I-Genetics, izimpawu, nokuxilongwa kwe-PKD
Isifo Sezinso Zama-Polycystic, noma i-PKD, isimo esithile sezofuzo zesifo sezinso. Njengoba leli gama libonisa, "poly" -cystic ibhekisela ekubeni khona kwama-cysts amaningi (amasondo avaliwe, angenalutho, ngezinye izikhathi agcwele uketshezi) ezinso. Ama-cysts wezinso ngokujwayelekile akuzona ukutholakala okungavamile, kepha ukuxilongwa kwama-cysts ezinsweni akuyona i-PKD.
I-PKD, eqinisweni, ingenye yezizathu eziningi zokuthi kungani umuntu angakha ama-cysts ezinso.
Kuyinto ifa eliqondene nezofuzo kanye ne-PKD eyenza ibe yinto ecacile kakhulu. Akuyona isifo esiyingozi, futhi ingxenyana enkulu yeziguli ingabona izinso zabo ziyeke ukwehluleka, zidinga i- dialysis noma ukufakelwa kwezinso.
Ezinye izinhlobo ze-Cysts
Olunye uhlobo lwama-cysts wezinso (okungewona ama-cysts ahlobene ne-PKD) afaka:
- Ama-cysts ajwayelekile, ngokuvamile awumphumela omuhle wokuguga. Amaphesenti angaba ngu-12 abantu abaneminyaka engama-50 kuya ku-70 kanye namaphesenti angu-22.1 kubo bonke abantu abaneminyaka engaphezu kwengu-70 bayoba ne-cyst eyodwa kwezinso.
- Okubi (uma ama-cysts angaba ummelevuza ezintsheni, ngezinye izikhathi kuthiwa yi-cysts eziyinkimbinkimbi).
- Kutholakale, njengalabo abagulayo abanesifo esingenasifo sezinso (CKD).
Ngakho-ke, uma ama-cysts ephawulwe ezinso, isinyathelo esilandelayo ukuhlukanisa ukuthi ngabe kuyinhlangano ehlobene nokudala ubudala, i-PKD, noma enye into.
I-Genetics
I-PKD isifo esibucayi kakhulu se-genetic, esithinta abantu abangaba ngu-1 kubantu abangu-500, futhi isaba imbangela ebangela ukuhluleka kwezinso .
Lesi sifo sivame ukuzuza njengefa kubazali (amaphesenti angama-90 wamacala), noma, ngokungajwayelekile, iqala "de-novo" (ebizwa ngokuthi i-mutation).
Ukuqonda izakhi zofuzo ze-PKD kubalulekile ukuqonda izimpawu zesifo kanye nenkambo. Imodi yefa kusuka komzali kuya komntwana ihlukanisa phakathi kwezinhlobo ezimbili ze-PKD.
I-PKD e-Autosomal ephezulu (i-AD-PKD) ifomu elivame kakhulu elizuzwe njengefa futhi amaphesenti angama-90 we-PKD amacala yilolu hlobo. Izimpawu zivame ukukhula esikhathini esizayo empilweni ephakathi kweminyaka engu-30 kuya ku-40, nakuba isethulo ebuntwaneni engaziwa.
Izakhi zofuzo ezingavamile zingaba yi-PKD1, PKD2, noma i-PKD3. Yikuphi kulezi zakhi zofuzo ezinokuguqulwa komzimba nokuthi yiluhlobo luni lokuguqulwa okungenzeka lube nomthelela omkhulu kumphumela olindelekile we-PKD. Isibonelo, isakhi se-PKD1, esitholakala ku-chromosome 16, yisayithi eliguquguquka kakhulu lokuguqulwa elibonwe kuma-85% wamacala we-ADPKD. Izinkinga ezakhiweni (njengoba kunjalo nezinye izinguquko) ziholela ekukhuleni okwandayo kwamangqamuzana e-epithelial ezinso zezinso ze-cyst.
I-PKD e-Autosomal Recessive (AR-PKD) idlula kakhulu futhi ingaqala ekuqaleni, ngisho nalapho ingane iqala ngesikhathi sokukhulelwa. Esinye sezizathu zokuthi lolu hlobo lwe-PKD aluvamile ngoba iziguli ezithintekile ngokuvamile ngeke ziphile isikhathi eside ngokwanele ukuze zizalise futhi zidlule ukuguqulwa kwezingane zabo.
Futhi, ukufingqa, amaphesenti angama-90 ama-PKD amacala azuzwe njengefa, kanye nezinhlobo ezizuzwe njengefa, amaphesenti angama-90 angama-autosomal aphezulu. Ngakho-ke, iziguli ezine-PKD zivame ukuba ne-PKD ephezulu (AD-PKD) ye-autosomal.
Indawo enobunzima nokushintshwa
Isayithi lokuguqulwa komzimba liyoba nomthelela eklasini lesifo.
Ngokuguqulwa kwe-PKD2, ama-cysts akhula ngokuhamba kwesikhathi, futhi ukuhluleka kwenqunu ngokuvamile akukwenzeka kuze kube sekwephuzile njengoba sekuphakathi kweminyaka engu-70. Qhathanisa lokhu nokuguqulwa kwezakhi ze-PKD1, lapho iziguli zingahlakulela ukuhluleka kwezinso phakathi nawo-50s.
Iziguli ezinokuguqulwa kwe-PKD2 ngeke zikwazi ngisho nomlando womndeni we-PKD. Kulesi simo, kungenzeka njalo ukuthi ukhokho ophethe ukuguqulwa komzimba wafa ngaphambi kokuba lesi sifo sibe nzima ngokwanele ukudala izimpawu noma kudinga i-dialysis.
Izimpawu
Izimpawu ezihlukahlukene zingabonakala ku-PKD. Izibonelo ezivamile zifaka:
- Ubuhlungu be-Flank ngenxa yokwandisa izinso
- Izifo ezithinta u-Urinary
- Amatshe wezinso (ngenxa yokugeleza komchamo ophuthumayo kuma-cysts)
- Ama-cyst angaba khona kwezinye izitho ezinjenge-isibindi nama-pancre
- Iziguli zivame ukuba nomfutho wegazi ophakeme wanikezwa indima 'indima ekulawulweni komfutho wegazi
Ukuxilongwa
Nakuba izinguquko zePKD zivame ukutholakala lapho zizalwa, izinsoza zezinso kungenzeka zingabonakali ngaleso sikhathi. La ma-cysts akhule abe ngamasaka agcwele ama-sacs agcwele amaphuzu eminyaka eminyaka yokuqala, ngaleso sikhathi angase aqale ukwenza izimpawu noma izimpawu ngesikhathi umuntu efika eneminyaka engama-30. Nokho, ukuthuthukiswa kwezinso zezinso kuze kube seqophelweni lokuhluleka kungathatha amashumi eminyaka kusukela ngaleso sikhathi kuya phambili.
Iningi labantu abawazi ngomlando womndeni we-PKD banomkhawulo ophansi wokutholakala ne-PKD kusukela kokubili iziguli futhi odokotela bayazi kahle isimo esiqinile somndeni wesifo. Ezimweni lapho umlando womndeni ungase ungaziwa noma kubonakala sengathi "ujwayelekile," ukuxilongwa kuyinselele futhi kudinga ukuhlolwa ngu-nephrologist. Kulesi simo, umzali othintekayo kungenzeka ukuthi ushonele ngaphambi kokuba lesi sifo sithole ithuba lokuqhubeka nesifo sesifo sezinso. Okokugcina, uma kungukuthi "ukuguquguquka okuzenzakalelayo," kungase kungabi khona i-PKD okwamanje kunoma yimuphi umzali.
Ukuxilongwa kokuqala kwe-PKD kwenziwa ngokusebenzisa izifundo ze-imaging njenge-ultrasound noma i-CT scan. Kodwa-ke, ngenxa yokuthi othile unama-cysts amaningi ezintsheni akusho ukuthi bane-PKD. Kungenzeka kube yi-cysts eyodwa-eminingi kakhulu, noma amanye amathuba afana ne-medullary cystic isifo sezinso (akufani neze-PKD).
Uma ukuxilongwa kungabaza, ukuhlolwa kwezakhi zofuzo kungaqinisekisa noma kuphikise ukuxilongwa. Ukuvivinya i-genetic kuvame ukuba kubi kakhulu kanti futhi kuyasetshenziswa kakhulu uma ukuxilongwa kuhambisana nokulingana.
Isifo Sokugula
Kuzoze kube nini labo abanePKD bathathe ukuhluleka kwezinso? Lokhu mhlawumbe umbuzo owodwa owodwa abantu abavele bathola ukuthi banePKD. Esikhathini esibi kunazo zonke lapho iziguli zithuthuka khona ukuqedela ukuhluleka kwe-renal, zidinga i-dialysis noma ukufakelwa kabusha, ukusebenza kwezinso (GFR) kungancipha ngamaphuzu angu-5 ngonyaka. Ngakho-ke, umuntu oqala nge-GFR engama-50 angafinyelela ku-GFR emihlanu eminyakeni engaba yisishiyagalolunye, ngaleso sikhathi i-dialysis noma ukufakelwa kwe-transplantation kungadingeka ngempela.
Qaphela ukuthi akuzona zonke iziguli ezine-PKD ezizokwehla ukuqedela izinso zezinso. Okudingekile ukugcizelelwa ukuthi akuwona wonke umuntu onayo i-PKD oyoqhubeka efika lapho edingwa khona nge-dialysis. Iziguli ezine-PKD2 izakhi zofuzo zimelela ithuba elingcono lokugwema ukuhluleka okuphelele kwezinso. Yingakho, njengenhlangano yonke, ingaphansi kwengxenye eyodwa kwengxenye yamacala e-PKD izotholakala ngesikhathi sokuphila kwesiguli, njengoba lesi sifo singasithuli emtholampilo.
> Imithombo:
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> KM Thong ACM Ong. Umlando wemvelo we-autosomal isifo esiyinhloko se-polycystic yezinso: isipiliyoni seminyaka engu-30 esivela esikhungweni esisodwa. I-QJM: I-International Journal of Medicine , Umqulu 106, Issue 7, 1 ku-Julayi 2013, amakhasi 639-646
> Torres VE, i-Harris PC, i-Pirson Y. Autosomal isifo esiyinhloko se-polycystic yezinso. I-Lancet 2007 Apr 14; 369 (9569): 1287-301
> Davies F, Coles GA, i-Harper PS. Izifo Zezinso Zama-Polycystic Zihlolisisiwe: Isifundo Esisuselwa Kwabantu. I-QJM: I-International Journal of Medicine , Umqulu 79, Issue 3, 1 Juni 1991, amakhasi 477-485
> I-United States I-Renal Data System. Umbiko we-data ngonyaka ka-2016 we-USRDS: I-Epidemiology yezifo zezinso e-United States. Izikhungo Zempilo Zesizwe, Isikhungo Sikazwelonke Sesifo Sikashukela kanye Nezifo Zezinyosi Nezinso, Bethesda, MD, 2016.