Autosomal rinjaye tubulointerstitial koda cuta

Autosomal dominant tubulointerstitial koda cuta (ADTKD) wani rukuni ne na yanayin gado wanda ya shafi kwayar kodan, yana haifar da kodar sannu a hankali rasa ikon aiki.

ADTKD ya samo asali ne daga maye gurbi a cikin wasu kwayoyin halittu. Wadannan matsaloli na kwayar halitta ana yada su ne ta hanyar dangi (wadanda aka gada) a cikin wata babbar dabi'a ta gargajiya. Wannan yana nufin ana bukatar kwayar halittar da ba ta dace ba daga mahaifi ɗaya don a gaji cutar. Sau da yawa, yawancin 'yan uwa suna da cutar.

Tare da kowane nau'i na ADTKD, yayin da cutar ta ci gaba, bututun kodar sun lalace. Waɗannan su ne abubuwan da ke cikin kodan da ke ba da damar yawancin ruwa a cikin jini a tace su koma cikin jini.

Kwayoyin halittun su marasa kyau wadanda suke haifar da nau'ikan ADTKD sune:

• UMOD kwayar halitta - yana haifar da ADTKD-UMOD, ko cutar koda ta uromodulin
• MUC1 kwayar halitta - yana haifar da ADTKD-MUC1, ko kuma cutar mucin-1 mai cutar koda
• SAURARA kwayar halitta - yana haifar da ADTKD-SAURARA, ko nau'ikan cutar nefropathy na yara na yara hyperuricemic 2 (FJHN2)
• HNF1B kwayar halitta - yana haifar da ADTKD-HNF1B, ko balaga-farkon ciwon sukari na ƙananan nau'in nau'in 5 (MODY5)

Lokacin da ba'a san dalilin ADTKD ba ko kuma ba'a yi gwajin kwayar halitta ba, ana kiran shi ADTKD-NOS.

Farkon cutar, ya danganta da nau'in ADTKD, alamomin na iya haɗawa da:

• Yawan fitsari (polyuria)
• Gout
• Son gishiri
• Fitsari da dare (nocturia)
• Rashin ƙarfi

Yayinda cutar ta kara tsananta, alamun gazawar koda na iya bunkasa, wadanda suka hada da:

• Easyarami mai sauƙi ko zub da jini
• Gajiya, rauni
• Yawan hutun lokaci
• Ciwon kai
• Colorara launin fata (fata na iya bayyana rawaya ko launin ruwan kasa)
• Itching
• Malaise (rashin lafiya na gaba ɗaya)
• Arƙwarar tsoka ko raɗaɗi
• Ciwan
• Fata mai haske
• Rage jin dadi a hannu, ƙafa, ko wasu yankuna
• Jinin amai ko jini a cikin marainai
• Rage nauyi
• Kamawa
• Rikicewa, rage faɗakarwa, suma

Mai ba da sabis na kiwon lafiya zai bincika ku kuma ya yi tambaya game da alamunku. Wataƙila za a tambaye ku idan wasu 'yan uwa suna da ADTKD ko cutar koda.

Gwajin da za a iya yi sun hada da:

• Yawan fitsari na awa 24 da kuma wutan lantarki
• Nitrogen na jini (BUN)
• Kammala ƙididdigar jini (CBC)
• Gwajin jini na Creatinine
• Bayanin halitta - jini da fitsari
• Gwajin jini na Uric acid
• Nauyin fitsari (zai zama ƙasa)

Gwaje-gwaje masu zuwa na iya taimakawa wajen gano wannan yanayin:

• CT scan na ciki
• Ciki duban dan tayi
• Koda biopsy
• Koda duban dan tayi

ADTKD babu magani. Da farko, magani yana mai da hankali kan sarrafa alamomin, rage rikitarwa, da rage saurin ci gaban cutar. Saboda ruwa da gishiri da yawa sun yi asara, kuna buƙatar bin umarnin kan shan ruwa mai yawa da shan abubuwan haɗin gishiri don kauce wa rashin ruwa.

Yayinda cutar ta ci gaba, matsalar gazawar koda. Yin jiyya na iya haɗawa da shan magunguna da canjin abinci, iyakance abinci mai ɗauke da sinadarin phosphorus da potassium. Kuna iya buƙatar dialysis da dashen koda.

Shekarun da masu cutar ADTKD ke kaiwa ga cutar koda a matakin ƙarshe ya bambanta, ya danganta da nau'in cutar. Zai iya zama saurayi kamar a cikin samari ko a cikin tsufa. Kulawa na tsawon rai na iya sarrafa alamun cututtukan koda na kullum.

ADTKD na iya haifar da matsalolin kiwon lafiya masu zuwa:

• Anemia
• Kashe rauni da karaya
• Diacarfafa zuciya
• Canje-canje a cikin metabolism na metabolism
• Ciwon zuciya mai narkewa
• Kidneyarshen-koda cuta
• Zuban cikin hanji, ulce
• Zubar da jini (zub da jini mai yawa)
• Hawan jini
• Hyponatremia (matakin ƙarancin sinadarin sodium)
• Hyperkalemia (potassium mai yawa a cikin jini), musamman tare da ƙarshen cutar koda
• Hypokalemia (karancin potassium a cikin jini)
• Rashin haihuwa
• Matsalar haila
• Zubewar ciki
• Ciwon mara
• Neuropathy na gefe
• Rashin aikin platelet tare da saurin rauni
• Canjin launin fata

Kira don alƙawari tare da mai ba da sabis idan kuna da alamun alamun urinary ko matsalolin koda.

Cutar koda ta medullary cuta ce ta gado. Maiyuwa bazai yuwu ba.

ADTKD; Medullary cututtukan koda; Renin hade da cutar koda; Iyalin yara masu cutar hyperphicemic nephropathy; Uromodulin hade da cutar koda

• Ciwon jikin koda
• Cwayar koda tare da duwatsu masu duwatsu - CT scan
• Koda - jini da fitsari suna gudana

Bleyer AJ, Kidd K, Živná M, Kmoch S. Autosomal rinjaye tubulointerstitial koda cuta. Adv na Koda Koda. 2017; 24 (2): 86-93. PMID: 28284384 www.ncbi.nlm.nih.gov/pubmed/28284384.

Eckardt KU, Alper SL, Antignac C, et al. Autosomal rinjaye tubulointerstitial koda cuta: ganewar asali, rarrabuwa, da kuma gudanarwa - a KDIGO yarjejeniya yarjejeniya. Koda Int. 2015; 88 (4): 676-683. PMID: 25738250 www.ncbi.nlm.nih.gov/pubmed/25738250.

Guay-Woodford LM. Sauran cututtukan koda. A cikin: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. M Clinical Nephrology. Na 6 ed. Philadelphia, PA: Elsevier; 2019: babi na 45.