ʻO ka maʻi maʻi maʻi Autosomal domino tubulointerstitial

ʻO Autosomal domant tubulointerstitial maʻi maʻi maʻi (ADTKD) kahi hui o nā kūlana hoʻoilina e pili ana i nā tubules o nā puʻupaʻa, e lilo ana i nā puʻupaʻa e lilo mālie i ko lākou hiki ke hana.

Hoʻokumu ʻia ʻo ADTKD e nā hoʻololi ʻana i kekahi mau ʻaoʻao. Hoʻoholo ʻia kēia mau pilikia kūpuna i waena o nā ʻohana (hoʻoilina) i kahi mana autosomal. ʻO kēia ka mea e pono ai ka gen abnormal mai hoʻokahi makua wale nō i mea e ili ai ka maʻi. ʻO ka manawa pinepine, nui nā lālā ʻohana i loaʻa i ka maʻi.

Me nā ʻano ADTKD āpau, ke holo nei ka maʻi, ua hōʻino ʻia nā tubules hakuʻala. ʻO kēia nā hale i nā puʻupaʻa e ʻae ai e hoʻopili ʻia ka nui o ka wai i ke koko a hoʻi i ke koko.

ʻO kā lākou gen gen abnormal i kumu i nā ʻano ʻokoʻa o ADTKD:

• UMOD ʻĀpana - kumu ADTKD-UMOD, a i ʻole maʻi maʻi uromodulin
• MUC1 ʻĀpana - kumu ADTKD-MUC1, aiʻole mucin-1 maʻi maʻi maʻi
• REN ʻĀpana - kumu ADTKD-REN, a i ʻole ʻohana ʻōpio hyperuricemic nephropathy ʻano 2 (FJHN2)
• HNF1B ʻĀpana - kumu ADTKD-HNF1B, a i ʻole ke oʻo ʻana o ka maʻi diabetes mellitus o ke ʻano ʻōpio 5 (MODY5)

Ke ʻike ʻole ʻia ke kumu o ADTKD a i ʻole hana ʻia kahi hoʻokolohua kūlohelohe, ua kapa ʻia ʻo ADTKD-NOS.

I ka wā mua o ka maʻi, ke kaukaʻi ʻia i ke ʻano o ADTKD, e hoʻopili ʻia nā ʻōuli:

• Urination nui loa (polyuria)
• Goute
• Makemake paʻakai
• Urination i ka pō (nocturia)
• Nawaliwali

Ke piʻi a maʻi nei ka maʻi, hiki ke hoʻomohala i nā ʻōuli o ke kō ʻole o ke kōpū, e hoʻopili pū ʻia me:

• Māʻeha a hoʻokahe wale paha
• Ka luhi, nāwaliwali
• Nā hiccup pinepine
• ʻEha poʻo
• Hoʻonui ʻia ka ʻili o ka ʻili (ʻike melemele a ʻeleʻele paha ka ʻili)
• Kāwili
• Malaise (manaʻo maʻi nui)
• Pākuʻi i ka mākala a i ʻole ke ʻūlū
• Nusea
• ʻIli pale
• Hoʻoemi i ka sensation i nā lima, nā wāwae, a i ʻole nā ​​wahi ʻē aʻe
• ʻO ka ninini ʻana i ke koko a i ʻole ke koko i ka noho
• Kaumaha emi
• Ka hopu ʻana i nā maʻi
• Huikau, hoʻēmi i ka makaʻala, koma

E nānā ka mea mālama ola iā ʻoe a nīnau e pili ana i kāu mau hōʻailona. E nīnau ʻia paha ʻoe inā pili ka ʻohana ʻē aʻe i kahi ADTKD a i ʻole nā ​​maʻi puʻupaʻa.

ʻO nā hoʻāʻo e hana ʻia ana paha:

• 24-hola mimi ka nui a me nā electrolytes
• ʻO nitrogen urea koko (BUN)
• Helu piha koko (CBC)
• Hōʻike koko Creatinine
• ʻO ka hoʻomaʻemaʻe Creatinine - ke koko a me ka mimi
• Hōʻike koko ʻakika uric
• Ka umekaumaha kikoʻī (e haʻahaʻa)

Hiki i nā hōʻike aʻe ke kōkua i ke koho ʻana i kēia ʻano:

• Scanner CT ʻōpū
• ʻO ke ultrasound ʻōpū
• ʻO Biopsy hakuʻala
• Pākuʻi ultrasound

ʻAʻohe lāʻau lapaʻau no ADTKD. I ka manawa mua, kau ka lāʻau i ka kaohi ʻana i nā ʻōuli, hoʻoliʻiliʻi i nā pilikia, a me ka hoʻolōʻihi ʻana i ka holomua o ka maʻi. Ma muli o ka nui o ka wai a me ka paʻakai e nalowale, pono ʻoe e hāhai i nā ʻōkuhi no ka inu ʻana i nā wai a me ka lawe ʻana i nā mea paʻakai no ka hōʻalo ʻana i ka make wai.

Ke holo nei ka maʻi, ulu ka hakuʻala ʻole. Hoʻopili paha ka mālama ʻana i ka lawe ʻana i nā lāʻau a me nā loli o ka papaʻai, ka palena ʻana i nā meaʻai i loaʻa ka phosphorus a me ka potassium. Hiki paha iā ʻoe ke dialysis a me kahi transplant kidney.

ʻO nā makahiki kahi o ka poʻe me ADTKD e hōʻea ai i nā maʻi ʻōiwi pae hope loa e like me ka ʻano o ka maʻi. Hiki iā ia ke ʻōpio e like me ka wā ʻōpio a i ka wā makua makua. Hiki i ka mālama ola ʻana ke kaohi i nā ʻōuli o ka maʻi maʻi maʻi mau.

Hiki i ADTKD ke alakaʻi i nā pilikia olakino e hiki mai ana:

• Anemia
• Nāwaliwali ka iwi a me nā haki
• ʻO tamponade Cardiac
• Nā loli i ka metabolism glucose
• Hoka puʻuwai Congestive
• ʻO ka maʻi hōʻeha hope loa
• Kahe koko gastrointestinal, ulcer
• Hemorrhage (kahe nui ke koko)
• Piʻi koko kiʻekiʻe
• Hyponatremia (haʻahaʻa pae sodium sodium)
• Hyperkalemia (nui loa ka pāhare potassium i ke koko), keu hoʻi me nā maʻi puʻupaʻa hopena
• Hypokalemia (ʻoi loa ka potassium i ke koko)
• Hoʻoipo
• Nā pilikia ma ka manawa
• Hāʻule hāʻule
• Pericarditis
• Neuropathy ākea
• Hoʻomaʻemaʻe ka pāpale me ka palu maʻalahi
• Hoʻololi ke kala o ka ʻili

Kāhea i kahi manawa me kāu mea lawelawe inā loaʻa iā ʻoe kekahi mau ʻōuli o nā pilikia mimi a me nā puʻupaʻa paha.

ʻO ka maʻi maʻi maʻi medullary cystic kahi maʻi hoʻoilina. ʻAʻole hiki ke pale ʻia.

ADTKD; Maʻi maʻi kōpaʻa cystic Medullary; Renin pili ka maʻi maʻi pūhaka ʻO ka nephropathy ʻōpio hyperuricemic ʻōpio; ʻO Uromodulin e pili ana i ka maʻi puʻuwai

• Anatomia hakuʻala
• Pākuʻi hakuʻala me nā koʻohaku - CT scan
• ʻO Kidney - ke kahe o ke koko a me ka mimi

ʻO Bleyer AJ, Kidd K, Živná M, Kmoch S. Autosomal ka maʻi koʻikoʻi tubulointerstitial maʻi maʻi. ʻO Adv Chronic Kidney Dis. 2017; 24 (2): 86-93. PMID: 28284384 www.ncbi.nlm.nih.gov/pubmed/28284384.

Eckardt KU, Alper SL, Antignac C, et al. ʻO Autosomal mana nui tubulointerstitial maʻi maʻi maʻi: ʻike, hoʻokaʻawale ʻana, a me ka hoʻokele - kahi hōʻike manaʻo kuhi o ka KDIGO. Int. 2015; 88 (4): 676-683. PMID: 25738250 www.ncbi.nlm.nih.gov/pubmed/25738250.

ʻO Guay-Woodford LM. Nā maʻi maʻi cystic ʻē aʻe. I: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. Nā Nephrology Haumāna piha. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2019: chap 45.