Autosomal malosi faʻafomaʻi tubulointerstitial fatugaʻo

Autosomal puleʻaga mamai tubulointerstitial fatu (ADTKD) o se kulupu o measina tuʻutuʻuga tulaga e aafia ai tubules o fatugaʻo, mafua ai fatuga faʻasolosolo lemu le mafai ona galulue.

ADTKD e mafua mai i suiga i nisi ituaiga. O nei faʻafitauli genes e pasi i lalo i aiga (tofi) i se autosomal puleʻaga masani. O lona uiga o le kenera kenera e manaʻomia mai naʻo le tasi matua ina ia mafai ai ona mautofi i le faʻamaʻi. E tele taimi e toʻatele tagata o le aiga e maua ile faʻamaʻi.

Faʻatasi ai ma ituaiga uma o ADTKD, a o gasolo atu le faʻamaʻi, ua leaga le totoga fatu. Nei o fausaga i le fatugaʻo e faʻatagaina le tele o vai i le toto e faʻamamaina ma toe foʻi i le toto.

O a latou kenera masani e mafua ai ituaiga eseese o ADTKD o:

• UMOD gaʻo - mafuaʻaga ADTKD-UMOD, poʻo uromodulin fatugaʻo faʻamaʻi
• MUC1 gaʻo - mafuaʻaga ADTKD-MUC1, poʻo le mucin-1 fatugaʻo faʻamaʻi
• REN gaʻo - mafuaʻaga ADTKD-REN, poʻo le aiga juvenile hyperuricemic nephropathy ituaiga 2 (FJHN2)
• HNF1B gaʻo - mafuaʻaga ADTKD-HNF1B, poʻo le matua-onset maʻisuka mellitus o le ituaiga talavou 5 (MODY5)

A le iloa le mafuaʻaga ole ADTKD pe le faia foi se suʻega ole gafa, ua taʻua ole ADTKD-NOS.

I le amataga o le faʻamaʻi, faʻalagolago i le ituaiga o ADTKD, faʻailoga e ono aofia ai:

• Ova tele urination (polyuria)
• Goutu
• Manaʻoga masima
• Urination i le po (nocturia)
• Vaivaiga

A o atili ai le faʻamaʻi, auga o le le mafai fatugao mafai ona tupu, lea e aofia ai:

• Faigofie gagala pe puna toto
• Le lavava, vaivaiga
• Faititili masani
• Tigā ulu
• Faʻateleina lanu paʻu (paʻu ono foliga samasama pe enaena)
• Mageso
• Malaise (lautele maʻi lagona)
• Musika mimigi poʻo papala
• Faanoi
• Paʻu paʻu
• Faʻaitiitia lagona i lima, vae, poʻo isi vaega
• Faʻalu le toto poʻo le toto i totonu o le faʻataʻavalega
• Paʻu pauna
• Faoa faamalosi
• Le mautonu, faaitiitia le mataala, koma

O le a suʻesuʻe oe e le tausi soifua maloloina ma fesili e uiga i ou faʻailoga. Atonu o le a fesiligia oe pe iai isi tagata o le aiga e maua i le ADTKD poʻo le maʻi fatu.

O suʻega e mafai ona faia e aofia ai:

• 24-itula miaga tusi ma electrolytes
• O le urea nitrogen (BUN)
• Faitau atoa le toto (CBC)
• Suʻega ole Creatinine toto
• Faʻamamaina ole Creatinine - toto ma miaga
• Suʻesuʻega o le toto o le Uric acid
• Mama mamana faapitoa (o le a maualalo)

O suʻesuʻega nei e mafai ona fesoasoani e faʻamaonia lenei tulaga:

• Suʻega CT scan
• Laʻititi ultrasound
• Biopsy o fatugaʻo
• Ultrasound fatugaʻo

E leai se togafiti mo ADTKD. Muamua, o togafitiga e taulaʻi ile faʻatonutonuina o faʻailoga, faʻaititia o faʻafitauli, ma lemu ai le alualu i luma ole faʻamaʻi. Talu ai ona o le tele o vai ma masima ua leiloa, oe o le a manaʻomia le mulimuli i faʻatonuga i le inu tele o vai ma inu masima faʻaopoopo e aloese ai mai le faʻavaivai.

A o alualu i luma le faamai, fatugaia toilalo atiina ae. Togafitiga ono aofia ai le inuina o vailaʻau ma suiga o meaʻai, faʻatapulaʻaina meaʻai o loʻo iai le phosphorus ma le potassium. Oe ono manaʻomia dialysis ma se tuiina fatugaʻo.

Ole tausaga e oʻo iai tagata ile ADTKD ile faʻaiuga ole fatugaʻo e eseʻese, faʻalagolago ile faʻavae ole faʻamaʻi. E mafai ona pei talavou e pei o talavou pe i matua matutua. Togafitiga o le olaga atoa e mafai ona taofiofia ai faʻailoga o le maʻi masani o fatugaʻo.

ADTKD ono mafua ai i faʻafitauli nei tau le soifua maloloina:

• Anemia
• Ivi vaivai ma malepe
• Taui o le fatu
• Suiga i le suka suka
• Faʻalavelaveina fatu fatu
• Iuga-tulaga fatugaʻo faamaʻi
• Gastrointestinal toto, papala
• Hemorrhage (tele toto)
• Toto maualuga
• Hyponatremia (maualalo le toto sodium tulaga)
• Hyperkalemia (tele tele potassium i le toto), aemaise lava ma iuga-tulaga fatugaʻo faamaʻi
• Hypokalemia (laʻititi potasiuma i le toto)
• Le fanau
• Faʻafitauli o le itaga
• Faʻamamona
• Pericarditis
• Neuropathy Peripheral
• Platelet faʻaleagaina ma faigofie maosiosia
• E suia le lanu o le paʻu

Valaʻau mo se taimi atofaina ma lau tautua peʻa iai sau faʻailoga o le urinary poʻo le faʻamaʻi fatu.

Medullary cystic fatu faʻamaʻi o se tupu faʻafitauli. Atonu e le mafai ona puipuia.

ADTKD; Faamaʻi fatu fatu cystic Medullary; Renin fesoʻotaʻi fatugao fesoʻotaʻi; Aiga neuraʻi hyperuricemic juvenile matutua; Uromodulin fesoʻotaʻi fatugaʻo faʻamaʻi

• Anatomia fatugaʻo
• Fatugao cyst ma maa faʻapitoa - CT scan
• Fatugaʻo - tafe le toto ma miaga

Bleyer AJ, Kidd K, Živná M, Kmoch S. Autosomal sili ona malosi tubulointerstitial fatugaʻi. Adv Faʻasolosolo Fatugaʻo Dis. 2017; 24 (2): 86-93. PMID: 28284384 www.ncbi.nlm.nih.gov/pubmed/28284384.

Eckardt KU, Alper SL, Antignac C, et al. Autosomal manaʻomia tubulointerstitial fatugaʻo faʻamaʻi: faʻamaoniga, faʻavasegaina, ma pulega - o se maliega maliega lipoti a le KDIGO. Fatugao Int. 2015; 88 (4): 676-683. PMID: 25738250 www.ncbi.nlm.nih.gov/pubmed/25738250.

Guay-Woodford LM. Isi faʻamaʻi fatugao cystic. I le: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. Faʻamatalaga auʻiliʻi. 6th ed. Filatelefia, PA: Elsevier; 2019: chap 45.