Isifo sezinso se-Autosomal esivelele

Isifo sezinso i-Autosomal dominant tubulointerstitial (ADTKD) siyiqembu lezimo ezizuzwe njengefa ezithinta amashubhu ezinso, okwenza izinso zilahlekelwe amandla azo okusebenza kancane kancane.

I-ADTKD ibangelwa ukuguqulwa kwezakhi zofuzo ezithile. Lezi zinkinga zofuzo zidluliselwa emindenini (ezuzwe njengefa) ngephethini ephezulu ye-autosomal. Lokhu kusho ukuthi isakhi sofuzo esingajwayelekile sidingeka kumzali oyedwa kuphela ukuze kuzuze lesi sifo njengefa. Imvamisa, amalungu amaningi omndeni analesi sifo.

Ngazo zonke izinhlobo ze-ADTKD, njengoba isifo siqhubeka, ama-tubules ezinso ayalimala. Lezi yizakhiwo ezinso ezivumela ukuthi amanzi amaningi egazini ahlungwe bese ebuyiselwa egazini.

Izakhi zofuzo zabo ezingajwayelekile ezidala izinhlobo ezahlukahlukene ze-ADTKD yilezi:

• UMOD ufuzo - lubangela i-ADTKD-UMOD, noma isifo sezinso se-uromodulin
• I-MUC1 ufuzo - lubangela i-ADTKD-I-MUC1, noma isifo sezinso se-mucin-1
• REN ufuzo - lubangela i-ADTKD-REN, noma uhlobo lomndeni lwentsha ye-nephropathy 2 (FJHN2)
• HNF1B ufuzo - lubangela i-ADTKD-HNF1B, noma ukukhula kwesifo sikashukela sohlobo olusha lwesi-5 (MODY5)

Lapho imbangela ye-ADTKD ingaziwa noma ukuhlolwa kofuzo kungakenziwa, ibizwa nge-ADTKD-NOS.

Ekuqaleni kwesifo, kuya ngohlobo lwe-ADTKD, izimpawu zingafaka:

• Ukuchama ngokweqile (i-polyuria)
• Gout
• Izifiso zikasawoti
• Ukuchama ebusuku (nocturia)
• Ubuthakathaka

Njengoba lesi sifo siba sibi, izimpawu zokuhluleka kwezinso zingakhula, ezibandakanya:

• Ukulinyazwa okulula noma ukopha
• Ukukhathala, ubuthakathaka
• Ama-hiccups avamile
• Ubuhlungu bekhanda
• Umbala wesikhumba owandisiwe (isikhumba singabonakala siphuzi noma nsundu)
• Ukulunywa
• UMalaise (ukugula okujwayelekile)
• Ukudikiza kwemisipha noma amajaqamba
• Isicanucanu
• Isikhumba esiphaphathekile
• Ukuncipha komuzwa ezandleni, ezinyaweni, noma kwezinye izindawo
• Ukuhlanza igazi noma igazi esitokisini
• Ukwehla kwesisindo
• Ukuquleka
• Ukudideka, ukwehla kokuqwashisa, ikhoma

Umhlinzeki wezokunakekelwa kwempilo uzokuhlola abuze ngezimpawu zakho. Cishe uzobuzwa ukuthi amanye amalungu omndeni ane-ADTKD noma isifo sezinso.

Ukuhlolwa okungenziwa kufaka phakathi:

• Ivolumu yamahora angu-24 yomchamo nama-electrolyte
• Igazi urea nitrogen (BUN)
• Qedela ukubalwa kwegazi (CBC)
• Ukuhlolwa kwegazi le-Creatinine
• Ukususwa kwe-Creatinine - igazi nomchamo
• Uric acid ukuhlolwa kwegazi
• Amandla adonsela phansi e-urine (azoba phansi)

Ukuhlolwa okulandelayo kungasiza ukuxilonga lesi simo:

• Iskena se-CT esiswini
• I-ultrasound yesisu
• Ukucubungula izinso
• Izinso ultrasound

Alikho ikhambi le-ADTKD. Ekuqaleni, ukwelashwa kugxila ekulawuleni izimpawu, ekwehliseni izinkinga, nasekunciphiseni ukuqhubeka kwesifo. Ngenxa yokuthi kulahleke amanzi nosawoti omningi, kuzodingeka ulandele imiyalo ngokuphuza uketshezi oluningi nokuthatha izithasiselo zikasawoti ukugwema ukoma.

Njengoba lesi sifo siqhubeka, ukuhluleka kwezinso kuyakhula. Ukwelashwa kungabandakanya ukuthatha imithi nokushintsha kokudla, ukunciphisa ukudla okuqukethe i-phosphorus ne-potassium. Ungadinga i-dialysis kanye nokufakelwa kwezinso.

Iminyaka abantu abane-ADTKD abafinyelela ngayo ezingeni lesifo sezinso ekugcineni iyahlukahluka, kuya ngohlobo lwesifo. Kungaba mncane njengasebusheni noma ebudaleni obudala. Ukwelashwa impilo yonke kungalawula izimpawu zesifo esingapheliyo sezinso.

I-ADTKD ingaholela ezinkingeni zezempilo ezilandelayo:

• Ukushoda kwegazi
• Ukuthanjiswa kwethambo nokuqhekeka
• I-tamponade yenhliziyo
• Izinguquko ku-glucose metabolism
• Ukwehluleka kwenhliziyo yokubopha
• Isifo sezinso sokugcina
• Ukopha emathunjini, izilonda
• I-hemorrhage (ukuphuma ngokweqile)
• Umfutho wegazi ophezulu
• I-Hyponatremia (izinga eliphansi le-sodium)
• I-Hyperkalemia (i-potassium eningi egazini), ikakhulukazi ngezifo zezinso zokugcina
• I-Hypokalemia (i-potassium encane kakhulu egazini)
• Ukungabi nenzalo
• Izinkinga zokuya esikhathini
• Ukuphuphuma kwesisu
• I-Pericarditis
• I-peripheral neuropathy
• Ukungasebenzi kahle kweplatelet ngokulinyazwa okulula
• Izinguquko zombala wesikhumba

Shayela i-aphoyintimenti nomhlinzeki wakho uma unezimpawu zezinkinga zomchamo noma zezinso.

Isifo sezinso seMedullary cystic yisifo esizuzwe njengefa. Kungenzeka kungavinjelwa.

I-ADTKD; Isifo sezinso sezinso zeMedullary cystic; Isifo sezinso esihambisana no-renin; Ukujwayeleka kwentsha ejwayelekile ye-hyperuricemic nephropathy; I-uromodulin ehambisana nesifo sezinso

• Ukwakheka kwezinso
• I-cyst yezinso enama-gallstones - i-CT scan
• Izinso - ukugeleza kwegazi nomchamo

I-Bleyer AJ, i-Kidd K, i-Živná M, i-Kmoch S. Autosomal isifo sesifo se-tubulointerstitial esiyinhloko. U-Adv Chronic Kidney Dis. 2017; 24 (2): 86-93. I-PMID: 28284384 www.ncbi.nlm.nih.gov/pubmed/28284384.

U-Eckardt KU, Alper SL, Antignac C, et al. Isifo sezinso se-Autosomal esivelele se-tubulointerstitial: ukuxilongwa, ukuhlukaniswa, kanye nokuphathwa - umbiko wokuvumelana we-KDIGO. Izinso Int. 2015; 88 (4): 676-683. I-PMID: 25738250 www.ncbi.nlm.nih.gov/pubmed/25738250.

IGuay-Woodford LM. Ezinye izifo zezinso ze-cystic. Ku: Feehally J, Floege J, Tonelli M, Johnson RJ, abahleli. I-Nephrology Yomtholampilo Ephelele. Umhlaka 6. IPhiladelphia, PA: Elsevier; 2019: isahluko 45.