Autosomal lefu le ka sehloohong la lefu la liphio

Lefu la liphio la Autosomal le tsebahalang haholo ke lefu la liphio (ADTKD) ke sehlopha sa maemo a futsitsoeng a amang li-tubules tsa liphio, tse etsang hore liphio li lahleheloe ke bokhoni ba tsona ba ho sebetsa butle butle.

ADTKD e bakoa ke liphetoho tse bang teng liphatseng tsa lefutso tse ling. Mathata ana a liphatsa tsa lefutso a fetisoa ka malapa (a futsitsoeng) ka mokhoa o ikhethileng oa autosomal. Sena se bolela hore liphatsa tsa lefutso tse sa tloaelehang li hlokahala ho motsoali a le mong feela molemong oa ho rua lefu lena. Hangata, litho tse ngata tsa malapa li na le lefu lena.

Ka mefuta eohle ea ADTKD, ha lefu lena le ntse le tsoela pele, li-tubules tsa liphio li senyehile. Tsena ke likarolo tsa liphio tse lumellang metsi a mangata maling hore a tlhotloe ebe a khutlisetsoa maling.

Liphatsa tsa lefutso tse sa tloaelehang tse bakang mefuta e fapaneng ea ADTKD ke:

• UMOD liphatsa tsa lefutso - li baka ADTKD-UMOD, kapa lefu la liphio la uromodulin
• MOTSOA1 liphatsa tsa lefutso - li baka ADTKD-MOTSOA1, kapa lefu la liphio la mucin-1
• HLAHLISA REN liphatsa tsa lefutso - li baka ADTKD-HLAHLISA REN, kapa mofuta oa bana oa lelapa oa hyperuricemic nephropathy mofuta oa 2 (FJHN2)
• HNF1B liphatsa tsa lefutso - li baka ADTKD-HNF1B, kapa kholo e qalang ea lefu la tsoekere la mofuta o monyane oa 5 (MODY5)

Ha sesosa sa ADTKD se sa tsejoe kapa tlhahlobo ea liphatsa tsa lefutso e sa etsoa, ​​e bitsoa ADTKD-NOS.

Mathoasong a lefu lena, ho latela mofuta oa ADTKD, matšoao a ka kenyelletsa:

• Ho ntša metsi haholo (polyuria)
• Gout
• Litakatso tsa letsoai
• Ho rota bosiu (nocturia)
• Bofokoli

Ha lefu lena le ntse le mpefala, matšoao a ho hloleha ha liphio a ka hlaha, a kenyeletsang:

• Ho loma habonolo kapa ho tsoa mali
• Mokhathala, bofokoli
• Li-hiccups khafetsa
• Ho opeloa ke hlooho
• 'Mala o eketsehileng oa letlalo (letlalo le ka bonahala le le mosehla kapa le sootho)
• Ho hlohlona
• Malaise (ho kula ka kakaretso)
• Ho tsitsinyeha hoa mesifa kapa ho kerema
• Ho nyekeloa
• Letlalo le putswa
• Ho theola maikutlo matsohong, maotong kapa libakeng tse ling
• Ho hlatsa madi kapa madi setulong
• Ho fokotsa boima ba 'mele
• Ho oa
• Pherekano, ho fokotsa ho falimeha, ho akheha

Mofani oa tlhokomelo ea bophelo o tla u hlahloba le ho botsa matšoao a hau. Mohlomong u tla botsoa hore na litho tse ling tsa lelapa li na le ADTKD kapa lefu la liphio.

Liteko tse ka etsoang li kenyelletsa:

• Molumo oa lihora tse 24 le li-electrolyte
• Naetrojene ea mali ea urea (BUN)
• Palo e felletseng ea mali (CBC)
• Teko ea mali ea Creatinine
• Tlhaloso ea Creatinine - mali le moroto
• Teko ea mali ea Uric acid
• Motsoako o itseng oa khoheli (o tla ba tlase)

Liteko tse latelang li ka thusa ho fumana boemo bona:

• Tlhaloso ea mpa ea mpa
• Mpa ea ka mpeng
• Liphio biopsy
• Liphio tsa ultrasound

Ha ho na pheko bakeng sa ADTKD. Qalong, kalafo e shebile ho laola matšoao, ho fokotsa mathata, le ho liehisa kholo ea lefu lena. Hobane metsi le letsoai li lahlehile, o tla hloka ho latela litaelo tsa ho noa maro a mangata le ho noa matsoai ho qoba ho felloa ke metsi.

Ha lefu lena le ntse le tsoela pele, ho hloleha ha liphio ho ea pele. Kalafo e ka kenyelletsa ho noa meriana le liphetoho lijong, ho fokotsa lijo tse nang le phosphorus le potasiamo. U kanna ua hloka dialysis le ho kenella liphio.

Lilemo tseo batho ba nang le ADTKD ba fihlelang lefu la liphio qetellong li fapana, ho latela mofuta oa lefu lena. E ka ba mocha joalo ka lilemong tsa bocha kapa ho batho ba baholo. Kalafo ea bophelo bohle e ka laola matšoao a lefu le sa foleng la liphio.

ADTKD e ka lebisa mathateng a latelang a bophelo bo botle:

• Khaello ea mali
• Ho fokola ha masapo le ho robeha
• Tamponade ea pelo
• Liphetoho metabolism metabolism
• Ho hloleha ha pelo ha pelo
• Boloetse ba liphio qetellong
• Ho tsoa mali ka mpeng, liso
• Ho tsoa mali (ho tsoa mali haholo)
• Khatello ea mali e phahameng
• Hyponatremia (boemo bo tlase ba mali ba sodium)
• Hyperkalemia (potasiamo e ngata haholo maling), haholoholo lefu la liphio
• Hypokalemia (potasiamo e nyane haholo maling)
• Ho hloka thari
• Mathata a ho ilela khoeli
• Ho nyopa
• Pericarditis
• Pheripheral neuropathy
• Ho se sebetse ha Platelet ka matetetso a bonolo
• Mmala oa letlalo oa fetoha

Bitsa kopano le mofani oa hau haeba u na le matšoao a mathata a ho ntša metsi kapa a liphio.

Boloetse ba liphio ba medullary ke bokuli bo futsitsoeng. E kanna ea se thibeloe.

ADTKD; Lefu la liphio la cystic liphio; Renin e amanang le lefu la liphio; Tloaelo ea bana ea ho itšireletsa mafung; Uromodulin e amanang le lefu la liphio

• Anatomy ea liphio
• Liphio cyst le gallstones - CT scan
• Liphio - phallo ea mali le moroto

Bleyer AJ, Kidd K, Živná M, Kmoch S. Autosomal lefu le ka sehloohong la lefu la liphio. Adv Chronic Kidney Dis. 2017; 24 (2): 86-93. PMID: 28284384 www.ncbi.nlm.nih.gov/pubmed/28284384.

Eckardt KU, Alper SL, Antignac C, le al. Autosomal lefu le ka sehloohong la lefu la liphio: ho hlahlojoa, tlhophiso le tsamaiso - tlaleho ea tumellano ea KDIGO. Liphio Int. 2015; 88 (4): 676-683. PMID: 25738250 www.ncbi.nlm.nih.gov/pubmed/25738250.

Guay-Woodford LM. Maloetse a mang a liphio tsa cystic. Ho: Feehally J, Floege J, Tonelli M, Johnson RJ, bangoli. Kakaretso ea Nephrology ea Kliniki. La 6th. Philadelphia, PA: Elsevier; 2019: khaolo ea 45.