Genetics, zizindikiro, ndi matenda a PKD
Matenda a Polycystic Impso, kapena PKD, ndi mawonekedwe enieni a matenda a impso. Monga momwe liwuli likusonyezera, "poly" -sticic amatanthauza kupezeka kwa majekiti angapo (zotsekedwa, zopanda kanthu, nthawi zina zimadzazidwa ndi madzi) mu impso. Impso za impso sizinali zachilendo kupeza, koma matenda a impso mu impso sikuti ndi PKD.
PKD, makamaka, ndi chimodzi mwa zifukwa zambiri zomwe munthu angakhalire ndi mphuno mu impso.
Ndiyo yeniyeni yeniyeni yeniyeni ndi njira ya PKD yomwe imapanga kukhala chinthu chapadera kwambiri. Si matenda oopsa, ndipo kachigawo kakang'ono ka odwala amatha kuona impso zawo zikulephereka, ndikusowa dialysis kapena kusintha kwa impso.
Mitundu Yina ya Mitembo
Mitundu ina ya impso (zomwe sizili zokhudzana ndi PKD) zikuphatikizapo:
- Zosavuta zowonongeka, zomwe nthawi zambiri zimakhala zowawa chifukwa cha ukalamba. Pafupifupi anthu khumi ndi awiri pa anthu 100 aliwonse a zaka zapakati pa 50 ndi 70 ndipo 22.1 peresenti ya anthu onse a zaka zoposa 70 adzakhala ndi impso imodzi.
- Zowopsya (pamene cysts ikhoza kuimira khansara mu impso, nthawi zina zimatchedwa kansalu kovuta).
- Amapezeka, monga odwala omwe ali ndi matenda a impso (CKD).
Choncho, kamodzi kansalu kamene kamapezeka mu impso, chinthu chotsatira ndicho kusiyanitsa ngati ndizopeza zotsatira zokhudzana ndi zaka, PKD, kapena china.
Genetics
PKD ndi matenda ofala kwambiri a majeremusi, omwe amachititsa anthu pafupifupi 1 mwa anthu 500, ndipo amakhalabe osowa kwambiri a impso .
Matendawa amachokera kwa mmodzi mwa makolo (90 peresenti ya milandu), kapena, kawirikawiri, amapanga "de-novo" (wotchedwa mutation mwachisawawa).
Kumvetsetsa chibadwa cha PKD n'kofunika kuti mumvetsetse matendawa ndi zizindikiro. Mchitidwe wopatsidwa cholowa kuchokera kwa kholo kupita kwa mwana umasiyanitsa pakati pa mitundu iwiri ya PKD.
Positanti Yaikulu Yamtundu wa PKD (AD-PKD) ndiyo mawonekedwe omwe anthu amabadwa nawo ndipo 90 peresenti ya milandu ya PKD ndi mtundu uwu. Zizindikiro nthawi zambiri zimachitika m'zaka zapakati pa makumi atatu ndi makumi atatu, ngakhale kuti zimayambira muubwana mwadzidzidzi.
Matenda osadziwika angakhale otchedwa PKD1, PKD2, kapena majini a PKD3. Mmodzi mwa majeremusi awa ali ndi kusintha kwake ndi kusintha kwa mtundu wotani kumene kumakhudza kwambiri zotsatira za PKD. Mwachitsanzo, jini la PKD1, lomwe lili pa chromosome 16, ndilo tsamba lofala kwambiri lamasinthidwe lomwe likuwonetsedwa m'ma 85 peresenti ya ADPKD. Zowonongeka mu jini (monga momwe zilili ndi kusintha kwina) zimabweretsa kuwonjezeka kwa maselo a epithelial mu impso komanso mapangidwe a khungu.
PVD (AR-PKD) yowonongeka kwambiri imakhala yovuta kwambiri ndipo ingayambe kumayambiriro, ngakhale mwanayo akukula panthawi yomwe ali ndi mimba. Chimodzi mwa chifukwa chake mtundu uwu wa PKD siwodziwika ndi chifukwa odwala omwe sakhudzidwa nthawi zambiri sakhala moyo wokwanira kuti abereke ndi kupatsira kusintha kwa ana awo.
Apanso, kufotokozera mwachidule, 90 peresenti ya milandu ya PKD imatengedwa, ndipo ya mitundu yobadwa nayo, 90 peresenti ndi yoyendetsa autosomal. Choncho, odwala okhala ndi PKD nthawi zambiri amakhala ndi PKD (AD-PKD) yodalirika kwambiri.
Malo Okhwima ndi Kusintha
Tsamba la kusintha kwa thupili lidzakhudza matendawa.
Ndi kusintha kwa PKD2, mphutsi zimakula patapita nthawi, ndipo kulephera kwa chiwindi sikuchitika mpaka kumapeto kwa zaka za m'ma 70s. Kusiyanitsa izi ndi kusintha kwa majeremusi a PKD1, kumene odwala angapangitse impso kulephera m'ma 50s.
Odwala omwe ali ndi kusintha kwa PKD2 nthawi zambiri sadziwa ngakhale mbiri ya banja la PKD. Pachifukwa ichi, nthawi zonse zimatheka kuti kholo loyendetsa chisamalirocho lisanafe, matendawa asanakhalepo oopsa kwambiri kuti adziwe zizindikiro kapena amafunika dialyse.
Zizindikiro
Zizindikiro zosiyanasiyana zikhoza kuwonedwa mu PKD. Zitsanzo zodziwika ndi izi:
- Kupweteka kwa phala chifukwa cha impso zofutukula
- Matenda a m'magulu a urinary
- Matenda a impso (chifukwa cha mkodzo wa pang'onopang'ono wotuluka mumphepete mwa mphutsi)
- Nkhumba zikhoza kupezeka mu ziwalo zina monga chiwindi ndi zikondamoyo
- Odwala amakhala ndi mphamvu yambiri ya magazi omwe amapatsidwa impso kuti azitsatira malamulo a magazi
Kudziwa
Ngakhale kusintha kwa PKD kumakhalapo pakabereka, impso za impso zingakhale zosaoneka panthawiyo. Mitsempha imeneyi imakula kukhala timadzi timadzi timene timayamika kwambiri pazaka makumi awiri zoyambirira, panthawi yomwe angayambitse zizindikiro kapena zizindikiro pamene munthu akufika zaka 30. Komabe, kupitirira kwa matenda a impso mpaka kumapeto kungatenge zaka makumi angapo kuyambira pamenepo.
Anthu ambiri omwe amadziwa za mbiri ya banja la PKD ali ndi chiwerengero chochepa chopezeka kuti ali ndi PKD kuyambira odwala onse awiri ndipo madokotala akudziwa bwino kuti ali ndi kachilombo ka HIV. Nthawi zina mbiri ya banja silingadziŵike kapena ikuoneka kuti "yachibadwa," matendawa ndi ovuta kwambiri ndipo amafunika kuyesedwa ndi a nephrologist. Pachifukwa ichi, kholo lokhudzidwa lidafa kale matendawa asanakhale ndi mwayi wopita ku mapeto a matenda a impso. Pomalizira, ngati ndi "mchitidwe wosinthika," pangakhale palibe PKD yomwe ilipo mwa kholo lililonse.
Kufufuza koyamba kwa PKD kumapangidwa pogwiritsa ntchito zojambula zojambula monga ultrasound kapena CT scan. Komabe, chifukwa chakuti wina ali ndi makoswe ambiri mu impso sizikutanthauza kuti ali ndi PKD. Zingakhale zongokhala zosavuta zambiri, kapena zina zotero monga matenda a medullary cystic (osati ofanana ndi PKD).
Ngati matendawa akukayikira, kuyezetsa mafupa kungatsimikizire kapena kukana kusanthula. Kuyezetsa magazi kumakhala kotsika mtengo ngakhale kuti kumagwiritsidwa ntchito kwambiri ngati matendawa ndi ofanana.
Matenda
Kodi anthu omwe ali ndi PKD amatenga nthawi yaitali bwanji kuti akule bwino? Funso limeneli ndilo funso limodzi limene anthu angoyambe kuwapeza ndi PKD adzakhala nalo. Pa zochitika zovuta kwambiri pamene odwala amapita kukwaniritsa kulephera kwa nthendayi, kufunikira dialysis kapena kuikidwa m'magulu, ntchito ya impso (GFR) ikhoza kuchepa pafupi ndi mfundo zisanu pachaka. Choncho, munthu yemwe amayamba ndi GFR wa 50 akhoza kufika ku GFR ya zisanu m'zaka pafupifupi zisanu ndi zisanu ndi zinayi, nthawi yomweyo dialysis kapena kuikapo kwake kungafunike.
Dziwani kuti sikuti wodwala aliyense yemwe ali ndi PKD sadzalepheretsa kuthetsa vuto la impso. Chimene chikafunikanso kugogomezedwa ndikuti si onse omwe ali ndi PKD omwe adzafika mpaka pamene akufunikira dialyse. Odwala omwe ali ndi PKD2 gene mutation mwachionekere amakhala ndi mwayi wabwino wopewa kulephera kwathunthu kwa chiwerewere. Ichi ndi chifukwa chake, monga lonse, osachepera theka la ma CD a PKD adzapezeka m'moyo wa wodwala, chifukwa matendawa angakhale chete.
> Zotsatira:
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> KM Thong ACM Ong. Mbiri yachilengedwe ya autosomal yaikulu polycystic matenda a impso: zaka 30 zochitika kuchokera ku malo amodzi. QJM: International Journal of Medicine , Volume 106, Issue 7, 1 July 2013, Masamba 639-646
> Torres VE, Harris PC, Pirson Y. Autosomal yaikulu ya polycystic matenda a impso. Lancet 2007 Apr 14; 369 (9569): 1287-301
> Davies F, Coles GA, Harper PS. Matenda a Polycystic Matenda a Impso Awerengedwanso: Phunziro la Anthu. QJM: International Journal of Medicine , Voliyumu 79, Issue 3, 1 June 1991, masamba 477-485
> United States Renal Data System. 2016 USRDS report data annu: Epidemiology ya matenda a impso ku United States. National Institutes of Health, National Institute of Diabetes ndi Matenda a Digestive ndi Impso, Bethesda, MD, 2016.