I-Genetics, iimpawu kunye nokuxilongwa kwe-PKD
I-Polycystic Kidney Disease, okanye i-PKD, uhlobo oluthile lwezifo zesifo sentso. Njengoko eli gama libonisa, "i-poly" -stics ibhekisela ekubeni khona kwama-cysts amaninzi (avaliweyo, ama-sacs angenanto, ngamanye amaxesha azaliswe ngamanzi) ezintsheni. Ii-cysts zeentso ngokuqhelekileyo azikho ukufumana okungaqhelekanga, kodwa ukuxilongwa kwe-cysts kwiimpso akuthethi i-PKD.
I-PKD, eqinisweni, yinto enye yezizathu ezininzi zokuba umntu angahlakulela ama-cysts ezintsheni.
Yilifa elithile lokuzalwa kunye nekhosi ye-PKD eyenza ibe yinto ebalulekileyo. Akusiyo isifo esiyingozi, kwaye inxalenye enkulu yezigulane ziyakwazi ukubona izintso zabo ziyeke ukungafezeki, zifuna i- dialysis okanye i-kidney transplant.
Ezinye iintlobo zeeCyst
Olunye uhlobo lwee-cysts (ezinjalo ezingekho kwi-cysts ezihlobene ne-PKD) ziquka:
- I-cysts elula, edla ngokubaluleka kwenkqubo yokuguga. Phantse iipesenti ezilishumi elinambini zabantu abaneminyaka engama-50 ukuya kuma-70 kunye neepesenti ezingama-22.1 zabantu abaneminyaka engaphezu kwe-70 baya kuba ne-cyst enye kwiimpso.
- I-Malignant (xa i-cysts ibingabonakalisa umdlavuza ezintsheni, ngamanye amaxesha kuthiwa yi-cysts eziyinkimbinkimbi).
- Kufunyenwe, njengalezi zigulane ezinezifo zentsholongwane ezingapheliyo (CKD).
Ngenxa yoko, xa ama-cysts ephawulwe kwiintso, isinyathelo esilandelayo kukukwahlula ukuba ngaba i-PKD, okanye i-PKD, okanye enye into enxulumene nobudala.
Genetics
I-PKD isifo esiyintlobo yesifo somzimba, esichaphazela phantse abantu aba-1 kwabangama-500, kwaye isoloko ibangele imbangela yokuhluleka kwezintso .
Esi sifo sivame ukufumana ilifa kumnye wabazali (ama-90 ekhulwini amatyala), okanye, ngokungaqhelekanga, ikhula "de-novo" (ebizwa ngokuba yinguqulelo).
Ukuqonda i-genetics ye-PKD kubalulekile ekuqondeni iimpawu zesifo kunye nekhosi. Imo yelifa ukusuka kumzali ukuya kumntwana iyahlula phakathi kweentlobo ezimbini ze-PKD.
I-PKD ene-Autosomal ephezulu (i-AD-PKD) yifomu efa nefa eliqhelekileyo kunye neepesenti ezingama-90 zee-PKD ziimeko zolu hlobo. Iimpawu zivame ukuphucula kamva ebomini ukuya kuma-30 ukuya ku-40, nangona intshumayelo ebuntwaneni engaziwayo.
Izaziso ezingavamile zingabi yi-PKD1, PKD2, okanye i-PKD3. Yiyiphi yalezi zifo zengqungquthela ezinokuguqulwa kwamanzi kunye nokuba luhlobo luni lomngcipheko olunokuthi lube nefuthe elikhulu kwisiphumo esilindelekileyo sePKD. Ngokomzekelo, igalelo le-PKD1, elitholakala kwi-chromosome 16, isayithi eguquguqukayo ebonakalayo kuma-85 ekhulwini amatyala e-ADPKD. Iimpazamo kwi-gene (njengoko kunjalo nangenye iinguqu kunye nezinye) zikhokelela ekunyuseni ukwanda kweeseli ze-epithelial kwiintso kunye nokuqulunqa kwe-cyst.
I-Autosomal Recssive PKD (AR-PKD) ihamba kakhulu kwaye ingaqalisa ekuqaleni, nangona umntwana ekhula ngexesha lokukhulelwa. Esinye isizathu sokuba lolu hlobo lwe-PKD alufanekiyo kuba izigulane ezichaphazelekayo azivumi ukuhlala ixesha elide ukwenzela ukuba zizalise kwaye zidlulisele ukuguqulwa kwezingane zabo.
Kwakhona, shwa nkathela, iipesenti ezingama-90 zee-PKD zizuzwe njengefa, kunye neentlobo zefa, iipesenti ezingama-90 ziyi-autosomal. Ngenxa yoko, izigulane ezinePKD ziza kubakho i-PKD ephezulu (AD-PKD).
Indawo yobunzima kunye noTshintsho
Indawo yokuguqulwa komzimba iya kuba nefuthe kwikhosi yezifo.
Ngokuguquka kwe-PKD2, i-cysts ikhula kakhulu emva koko, kwaye ukuhluleka komntu okwenziwe ngumntu okwenzekayo kungenzeki kude kube sekupheleni kwee-70s. Qhathanisa oku kunye noguquko lwemizimba ye-PKD1, apho izigulana zingahlakulela ukungaphumeleli kwezintso phakathi kwama-50s.
Izigulane ezine-PKD2 zitshintshile ziza kukwazi ukuba nayiphi na imbali yentsapho ye-PKD. Kule meko, kuhlala kunokwenzeka ukuba ukhokho ophethe ukuguqulwa kwafa ngaphambi kokuba isifo sibe nzima ngokwaneleyo ukudala iimpawu okanye ukufuna i-dialysis.
Iimpawu
Iimpawu ezahlukeneyo zingabonwa kwi-PKD. Imizekelo eqhelekileyo ibandakanya:
- Ubuhlungu bePlank ngenxa yeentso zokukhulisa
- Izifo zogqirha
- Amathambo eentso (ngenxa yokuhamba komchamo ocothayo kuma-cysts)
- Iingqimba zingabakho kwezinye izitho ezifana nesibindi kunye ne-pancreas
- Izigulane zivame ukufumana uxinzelelo lwegazi oluneenkcukacha zengqondo kwi-blood pressure regulation
Ukuxilongwa
Nangona iinguqu zePKD zihlala zikhona xa zizalwa, iinjongo zezintso zingenakubonakala ngelo xesha. Ezi zikhukhula zikhula zibe zizikhwama ezigciniweyo ezigqithisiweyo kwiinyanga eziqala zokuqala, apho ziqala ukudala iimpawu okanye iimpawu ngexesha umntu efikelela kwiminyaka engama-30. Nangona kunjalo, ukuqhubeka kwesifo seengso ukuya kwinqanaba lokungaphumeleli kuthatha amashumi eminyaka ukususela ngelo xesha.
Uninzi lwabantu abayaziyo imbali yentsapho ye-PKD banomlinganiselo ophantsi wokufunyaniswa ne-PKD kuba zombini izigulane kunye noogqirha bazi kakuhle uhlobo olusondeleyo lwesifo sesi sifo. Kwiimeko apho imbali yentsapho ingenakwaziwa okanye ibonakala ngathi "iyinto evamile," ukuxilongwa kuyinzima kwaye ifuna ukuvavanywa ngu-nephrologist. Kule meko, umzali ochaphazelekayo unokufa ngaphambi kokuba eso sifo sibe nethuba lokuqhubela phambili kwisifo sesifo sesifo. Ekugqibeleni, ukuba kuyimeko 'yokutshintshana ngokuzenzekelayo,' akubekho nanye iPKD ekhoyo kumzali.
Ukuxilongwa kokuqala kwe-PKD kwenziwa ngokusebenzisa izifundo zengqondo ezifana ne-ultrasound okanye i-CT. Nangona kunjalo, ngenxa yokuba umntu unama-cysts amaninzi kwizintso akuthethi ukuba bathetha i-PKD. Kungaba yimeko ye-cysts enye-ezininzi ezininzi, okanye ezinye izinto ezinjengezilwanyana zesifo seengqondo (ingekho enye i-PKD).
Xa ukuxilongwa kukungathandabuzeki, ukuvavanywa kofuzo kunokuqinisekisa okanye ukuphikisa ukuxilongwa. Ukuvavanya i-Genetic kudla ukuba kubi kakhulu nangona kunjalo kusetyenziswe kakhulu xa ukuxilongwa kugxininisekile.
Izifo zoLwazi
Kuza kube nini abo abanePKD bathatha ukuphulwa kwezintso? Oku mhlawumbi umbuzo omnye umbuzo abantu abasanda kufumanisa ukuba babe nePKD. Kwiimeko ezinzima kakhulu apho izigulane zihamba phambili ukuzalisa ukungaphumeleli kwindlala, ezifuna i-dialysis okanye ukufakelwa kwegazi, umsebenzi wezintso (GFR) unokuhlahla malunga namaqela angama-5 ngonyaka. Ngenxa yoko, umntu oqala nge-GFR ye-50 unokufikelela kwi-GFR yeyesihlanu kwiminyaka engama-9, apho i-dialysis okanye ukufakelwa kwe-intanethi kungafuneka.
Qaphela ukuba akusiyo yonke isigulane enePKD eya kunyanzela ukunciphisa ukubola kweentso. Oko kusadingeka kugxininiswe kukuba bonke abantu abanePKD baya kuqhubela phambili apho bafuna i-dialysis. Izigulane nge-PKD2 ukuguqulwa kwemfuyo ngokucacileyo zimelela ithuba elingcono lokuphepha ukuhluleka komzimba. Yingakho, ngokubanzi, ngaphantsi kwesigamu see-PKD iimeko ziya kufunyaniswa ngexesha lokuphila kwesigulane, njengoko eso sifo singasetekisi eklinikhi.
> Imithombo:
> Umkhonto D1, Gibson RN, uDonlan J, et al. Uphando lwe-ultrasound ye-renal provalence: NgoDisemba ka-1993; 22 (6): 803-7
> KM Thong ACM Ong. Imbali yendalo ye-autosomal isifo esiphambili se-polycystic isifo: amava engama-30 avela kwiziko elilodwa. I-QJM: I-International Journal of Medicine , uMqulu 106, iNdaba 7, 1 Julayi 2013, amakhasi 639-646
> I-Torres VE, i-Harris PC, i-Pirson Y. I-Autosomal i-polycystic isifo sesifo. Lancet 2007 uMatshi 14; 369 (9569): 1287-301
> Davies F, Coles GA, Harper PS. I-Polycystic Iintsholongwane Zeengqondo Zihlolisiswe kwakhona: Isifundo esisekelwe kubantu. I-QJM: I-International Journal of Medicine , uMqulu 79, iNdaba 3, 1 Juni 1991, iphepha 477-485
> United States I-Renal Data System. Ngonyaka we-2016 i-USRDS ingxelo yedatha: I-epidemiology yezifo zengqondo e-United States. Iziko zeSizwe zezeMpilo, iZiko leSizwe leSifo sikashukela kunye neeNtsholongwane zeNtsholongwane kunye neNtsholongwane, iBetdada, MD, 2016.