Autosomal yakanyanya tubulointerstitial itsvo chirwere

Autosomal inokurira tubulointerstitial itsvo chirwere (ADTKD) iboka renzvimbo dzakagarwa nhaka dzinokanganisa tubules yeitsvo, zvichikonzera itsvo zvishoma nezvishoma kurasikirwa nekugona kwavo kushanda.

ADTKD inokonzerwa nekuchinja mune mamwe majeni. Aya matambudziko egene anopfuudzwa kuburikidza nemhuri (dzakagara nhaka) mune ye autosomal yakakurisa pateni. Izvi zvinoreva kuti geni risina kujairika rinodiwa kubva kumubereki mumwe chete kuti ugare nhaka chirwere. Kazhinji, nhengo zhinji dzemhuri dzine chirwere ichi.

Nemhando dzose dzeADTKD, chirwere ichi chichienderera mberi, itsvo tubules dzinokuvara. Aya ndiwo masisitimu ari muitsvo ayo anotendera kuti mvura zhinji iri muropa isvinwe idzorerwe muropa.

Magene avo asina kujairika anokonzera akasiyana mafomu eADTKD ndeaya:

• UMOD geni - inokonzeresa ADTKD-UMOD, kana uromodulin hosha yeitsvo
• MUC1 geni - inokonzeresa ADTKD-MUC1, kana mucin-1 chirwere cheitsvo
• REN geni - inokonzeresa ADTKD-REN, kana yemhuri yevechidiki hyperuricemic nephropathy mhando 2 (FJHN2)
• HNF1B geni - inokonzeresa ADTKD-HNF1B, kana kukura-kutanga chirwere cheshuga mellitus chechidiki mhando 5 (MODY5)

Kana iyo chikonzero cheADTKD chisingazivikanwe kana kuongororwa kwemajini kusati kwaitwa, inonzi ADTKD-NOS.

Pakutanga kwechirwere, zvinoenderana nemhando yeADTKD, zviratidzo zvinogona kusanganisira:

• Kuwedzeredza weti (polyuria)
• Gout
• Kuchiva kwemunyu
• Weti husiku (nocturia)
• Kushaya simba

Sezvo chirwere ichi chichiwedzera, zviratidzo zveitsvo kukundikana zvinogona kukura, izvo zvinosanganisira:

• Kupwanya kuri nyore kana kubuda ropa
• Kuneta, kushaya simba
• Kakawanda hiccups
• Kutemwa nemusoro
• Kuwedzera kweganda reganda (ganda rinogona kunge rakaita yero kana shava)
• Itching
• Malaise (kurwara zvakanyanya)
• Tsvina kubvunda kana kurwadza
• Nausea
• Ganda rakachenuruka
• Yakaderedzwa manzwiro mumaoko, tsoka, kana dzimwe nzvimbo
• Kusvipa ropa kana ropa muchigaro
• Kuonda
• Kufenda
• Kuvhiringidzika, kudzikira kwekusvinura, koma

Anopa hutano anozokuongorora obvunza nezve zviratidzo zvako. Iwe ungango bvunzwa kana dzimwe nhengo dzemhuri dziine ADTKD kana chirwere cheitsvo.

Miedzo inogona kuitwa inosanganisira:

• 24-awa weti vhoriyamu uye electrolyte
• Ropa urea nitrogen (BUN)
• Yakazara kuverenga ropa (CBC)
• Creatinine bvunzo yeropa
• Kubvumwa kweCreatinine - ropa uye weti
• Uric acid yeropa bvunzo
• Urini yakatarwa giravhiti (ichave yakaderera)

Iyi bvunzo inotevera inogona kubatsira kuongorora iyi mamiriro:

• Abdominal CT scan
• Abdominal ultrasound
• Itsvo biopsy
• Itsvo Ultrasound

Iko hakuna mushonga weADTKD. Pakutanga, kurapwa kunotarisa kudzora zviratidzo, kudzikisira matambudziko, uye kudzikira kufambira mberi kwechirwere. Nekuti mvura yakawanda uye munyu zvarasika, iwe uchafanirwa kuteedzera kuraira kwekunwa mvura yakawanda uye kutora munyu zvinowedzeredza kudzivirira kupera mvura.

Sezvo chirwere ichi chiri kufambira mberi, kukundikana kweitsvo kunoitika. Kurapa kunogona kusanganisira kutora mishonga uye shanduko yekudya, kudzikisira chikafu chine phosphorus uye potasium. Iwe ungangoda dialysis uye itsvo kuisazve.

Zera iro vanhu vane ADTKD vanosvika kumagumo chirwere cheitsvo chakasiyana, zvinoenderana nechimiro chechirwere. Inogona kunge iri diki senge mune vechidiki kana mukukura kwevakuru. Kurapwa kwehupenyu hwese kunogona kudzora zviratidzo zvechirwere chetsvo chisingaperi.

ADTKD inogona kutungamira kumatambudziko ehutano anotevera:

• Anemia
• Bone kupera simba uye kutsemuka
• Cardiac tamponade
• Shanduko muglucose metabolism
• Kuunganidzwa kwemoyo kukundikana
• End-danho chirwere cheitsvo
• Utumbo kubuda ropa, maronda
• Hemorrhage (kunyanyisa kubuda ropa)
• Kuwedzera kweropa
• Hyponatremia (yakaderera ropa sosi chikamu)
• Hyperkalemia (yakawandisa potasium muropa), kunyanya nechirwere cheitsvo chekupedzisira
• Hypokalemia (potasiamu shoma muropa)
• Kushaya mbereko
• Zvinetso zvekuenda kumwedzi
• Kusabvisa pamuviri
• Pericarditis
• Peripheral neuropathy
• Platelet kusagadzikana nekupwanya kuri nyore
• Ruvara rweganda rinochinja

Sheedza musangano pamwe nemupi wako kana iwe uine chero zviratidzo zvekunetseka kana itsvo matambudziko.

Medullary cystic chirwere cheitsvo chirwere chakagara nhaka. Zvinogona kusadzivirika.

ADTKD; Medullary cystic chirwere cheitsvo; Chirwere cheitsvo chakabatana; Inozivikanwa yevechidiki hyperuricemic nephropathy; Uromodulin inosangana nechirwere cheitsvo

• Itsvo anatomi
• Itsvo cyst ine nduru - CT scan
• Itsvo - kuyerera kweropa uye weti

Bleyer AJ, Kidd K, Živná M, Kmoch S. Autosomal chakanyanya chirwere chetulointerstitial cheitsvo. Adv Chisingaperi Kidney Dis. 2017; 24 (2): 86-93. PMID: 28284384 www.ncbi.nlm.nih.gov/pubmed/28284384.

Eckardt KU, Alper SL, Antignac C, et al. Autosomal inotyisa tubulointerstitial chirwere cheitsvo: kuongororwa, kupatsanurwa, uye manejimendi - KDIGO chibvumirano chekubvumirana. Itsvo Int. 2015; 88 (4): 676-683. PMID: 25738250 www.ncbi.nlm.nih.gov/pubmed/25738250.

Guay-Woodford LM. Zvimwe zvirwere zveitsvo. Muna: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. Yakakwana Kliniki Nephrology. 6th ed. Philadelphia, PA: Elsevier; 2019: chitsuwa 45.