Alport syndrome

Alport syndrome o se faʻamaʻi tuufaasolo e faʻaleagaina le laʻitiiti toto i fatugaʻo. E mafua ai foʻi le faʻalogo ma faʻafitauli tau mata.

Alport syndrome o se tofi tuufaʻatasia o le fula toto (nephritis). E mafua mai i se faaletonu (fesuiaʻiga) i se kenera mo se polotini i le fesoʻotaʻiga aano, taʻua o collagen.

E seasea maua le faʻamaʻi. E tolu ituaiga kenera:

• X-fesoʻotaʻi Alport syndrome (XLAS) - O le ituaiga taatele lea. O le faʻamaʻi e sili atu le ogaoga i tama nai lo fafine.
• Autosomal recessive Alport syndrome (ARAS) - O aliʻi ma fafine e tutusa faʻamaʻi ogaoga.
• Autosomal dominant Alport syndrome (ADAS) - Ole ituaiga seasea lea. Tane ma fafine e tutusa faʻamaʻi ogaoga.

KIDNEYS

Faʻatasi ai ma ituaiga uma o le Alport syndrome e afaina ai fatugaʻo. O tamaʻi toto i le glomeruli o fatugaʻo ua faʻaleagaina. O le glomeruli e faʻamama le toto e faia ai le miaga ma aveʻese ai otaota mai le toto.

Muamua, e leai ni faʻailoga. I le aluga o taimi, a o le glomeruli ua tele ma sili atu faʻaleagaina, fatugaʻo gaioiga ua leiloa ma faʻamaʻimau oloa ma suavai fausia i luga o le tino. O le tulaga e mafai ona alualu i luma i le iuga-tulaga faamaʻi Fatugao (ESRD) i le amataga o tausaga, i le va o le talavou ma le tausaga 40. I lenei taimi, dialysis po o se fatugaʻi taotoga e manaʻomia.

Faʻailoga o faʻafitauli fatugaʻo aofia ai:

• Le masani lanu lanu mimi
• Toto i le miaga (lea e mafai ona faʻateteleina i le maualuga o faʻamaʻi manava poʻo faʻamalositino)
• Tigā flank
• Toto maualuga
• Fulafula i le tino atoa

Taliga

I le aluga o taimi, Alport syndrome e mafua ai foi le leiloa o le faʻalogo. I le amataga o talavou, e masani ai i tama ma XLAS, e ui lava i fafine, faʻalogo leiloa e le o se mea masani ma e tupu pe a latou matutua. Faatasi ai ma le ARAS, tama ma teine ​​ua le maua se faʻalogo i le taimi o laiti. Faatasi ai ma ADAS, e tupu mulimuli ane i le olaga.

O le faʻalogo e masani ona tupu aʻo le i paʻu fatu.

MATA

Alport syndrome e mafua ai foʻi faʻafitauli tau mata, e aofia ai:

• Le masani ai foliga ole tioata (luma lenticonus), lea e mafai ona taitai atu ai i se lemu pa'ū i vaʻai faʻapea foi cataract.
• O le faaleagaina o le mata o le eleele lea e i ai le leiloa o le isi itu o le ufiufi o le mata mata, e mafua ai le tiga, mageso, po o le mumu o le mata, poʻo le malamalama vaʻai.
• Le masani valivali o le retina, o se tulaga taʻua o le dot-and-fleck retinopathy. E le mafua ai faʻafitauli vaʻai, ae mafai ona fesoasoani faʻamaonia Alport syndrome.
• Le pu macular e iai le manifinifi poʻo le malepe o le macula. O le makula o se vaega o le retina e faʻateleina ai le vaʻai mamao ma sili atu auiliili. O le pu macular mafua ai faʻanenefu pe faʻasese vaʻai vaʻai.

O le a suʻesuʻe oe e le tausi soifua maloloina ma fesili e uiga i ou faʻailoga.

O suʻega ia e ono faia:

• BUN ma le serum creatinine
• Faitau atoa le toto
• Biopsy o le fatugaʻo
• Urinalysis

Afai e masalomia e lau tautua o loʻo e maua i le Alport syndrome, e ono iai foʻi sau faʻataʻitaʻiga ole vaʻai ma faʻalogo.

O sini o togafitiga e aofia ai le vaʻavaʻaia ma le puleaina o faʻamaʻi ma le togafitia o faʻailoga.

E ono fautuaina e lau tautua se tasi o mea nei:

• Meaʻai e faʻatapulaʻa ai le masima, vai, ma le potassium
• Vailaau e faʻatonutonu ai le toto maualuga

O faʻamaʻi fatugaʻo e faʻatautaia e:

• Aveina o vailaʻau e faifai lemu ai le faʻaleagaina o fatugaʻo
• Meaʻai e faʻatapulaʻa ai le masima, vai ma le polotini

O le faʻalogo leiloa e mafai ona faʻatautaia ma mea faʻalogo. O faʻafitauli tau mata e togafitia pe a manaʻomia. Mo se faʻataʻitaʻiga, e mafai ona suia se tioata e le masani ai ona o le lenticonus poʻo le cataract.

Fautuaina kenera ono fautuaina aua o le faʻamaʻi ua mautofi.

O nei fesoasoani e maua ai nisi faʻamatalaga i le Alport syndrome:

• Alport Syndrome Foundation - www.alportsyndrome.org/about-alport-syndrome
• National Kidney Foundation - www.kidney.org/atoz/content/alport
• National Organization for Rare Disorder - rarediseases.org/rare-diseases/alport-syndrome

E masani ona maua e fafine le ola masani e aunoa ma ni faʻailoga o le faʻamaʻi seʻi vagana le toto ile miaga. I tulaga seasea tupu, fafine i luga toto maualuga, fulafula, ma neura tutuli o se komplication o maitaga.

I aliʻi, tutuli, faʻafitauli vaʻai, ma faʻamaʻi ole fatuga taimi mulimuli e ono aulia le 50 tausaga.

A o le lelei fatugaʻo, dialysis po o se taotoga o le a manaʻomia.

Valaʻau mo sau appointment ma lau tautua peʻafai:

• E i ai auga o le Alport syndrome
• E i ai sau talaʻaga aiga o Alport syndrome ma o loʻo e fuafuaina e faia sau fanau
• E faʻaititia pe taofi lau miti pe e te vaʻaia le toto i lau miaga (atonu o se faʻailoga lenei o faʻamaʻi masani o fatugaʻo)

Faʻalauiloaina o mea lamatia, pei o le aiga talaʻaga o le faʻamaʻi, ono faʻatagaina le tulaga e iloa vave.

Nofoaga nephritis; Hematuria - nephropathy - tutuli; Hemorrhagic nephritis aiga; Tuliina o le tutuli ma le nephropathy

• Anatomia fatugaʻo

Gregory MC. Alport syndrome ma faʻafitauli e fesoʻotaʻi. I: Gilbert SJ, Weiner DE, eds. Faʻavae a le National Kidney Foundation i Faamaʻi Fatugaʻo. 7th ed. Filatelefia, PA: Elsevier; 2018: mata 42.

Radhakrishnan J, Appel GB, DʻAgati VD. Maualuga glomerular faʻamaʻi. I: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner ma Rector's Le Fatugaʻo. 11th lomiga. Filatelefia, PA: Elsevier; 2020: chap 32.

Rheault MN, Kashtan CE. Alport syndrome ma isi aiga faʻateleina glomerular syndromes. I le: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. Faʻamatalaga auʻiliʻi. 6th ed. Filatelefia, PA: Elsevier; 2019: chap 46.