ʻO Alport Syndrome

ʻO Alport Syndrome kahi maʻi hoʻoilina e hōʻino ai i nā kīʻaha koko liʻiliʻi i nā puʻupaʻa. Hoʻopilikia ʻia hoʻi ka nalo ʻana o ka pepeiao a me nā pilikia o ka maka.

ʻO Alport Syndrome kahi ʻano hoʻoilina o ke kanulau (nephritis). Hoʻokumu ʻia ia e kahi kīnā (mutation) i kahi ʻāpana no kahi protein i loko o ka pūnaewele hoʻopili, i kapa ʻia ʻo collagen.

Kākaʻikahi ka maʻi. ʻEkolu mau ʻano kūpuna:

• X-pili Alport Syndrome (XLAS) - ʻO kēia ka ʻano maʻamau. ʻOi aku ka maʻi o ka maʻi i nā kāne ma mua o ka wahine.
• ʻO Autosomal recessive Alport Syndrome (ARAS) - Loaʻa nā maʻi like ʻole i nā kāne a me nā wahine.
• ʻO ka Autosomal domic Alport Syndrome (ADAS) - ʻO kēia ka ʻano rarest. Loaʻa nā maʻi like ʻelua i nā kāne a me nā wahine.

KIDNEYS

Me nā ʻano maʻi Alport āpau e hoʻopili ʻia nā puʻupaʻa. Hoʻopōʻino ʻia nā kīʻaha koko liʻiliʻi i ka glomeruli o nā puʻupaʻa. Hoʻopili ke glomeruli i ke koko e hana i ka mimi a hemo i nā huahana neoneo mai ke koko.

I ka mua, ʻaʻohe hōʻailona. I ka hala ʻana o ka manawa, no ka mea ʻoi aku ka nui o ka pōʻino o ka glomeruli, ua nalowale ka hana ʻōpala a kūkulu nā huahana neoneo a me nā wai i loko o ke kino. Hiki i ke kūlana ke holomua i ka hopena hōʻino pae (ESRD) i ka wā ʻōpio, ma waena o ka ʻōpio a me nā makahiki 40. I kēia manawa, pono ka dialysis a i ʻole ke kuʻi kidney.

ʻO nā ʻōuli o nā pilikia pākī me:

• Waihona mimi maʻamau
• Koko i loko o ka mimi (i hiki ke hoʻonui ʻia e nā maʻi hanu kiʻekiʻe a i ʻole hoʻoikaika kino)
• ʻEha Flank
• Piʻi koko kiʻekiʻe
• ʻO ka pehu a puni ke kino

Pepeiao pepeiao

I ka hala ʻana o ka manawa, alakaʻi ʻo Alport Syndrome i ka nalo ʻana o ka lohe. I nā ʻōpio mua, he mea maʻamau ia i nā kāne me XLAS, ʻoiai i nā wahine, ʻaʻole maʻamau ka nalo ʻana o ka lohe a hana ʻia i ka wā makua. Me ARAS, loaʻa i nā keikikāne a me nā kaikamāhine ka lohe pepeiao i ka wā kamaliʻi. Me ADAS, kū ia ma hope o ke ola.

Kū pinepine ka nalo lohe ma mua o ka holo pono ʻole o ka hakuʻala.

NA MAKA

Alakaʻi pū kekahi ʻo Alport Syndrome i nā pilikia o ka maka, me:

• ʻO ke ʻano maʻamau o ke aniani (lenticonus mua), hiki ke alakaʻi i kahi emi lohi o ka ʻike a me nā cataract.
• Holo ke kolo i kahi nalowale o ka papa waho o ka uhi o ka maka maka, alakaʻi i ka ʻeha, ʻili a ʻulaʻula paha o ka maka, a i ʻole ka ʻike maka.
• ʻO ke kala maʻamau o ka retina, kahi ʻano i kapa ʻia dot-and-fleck retinopathy. ʻAʻole ia he kumu o nā pilikia o ka ʻike, akā hiki ke kōkua i ke kuhi ʻana i ka maʻi Alport.
• ʻO ka puka macular kahi e lahilahi a haki paha i ka macula. ʻO ka macula kahi ʻāpana o ka retina e hoʻonui ai i ka ʻike i ke kikowaena a me nā kikoʻī. ʻO kahi puka macular ke kumu o ka hihi a i ʻole ʻike kekeʻe i ka hihiʻo waena.

E nānā ka mea mālama ola iā ʻoe a nīnau e pili ana i kāu mau hōʻailona.

E hana ʻia paha kēia mau hoʻāʻo:

• BUN a me ka serum creatinine
• Helu piha koko
• ʻO Biopsy Renal
• Urinalysis

Inā manaʻo ʻoe he mea loaʻa kāu maʻi Alport, loaʻa paha iā ʻoe nā hoʻokolohua ʻike a me ka hoʻolohe ʻana.

ʻO nā pahuhopu o ka mālama ʻana me ka nānā ʻana a me ka kaohi ʻana i ka maʻi a me ka mālama ʻana i nā ʻōuli.

E ʻōlelo paha kāu mea hāʻawi i kekahi o kēia mau mea:

• ʻO kahi papaʻai e kaupalena ana i ka paʻakai, nā wai, a me ka pāhare potassium
• Nā lāʻau e kāohi i ke kahe kiʻekiʻe

Mālama ʻia ka maʻi ʻino e:

• ʻO ka lawe ʻana i nā lāʻau e hoʻolohi ai i ka hōʻino o ka hakuʻala
• ʻO kahi papaʻai e kaupalena ana i ka paʻakai, nā wai, a me ka protein

Hiki ke mālama ʻia ka nalo ʻana o ka lohe me nā mea kōkua lohe. Mālama ʻia nā pilikia o ka maka ke pono. ʻO kahi laʻana, hiki ke hoʻololi i kahi aniani kūpono ʻole ma muli o ka lenticonus a i ʻole nā ​​cataract.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic no ka mea ua hoʻoilina ka maʻi.

Hāʻawi kēia mau kumuwaiwai i ka ʻike hou aku e pili ana i ka 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

Loaʻa i nā wahine ke ola maʻamau me ka ʻole o nā hōʻailona o ka maʻi koe wale no ke koko i ka mimi. I nā hihia maʻamau, loaʻa i nā wahine ke koko kiʻekiʻe, ka pehu ʻana, a me nā kuli nerve e like me ka pilikia o ka hāpai ʻana.

I nā kāne, kuli, pilikia pilikia o ka ʻike, a me nā maʻi puʻupaʻa hopena pae e ka 50 mau makahiki.

Ke holo pono ʻole nā ​​puʻupaʻa, pono ka dialysis a i kahi transplant paha.

Kāhea i kahi manawa me kāu mea hāʻawi inā:

• Loaʻa iā ʻoe nā ʻōuli o ka maʻi Alport
• He moʻolelo ʻohana kāu na Alport Syndrome a ke hoʻolālā nei ʻoe i nā keiki
• Hoʻoemi a kū paha kāu puka mimi a ʻike paha ʻoe i ke koko i loko o kāu mimi (he hōʻailona paha kēia o ka maʻi maʻi maʻi mau)

ʻO ka hoʻomaopopo ʻana i nā kumu pilikia, e like me ka mōʻaukala ʻohana o ka maʻi, e ʻae paha e ʻike koke ʻia ke ʻano.

Nephritis hoʻoilina; Hematuria - nephropathy - kuli; Nephritis ʻohana hemorrhagic; ʻO ke kuli hoʻoilina a me ka nephropathy

• Anatomia hakuʻala

ʻO Gregory MC. Alport syndrome a me nā maʻi e pili pū ana. I: Gilbert SJ, Weiner DE, eds. ʻO ka National Primer Foundation ma ka maʻi maʻi maʻi. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 42.

Radhakrishnan J, Appel GB, DʻAgati VD. Maʻi glomerular lua. I: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. ʻO Brenner a me Rector's The Kidney. 11th hua. Piladelapia, PA: Elsevier; 2020: chap 32.

ʻO Rheault MN, Kashtan CE. ʻO Alport Syndrome a me nā syndrome glomerular ʻohana ʻē aʻe. I: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. Nā Nephrology Haumāna piha. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2019: chap 46.