafiya sun kasance suna da cutar hawan jini da aka ba da kodan 'takara a tsarin karfin jini
Sanin asali
Kodayake maye gurbin ga PKD yawanci suna a lokacin haifuwa, koda koda za a iya bayyana a wancan lokacin. Wadannan tsirrai suna girma a cikin jakar jinsin da aka cika a cikin shekarun da suka gabata, a lokacin da zasu fara haifar da bayyanar cututtuka ko alamu yayin da mutum ya kai shekaru 30. Duk da haka, cigaba da cututtukan koda zuwa ga rashin nasara zai iya daukar shekarun da suka gabata daga nan zuwa.
Yawancin mutanen da suka san tarihin iyali na PKD suna da ƙananan ƙoƙarin da aka gano tare da PKD tun lokacin da marasa lafiya da likitoci sun san ainihin yanayin iyali na cutar. A cikin lokuta inda tarihin iyali bazai san ko kuma yana da "al'ada," ganewar asali ya fi kalubale kuma yana buƙatar kwarewa ta hanyar nephrologist. A wannan yanayin, iyaye masu cutar sun iya mutuwa kafin cutar ta kasance damar samun cigaba ga cutar koda. A ƙarshe, idan ya kasance batun "maye gurɓatacce," babu yiwuwar PKD a cikin iyaye ɗaya.
An fara gane asali na PKD ta yin amfani da nazarin binciken kamar duban dan tayi ko CT scan. Duk da haka, saboda wani yana da kyakoki mai yawa a cikin kodan baya ba dole ba ne cewa suna da PKD. Zai iya zama wani abu ne kawai wanda yake da yawa mai tsabta mai sauƙi, ko kuma wasu hanyoyi irin su cututtukan koda (ba kamar PKD) ba.
Lokacin da ganewar asali ya kasance a cikin shakka, gwajin kwayoyin zai iya tabbatar ko ƙin ganewar asalin. Nazarin kwayoyin halitta ba ya da tsada kuma duk da haka ana amfani da shi mafi yawa lokacin da ganewar asali ta kasance daidai.
Kwayar cutar
Har yaushe wadanda suke tare da PKD zasu dauki su don ci gaba da gazawar koda? Wannan shi ne watakila lambar tambaya guda daya da mutanen da aka gano da PKD zasu sami. A cikin mummunar yanayin yanayin inda marasa lafiya ke ci gaba don kammala gazawa, wanda ya buƙaci dialysis ko sashi, aiki na koda (GFR) zai iya komawa ta kusan maki biyar a kowace shekara. Saboda haka, wanda ke farawa tare da GFR mai shekaru 50 zai iya zuwa GFR na biyar a cikin kimanin shekaru tara, a lokacin da za a buƙatar lokaci-lokaci ko haɓakawa.
Lura cewa ba duk masu haƙuri tare da PKD ba dole ne su ƙi ƙin gamawar koda. Abin da har yanzu ya kamata a karfafa shi shine cewa ba kowa da kowa tare da PKD ba dole ne ya ci gaba da ci gaba zuwa mahimmanci inda suke buƙatar dialysis. Magunguna da PKD2 sunada maye gurbi a fili suna tsayawa mafi kyau don guje wa cikakkiyar gazawa. Wannan shi ya sa, a matsayin cikakke, ba za a bincikar da kwayar cutar PKD ba fiye da rabi a yayin rayuwar mai haƙuri, saboda cutar zata iya yin shiru.
> Sources:
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> KM Ƙarin ACM Ong. Tarihin halitta na autosomal rinjaye polycystic koda cuta: shekaru 30 kwarewa daga cibiyar daya. QJM: Cibiyar Nazarin Labaran Duniya , Volume 106, Issue 7, 1 Yuli 2013, Shafukan 639-646
> Torres VE, Harris PC, Pirson Y. Autosomal rinjaye polycystic koda cuta. Lancet 2007 Apr 14; 369 (9569): 1287-301
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> Ƙungiyar Bayanan Rigar Amurka. 2016 rahoton rahotanni na shekara-shekara na USRDS: Cutar cutar cututtuka a Amurka. Cibiyoyin Kula da Lafiya na Ƙasar, Cibiyar Cibiyar Ciwon Ciwon sukari da Inganta Abinci da Kwayoyin Cututtuka, Bethesda, MD, 2016.