Isifo sezintso esihamba phambili kwi-Autosomal

Isifo sezintso esine-Autosomal esilawulayo (ADTKD) liqela leemeko ezizuzwe njengelifa ezichaphazela iitubules zezintso, ezibangela ukuba izintso ziphulukane namandla azo okusebenza.

I-ADTKD ibangelwa kukutshintsha kweendidi ezithile zofuzo. Ezi ngxaki zemfuza zidluliswa kwiintsapho (ezizuzwe njengelifa) kwipatheni ye-autosomal ephezulu. Oku kuthetha ukuba ufuzo olungaqhelekanga luyafuneka kumzali omnye kuphela ukuze usifumane esi sifo. Rhoqo, amalungu amaninzi osapho anesi sifo.

Ngazo zonke iintlobo ze-ADTKD, njengoko esi sifo siqhubeka, iityhubhu zezintso zonakele. Ezi zizakhiwo kwizintso ezivumela amanzi amaninzi egazini ukuba ahluzwe kwaye abuyiselwe egazini.

Imfuza yabo engaqhelekanga edala iintlobo ezahlukeneyo ze-ADTKD zezi:

• UMOD Uhlobo lwe-gene-lubangela i-ADTKD-UMOD, okanye isifo sezintso se-uromodulin
• MUC1 Uhlobo lwe-gene-lubangela i-ADTKD-MUC1, okanye isifo se-mucin-1 sezintso
• Uluhlu lwamagama egama Rene Uhlobo lwe-gene-lubangela i-ADTKD-Uluhlu lwamagama egama Rene, okanye uhlobo losapho lwe-neypropathy 2 (FJHN2)
• HNF1B Uhlobo lwesifo - lubangela i-ADTKD-HNF1B, okanye ukukhula kwesifo seswekile sohlobo olutsha lwe5 (MODY5)

Xa unobangela we-ADTKD ungaziwa okanye uvavanyo lwemfuzo lungakhange lwenziwe, ibizwa ngokuba yi-ADTKD-NOS.

Ekuqaleni kwesi sifo, kuxhomekeke kwifom ye-ADTKD, iimpawu zingabandakanya:

• Ukuchama kakhulu (polyuria)
• Igawuthi
• Iminqweno yetyuwa
• Ukuchama ebusuku (nocturia)
• Ubuthathaka

Njengoko isifo siba sibi, iimpawu zokungaphumeleli kwezintso zingakhula, ezibandakanya:

• Ukutyumza ngokulula okanye ukopha
• Ukudinwa, ubuthathaka
• Ii-hiccups rhoqo
• Intloko ebuhlungu
• Ukwanda kombala wesikhumba (ulusu lunokubonakala luphuzi okanye lube mdaka)
• Ukurhawuzelela
• UMalaise (ukugula ngokubanzi)
• Ukudibanisa izihlunu okanye iicramps
• Isicaphucaphu
• Ulusu oluthuthu
• Ukuncipha kovalo ngaphakathi kwezandla, iinyawo, okanye ezinye iindawo
• Ukuphalaza igazi okanye igazi esitulweni
• Ukuhla ukusinda
• Ukuxhuzula
• Ukudideka, ukunciphisa ukulumka, isiqaqa

Umboneleli wezempilo uyakukuvavanya akubuze malunga neempawu zakho. Uya kucelwa ukuba amanye amalungu osapho ane-ADTKD okanye isifo sezintso.

Uvavanyo olunokwenziwa lunokubandakanya:

• Umthamo womchamo weeyure ezingama-24 kunye nee-electrolyte
• Igazi urea nitrogen (BUN)
• Gcwalisa ubalo lwegazi (CBC)
• Uvavanyo lwegazi lwe-Creatinine
• Ukucoca creatinine - igazi kunye nomchamo
• Uric acid uvavanyo lwegazi
• Umchamo othile womxhuzulane (uya kuba sezantsi)

Olu vavanyo lulandelayo lunokunceda ukufumanisa le meko:

• Ukuskena kwe-CT esiswini
• I-ultrasound yesisu
• Isifo sezintso
• Isifo sezintso

Akukho lunyango lwe-ADTKD. Ekuqaleni, unyango lujolise kulawulo lweempawu, ukunciphisa iingxaki, kunye nokunciphisa ukuqhubela phambili kwesi sifo. Kuba amanzi kunye netyuwa eninzi ilahlekile, kuya kufuneka ulandele imiyalelo yokusela ulwelo oluninzi kunye nokuthatha izongezo zetyuwa ukunqanda ukomisa.

Njengokuba isifo siqhubeka, ukusilela kwezintso kuyakhula. Unyango lunokubandakanya ukuthatha amayeza kunye notshintsho kwindlela otya ngayo, ukunciphisa ukutya okunephosphorus kunye ne potassium. Unokufuna i-dialysis kunye nokufakelwa kwezintso.

Ubudala apho abantu abane-ADTKD bafikelela kwinqanaba lokugqibela lesifo sezintso siyahluka, kuxhomekeka kwimeko yesi sifo. Ingabancinci njengakwishumi elivisayo okanye ebudaleni. Unyango lobomi bonke lunokulawula iimpawu zesifo sezintso ezingapheliyo.

I-ADTKD inokukhokelela kwezi ngxaki zilandelayo zempilo:

• Ukunqongophala kwegazi
• Amathambo atyhafa kunye nokwaphuka
• I-tamponade yentliziyo
• Utshintsho kwimetabolism yeglucose
• Ukusilela kwentliziyo
• Isifo sokugqibela sezintso
• Ukopha emathunjini, izilonda
• Ukopha (ukopha kakhulu)
• Igazi elonyukayo
• I-Hyponatremia (inqanaba eliphantsi le-sodium)
• IHyperkalemia (i-potassium eninzi egazini), ngakumbi isifo sesifo sezintso
• I-Hypokalemia (i-potassium encinci kakhulu egazini)
• Ukungachumi
• Iingxaki zokuya exesheni
• Ukuphuma kwesisu
• Pericarditis
• I-peripheral neuropathy
• Ukungasebenzi kakuhle kweplatelet ngokugruzuka ngokulula
• Utshintsho kumbala wolusu

Biza ixesha lokubonana nomboneleli wakho ukuba unayo nayiphi na impawu yeengxaki zomchamo okanye zezintso.

Isifo sesifo sezintso seMedullary sisifo esizuzwe njengelifa. Isenokungathintelwa.

I-ADTKD; Isifo sesifo sezintso; Renin isifo sezintso; Ulutsha oluqhelekileyo lwe-neurropicemic nephropathy; I-Uromodulin inxulumene nesifo sezintso

• I-anatomy yezintso
• Izintso zezintso ezinama-gallstones - i-CT scan
• Izintso - ukuhamba kwegazi kunye nomchamo

Bleyer AJ, Kidd K, Živná M, Kmoch S. Autosomal isifo sesifo sezintso. Ugqwetha lweeNtso ezingapheliyo. Ngo-2017; 24 (2): 86-93. IINKCUKACHA: 28284384 www.ncbi.nlm.nih.gov/pubmed/28284384.

Eckardt KU, Alper SL, Antignac C, et al. Isifo sesifo sezintso esihamba phambili kwi-Autosomal: isifo, isifo, kunye nolawulo-ingxelo yemvumelwano ye-KDIGO. Izintso Int. 2015; 88 (4): 676-683. IINKCUKACHA: 25738250 www.ncbi.nlm.nih.gov/pubmed/25738250.

IGuay-Woodford LM. Ezinye izifo zezintso. Ku: Feehally J, Floege J, Tonelli M, Johnson RJ, ii-eds. I-Clinical Nephrology epheleleyo. Umhla wesi-6. IPhiladelphia, PA: Elsevier; I-2019: isahluko 45.