Uvavanyo lwe-ADPKD: Usapho lwakho kunye neMpilo yakho

Umxholo

• Ushwankathelo
• Uvavanyo lwemfuza lusebenza njani
• Iingcebiso zamalungu osapho
• Iindleko zovavanyo kunye novavanyo
• Ukuvavanywa kwe-aneurysm yengqondo
• Imfuza ye-ADPKD
• Ukufunyanwa kwangoko kwe-ADPKD
• Ukuthatha

Ushwankathelo

Isifo sezintso esine-Autosomal esilawulayo (ADPKD) sisimo semfuza esizuzw 'ilifa. Oko kuthetha ukuba inokudluliselwa isuka kumzali iye kumntwana.

Ukuba unomzali one-ADPKD, usenokuba uzuze njengelifa ukutshintsha kwemfuza okubangela esi sifo. Iimpawu ezibonakalayo zesifo zisenokungabonakali kude kube sebomini kamva.

Ukuba unayo i-ADPKD, kukho ithuba lokuba nawuphi na umntwana onokuba naye uya kuphuhlisa imeko.

Ukuvavanywa kwe-ADPKD kunceda ukuxilongwa kwangoko kunye nonyango, ezinokuthi zinciphise umngcipheko weengxaki ezinzulu.

Funda ukuze ufunde ngakumbi malunga nokuvavanywa kosapho kwi-ADPKD.

Uvavanyo lwemfuza lusebenza njani

Ukuba unembali yosapho eyaziwayo ye-ADPKD, ugqirha unokukucebisa ukuba uqwalasele uvavanyo lwemfuzo. Olu vavanyo lunokukunceda ufunde ukuba ulifumene njengelifa iinguqu zofuzo ezaziwayo ukuba zibangela isifo.

Ukuqhuba uvavanyo lwezofuzo lwe-ADPKD, ugqirha wakho uya kukuthumela kugqirha okanye kumcebisi wemfuzo.

Baza kukubuza malunga nembali yonyango yosapho lwakho ukuba ufunde ukuba ingaba uvavanyo lwemfuzo lungafaneleka na. Banokukunceda ufunde malunga nezibonelelo ezinokubakho, umngcipheko, kunye neendleko zovavanyo lofuzo.

Ukuba uthatha isigqibo sokuqhubela phambili novavanyo lwemfuza, ugqirha wokhathalelo lwempilo uya kuqokelela isampulu yegazi lakho okanye amathe. Baya kuthumela le sampuli kwilebhu kulandelelwano lwemfuzo.

Ugqirha wakho wemfuzo okanye umcebisi ngemfuza unokukunceda uqonde ukuba zithini iziphumo zovavanyo lwakho.

Iingcebiso zamalungu osapho

Ukuba umntu osapho lwakho ufunyaniswe ene-ADPKD, yazisa ugqirha wakho.

Babuze ukuba wena okanye nabaphi na abantwana eninabo kufuneka niqwalasele ukuhlolwa kwesi sifo. Banokucebisa ngovavanyo lwe-imaging njenge-ultrasound (exhaphake kakhulu), i-CT okanye iMRI, uvavanyo lwegazi, okanye uvavanyo lomchamo ukujonga iimpawu zesifo.

Ugqirha wakho angakuthumela kunye namalungu osapho lwakho kugqirha okanye kumcebisi ngemfuzo. Banokukunceda uvavanye amathuba okuba wena okanye abantwana bakho nibe nesi sifo. Banokukunceda ukuba ulinganise izibonelelo ezinokubakho, umngcipheko, kunye neendleko zovavanyo lofuzo.

Iindleko zovavanyo kunye novavanyo

Ngokweendleko zovavanyo ezinikezwe njengenxalenye yesifundo sakwangoko ngesihloko se-ADPKD, iindleko zovavanyo lofuzo zibonakala zivela kwi- $ 2,500 ukuya kwi- $ 5,000.

Thetha nomboneleli wakho wezempilo ngolwazi oluthe kratya malunga neendleko ezithile zovavanyo onokulufuna.

Ukuvavanywa kwe-aneurysm yengqondo

I-ADPKD inokubangela iingxaki ezahlukeneyo, kubandakanya i-aneurysms yengqondo.

Iifom ze-aneurysm yengqondo xa isitya segazi kwingqondo yakho sikhukhumala ngokungaqhelekanga. Ukuba i-aneurysm iyakhala okanye iqhekeza, inokubangela ukuba ubomi besoyikiso busonge igazi.

Ukuba unayo i-ADPKD, buza ugqirha wakho ukuba ufuna ukujongwa kwi-aneurysms yengqondo. Baya kukubuza malunga nembali yakho yonyango kunye nosapho yentloko, i-aneurysms, ukuphuma kwegazi lobuchopho kunye nokubetha.

Kuxhomekeka kwimbali yakho yezonyango kunye nezinye izinto ezinobungozi, ugqirha wakho unokukucebisa ukuba uhlolwe ii-aneurysms. Ukuvavanywa kungenziwa kuvavanyo lokucinga njengemagneti ye-magnetic resonance angiography (MRA) okanye i-CT scans.

Ugqirha wakho unokukunceda ufunde malunga neempawu ezinokubakho kunye neempawu ze-aneurysm yengqondo, kunye nezinye iingxaki ezinokubakho ze-ADPKD, ezinokukunceda uqaphele iingxaki xa zikhula.

Imfuza ye-ADPKD

I-ADPKD ibangelwa lguquko kwi-PKD1 okanye kwi-PKD2 yemfuza. Ezi zofuzo zinika umzimba wakho imiyalelo yokwenza iiproteni ezixhasa ukukhula kakuhle kwezintso kunye nokusebenza.

Malunga neepesenti ezili-10 zamatyala e-ADPKD abangelwa kukutshintsha okuzenzekelayo kwemfuzo kumntu ongenayo imbali yosapho yesi sifo. Kwiipesenti ezingama-90 ezisele zamatyala, abantu abane-ADPKD bafumana ikopi engaqhelekanga ye-PKD1 okanye i-PKD2 yemfuza kumzali.

Umntu ngamnye uneekopi ezimbini ze-PKD1 kunye ne-PKD2 yemfuza, ikopi nganye yohlobo ngalunye oluza ilifa kumzali ngamnye.

Umntu ufuna kuphela ukufumana ikopi enye engaqhelekanga ye-PKD1 okanye i-PKD2 yemfuza yokuphuhlisa i-ADPKD.

Oko kuthetha ukuba ukuba unomzali omnye onesifo, unethuba leepesenti ezingama-50 lokufumana njengelifa ikopi yoluhlobo luchaphazelekayo kunye nokuphuhlisa i-ADPKD. Ukuba unabazali ababini abanesi sifo, umngcipheko wokuphuhlisa imeko uyanda.

Ukuba unayo i-ADPKD kwaye iqabane lakho alinalo, abantwana bakho baya kuba nethuba leepesenti ezingama-50 lokuzuza njengelifa uhlobo oluchaphazelekayo kunye nokuphuhlisa isifo. Ukuba nobabini neqabane lakho une-ADPKD, amathuba abantwana bakho okuphuhlisa esi sifo ayanda.

Ukuba wena okanye umntwana wakho uneekopi ezimbini zemfuza echaphazelekayo, kunokubangela imeko elukhuni ngakumbi ye-ADPKD.

Xa ikopi eguqulweyo yemfuza ye-PKD2 ibangela i-ADPKD, ihlala ibangela imeko engaginyisi mathe yesi sifo kunalapho utshintsho kwi-PKD1 gene lubangela imeko.

Ukufunyanwa kwangoko kwe-ADPKD

I-ADPKD sisifo esinganyangekiyo esenza ukuba ii-cysts zenze izintso zakho.

Awunakuzibona naziphi na iimpawu de ii-cysts zibe ninzi okanye zinkulu ngokwaneleyo ukuba zibangele iintlungu, uxinzelelo, okanye ezinye iimpawu.

Ngelo xesha, esi sifo sele sisenokubangela ukonakala kwezintso okanye ezinye iingxaki ezinokubakho.

Ukuhlolwa ngononophelo kunye nokuvavanywa kunokukunceda wena nogqirha wakho ukuba usifumane kwaye usinyange esi sifo phambi kokuvela kweempawu ezinzima okanye iingxaki.

Ukuba unembali yosapho ye-ADPKD, yazisa ugqirha wakho. Banokukuthumela kugqirha okanye umcebisi ngemfuzo.

Emva kokuvavanya imbali yakho yezonyango, ugqirha wakho, ufuzo, okanye umcebisi wemfuza unokucebisa enye okanye nangaphezulu koku kulandelayo:

• ukuvavanywa kofuzo ukujonga utshintsho lwe-genetic olwenza i-ADPKD
• iimvavanyo zokucinga ukujonga ii-cysts kwizintso zakho
• uxinzelelo lwegazi ukujonga uxinzelelo lwegazi
• kuvavanywa umchamo ukukhangela iimpawu zesifo sezintso

Ukuhlolwa okusebenzayo kunokuvumela ukuxilongwa kwangoko kunye nokunyangwa kwe-ADPKD, enokukunceda ukunqanda ukusilela kwezintso okanye ezinye iingxaki.

Ugqirha wakho uya kuncoma ezinye iindidi zovavanyo oluqhubekayo lokuhlola ukuvavanya impilo yakho yonke kwaye ujonge iimpawu zokuba i-ADPKD ingaqhubeka. Umzekelo, banokukucebisa ukuba wenze uvavanyo lwegazi oluqhelekileyo lokujonga impilo yezintso zakho.

Ukuthatha

Uninzi lweziganeko ze-ADPKD zikhula kubantu abafumene ilifa lokutshintsha kwemfuza komnye wabazali babo. Kananjalo, abantu abane-ADPKD banokuthi badlulisele uhlobo lokutshintsha kubantwana babo.

Ukuba unembali yosapho ye-ADPKD, ugqirha wakho unokuncoma uvavanyo lwe-imaging, uvavanyo lwemfuza, okanye zombini ukuvavanya isifo.

Ukuba unayo i-ADPKD, ugqirha wakho usenokucebisa ngokujonga abantwana bakho ngale meko.

Ugqirha wakho unokuphinda acebise ukuhlolwa rhoqo kweengxaki.

Thetha nogqirha wakho ukuze ufunde okungakumbi malunga nokuhlola kunye nokuvavanya i-ADPKD.