Cystic fibrosis

Cystic fibrosis yog ib qho mob uas ua rau tuab, ua cov hnoos qeev txhaws mus rau hauv lub ntsws, lub plab zom mov, thiab lwm qhov chaw ntawm lub cev. Nws yog ib qho muaj ntau tus kab mob ntsws mob ntsws rau menyuam yaus thiab cov neeg hluas. Nws yog kev phom sij txog txoj sia.

Cystic fibrosis (CF) yog ib tug kab mob kis rau hauv tsev neeg. Nws tshwm sim los ntawm lub cev tsis xws luag uas ua rau lub cev tsim tawm tsis zoo thiab ua kua nplaum, hu ua hnoos qeev. Cov hnoos qeev no tsim lub tshuab ua pa ntawm txoj hlab ntsws thiab lub paj hlwb.

Txoj kev tsim cov hnoos qeev ua rau lub siab ntsws ua rau neeg tuag taus thiab teeb meem kev zom zaub mov. Tus mob kuj tseem tuaj yeem cuam tshuam cov hws cov hws thiab cov txiv neej li kev muaj me nyuam.

Ntau tus neeg muaj tus kabmob CF, tab sis tsis muaj tsos mob. Qhov no vim tias tus neeg mob CF yuav tsum muaj 2 caj ces muaj raws caj ces, 1 tus niam txiv. Qee tus neeg Asmeskas muaj tus kabmob CF. Nws yog ntau dua ntawm cov neeg qaum teb lossis nruab nrab European qhovntsej.

Feem ntau ntawm cov menyuam yaus mob CF tau soj ntsuam thaum muaj hnub nyoog 2 xyoos, tshwj xeeb yog soj ntsuam kuaj cov menyuam mos liab thoob plaws tebchaws Asmeskas. Rau qee tus me me, tus kab mob no tsis kuaj kom txog hnub nyoog 18 lossis laus dua. Cov menyuam yaus feem ntau muaj qhov mob me me ntawm tus kabmob.

Cov tsos mob hauv cov menyuam tshiab tuaj yeem suav nrog:

• Ncua kev loj hlob
• Tsis muaj feem nce phaus lub cev thaum menyuam tseem yau
• Tsis muaj lub plab hnyuv hauv thawj 24 txog 48 teev ntawm lub neej
• Salty-saj cov tawv nqaij

Cov tsos mob ntsig txog txoj hnyuv muaj xws li:

• Mob plab ua los ntawm cem quav heev
• Cov roj ntau dua, tsam plab, lossis lub plab uas zoo li o (txawv txav)
• Xeev siab thiab tsis qab los noj mov
• Cov quav uas yog daj ntseg lossis xim av-xim, tsw zoo nkauj, muaj hnoos qeev, lossis qhov ntab
• Lub cev yuag

Cov tsos mob ntsig txog lub ntsws thiab cov hlab ntsws tuaj yeem suav nrog:

• Kev hnoos lossis ntxiv cov hnoos qeev hauv lub ntsws lossis mob ntsws
• Nkees
• Nasal congestion mob los ntawm qhov ntswg polyps
• Rov muaj dua ib zaug mob ntsws (mob ntsws muaj rau ib tug neeg uas mob cyst ua ke nrog rau ua npaws, hnoos heev thiab ua tsis taus pa, hnoos qeev ntau, thiab tsis qab los).
• Mob los yog mob siab los ntawm tus kab mob los yog mob polyps

Cov tsos mob uas tuaj yeem pom tom qab hauv lub neej:

• Ntxiv lawm tshob (hauv cov txiv neej)
• Rov ua dua ntawm tus kab mob nqaij hlav (pancreatitis)
• Mob ntsws cov tsos mob
• Caws ntiv tes

Kev kuaj ntshav yog ua los pab ntsuas CF. Kev ntsuam xyuas tig mus rau qhov hloov pauv ntawm CF lub cev. Lwm txoj kev siv kuaj mob CF nrog:

• Kev sim tshuaj tiv thaiv kabmob hlwb (IRT) yog ib qho kev ntsuas tus menyuam mos kuaj mob rau CF. Cov theem siab ntawm IRT qhia txog kev tuaj yeem CF thiab xav tau kev sim txuas ntxiv.
• Kev sim tawm hws chloride yog qhov kev ntsuas kev kuaj mob rau CF. Qib ntsev ntau nyob rau hauv tus neeg tawm hws yog qhov qhia ntawm tus kab mob.

Lwm yam kev ntsuam xyuas uas txheeb xyuas cov teeb meem uas tuaj yeem cuam tshuam nrog CF suav nrog:

• Kev ntsuas hluav taws xob xoo hluav taws xob lossis CT scan
• Kev ntsuas rog rog
• Lub ntsws muaj nuj nqi kuaj
• Kev ntsuas ntawm pancreatic muaj nuj nqi (quav pancreatic elastase)
• Kev kuaj kev zais cia zais cia
• Trypsin thiab chymotrypsin hauv cov quav
• Upper GI thiab quav me me ua
• Lub ntsws cov kab lis kev cai (tau los ntawm hnoos qeev, mob ntsws lossis caj pas qog)

Kev paub ntxov ntawm CF thiab hom phiaj xwm kho tuaj yeem txhim kho txoj sia thiab lub neej zoo. Taug qab thiab tshuaj xyuas yog qhov tseem ceeb heev. Thaum tsim nyog, kev saib xyuas yuav tsum tau txais nyob rau hauv chaw kuaj mob cystic fibrosis tshwj xeeb. Thaum menyuam yaus tiav nkauj tiav nraug, lawv yuav tsum hloov mus rau cystic fibrosis tshwj xeeb chaw rau cov neeg laus.

Kev kho mob ntsws muaj xws li:

• Tshuaj tua kab mob los tiv thaiv thiab kho tus mob ntsws thiab mob ntsws. Lawv tuaj yeem noj ntawm qhov ncauj, lossis muab rau hauv cov leeg lossis los ntawm kev ua pa kho mob. Cov neeg mob CF siv tau cov tshuaj tiv thaiv kab mob tsuas yog thaum xav tau, lossis txhua lub sijhawm. Cov koob tshuaj feem ntau siab dua qhov ib txwm ua.
• Nqus tshuaj los pab qhib kev ua pa.
• Lwm yam tshuaj uas muab los ntawm kev kho ua pa rau cov hnoos qeev thiab ua kom yooj yim dua li ua rau hnoos yog kev kho DNA enzyme thiab cov kua ntsev muaj kev daws teeb meem ntau heev (hypertonic saline).
• Cov tshuaj tiv thaiv kev mob ua npaws thiab koob tshuaj pneumococcal polysaccharide (PPV) txhua xyoo (nug koj tus kws kho mob).
• Lub ntsws hloov yog qhov kev xaiv nyob rau qee kis.
• Oxygen kev kho mob tej zaum yuav xav tau thaum mob ntsws hnyav dua.

Lub ntsws muaj teeb meem kuj tau kho nrog cov tshuaj kom nyias hnoos qeev. Qhov no ua rau nws hnoos tau yooj yim dua ntawm lub ntsws.

Cov hau kev no suav nrog:

• Kev qoj ib ce lossis kev tawm dag zog uas ua rau koj ua tsis taus pa tsaug
• Cov cuab yeej siv uas siv thaum nruab hnub los pab tshem cov pa ntawm cov hnoos qeev ntau dhau
• Kev tuav lub hauv siab (los yog lub dag zog hauv siab), uas ib tus neeg hauv tsev neeg lossis kws kho mob tau maj mam npuaj tus neeg hauv siab, nraub qaum, thiab thaj chaw hauv qab npab

Kev kho mob hnyuv thiab zaub mov muaj teeb meem yuav muaj xws li:

• Cov zaub mov tshwj xeeb muaj protein thiab calories ntau rau cov menyuam yaus thiab cov neeg laus
• Pancreatic enzymes pab kom nqus tau cov rog thiab protein, uas noj nrog txhua pluas noj
• Kev pabcuam rau zaubmov, tshwjxeeb yog vitamins A, D, E, thiab K
• Koj tus kws kho mob tuaj yeem qhia lwm cov kev kho mob yog tias koj mob quav tawv heev

Ivacaftor, lumacaftor, tezacaftor, thiab elexacaftor yog cov tshuaj uas kho qee yam mob CF.

• Lawv txhim kho txoj haujlwm ntawm ib qho ntawm cov noob muaj tsis xws luag uas ua rau mob CF.
• Txog li 90% ntawm cov neeg mob CF thiab tsim nyog rau ib lossis ntau ntawm cov tshuaj no ib leeg lossis hauv kev sib xyaw.
• Raws li qhov tshwm sim, muaj tsawg dua kev tsim ntawm tuab cov hnoos qeev hauv lub ntsws. Lwm cov tsos mob CF tau zoo tuaj thiab.

Saib xyuas thiab saib xyuas tom tsev yuav tsum muaj:

• Zam kev haus luam yeeb, plua plav, av, pa taws, tshuaj hauv tsev, pa taws qhov cub, thiab pwm lossis pwm.
• Muab dej kom ntau, tshwj xeeb tshaj yog rau cov menyuam mos thiab menyuam yaus hauv huab cua kub, thaum muaj mob raws plab lossis tso quav, lossis thaum ua haujlwm lub cev.
• Qoj ib ce 2 lossis 3 zaug ib lub lim tiam. Ua luam dej, dhia thiab caij tsheb kauj vab yog qhov kev xaiv zoo.
• Tshem los lossis nqa cov hnoos qeev lossis cov zais ntawm cov hlab pa. Qhov no yuav tsum tau ua 1 mus rau 4 zaug nyob rau ib hnub. Cov neeg mob, cov tsev neeg, thiab cov neeg saib xyuas yuav tsum kawm txog kev ua lub hauv siab thiab lub cev tom qab kom tso dej txhawm rau pab txoj hlab pa huv.
• Tsis muaj kev sib cuag nrog lwm tus neeg uas mob CF yog pom zoo vim tias lawv tuaj yeem sib kis kab mob (tsis siv rau cov neeg hauv tsev neeg).

Koj tuaj yeem daws kev ntxhov siab ntawm kev muaj mob los ntawm kev koom nrog ib pab neeg cystic fibrosis. Faib rau lwm tus uas muaj kev paub ntau yam thiab teeb meem tuaj yeem pab koj tsev neeg tsis xav nyob ib leeg.

Cov menyuam yaus feem ntau mob CF nyob nyab xeeb txog thaum lawv loj tiav hluas. Lawv tuaj yeem koom tes hauv feem ntau cov haujlwm thiab koom nrog tsev kawm. Coob tus tub hluas ntxhais hluas uas muaj CF kawm tiav hauv tsev kawm qib siab los yog nrhiav haujlwm.

Kab mob ntsws thaum kawg ua rau ntau yam ntxiv rau tus neeg xiam oob khab. Niaj hnub no, qhov nruab nrab lub neej nruab nrab rau cov neeg mob CF uas ua lub neej laus yog li 44 xyoo.

Kev tuag feem ntau tshwm sim los ntawm kev mob ntsws.

Qhov tshwm sim feem ntau yog mob ntsws sib kis.

Lwm yam teeb meem suav nrog:

• Cov teeb meem plob tsis so tswj, xws li mob qog, mob plab hnyuv, thiab lub qhov quav tawm
• Kev hnoos ntshav
• Lub ntsws ua tsis tau zoo
• Mob ntshav qab zib
• Ntxiv lawm tshob
• Mob rau daim siab los yog mob rau daim siab ua kom mob, pancreatitis, biliary cirrhosis
• Khoom noj khoom haus tsis muaj zog
• Mob ntsws polyps thiab mob ntsws qhov ntswg
• Txha caj qaum thiab mob caj dab
• Mob ntsws uas pheej rov qab los
• Pneumothorax
• Right-sided heart tsis ua hauj lwm (cor pulmonale)
• Mob hnyuv plab

Hu rau koj tus kws kho mob yog menyuam mos lossis menyuam muaj mob CF, thiab cov kev paub dhau los:

• Kub taub hau, hnoos ntau ntxiv, hloov hnoos qeev lossis ntshav hauv cov hnoos qeev, tsis qab los noj mov, lossis lwm yam cim ntawm mob ntsws.
• Ceeb thawj phaus ntxiv
• Ntau zaus tso quav los yog tso quav uas hnoos lossis hnoos qeev ntau dua
• Ntag plab los yog tsam plab ntxiv tuaj

Hu rau koj tus kws kho mob yog tias tus neeg mob CF pib mob tshiab lossis yog cov tsos mob hnyav dua, tshwj xeeb ua pa nyuaj los yog hnoos tau ntshav.

Tsis tuaj yeem tiv thaiv CF. Kev kuaj cov neeg uas muaj keeb kwm tsev neeg ntawm tus kab mob no tuaj yeem kuaj CF tus kab mob hauv ntau tus neeg nqa khoom.

CF

• Khoom noj khoom haus tsis huv - menyuam - tswj teeb meem
• Gastrostomy pub raj - bolus
• Yuav ua li cas ua pa thaum koj tseem ua pa luv
• Jejunostomy pub raj
• Cov dej paug tom qab

• Xab
• Cov dej paug tom qab
• Caws ntiv tes
• Cystic fibrosis

Donaldson SH, Pilewski JM, Griese M, li al. Tezacaftor / ivacaftor hauv cov ncauj lus cystic fibrosis thiab F508del / F508del-CFTR lossis F508del / G551D-CFTR. Am J Respir Crit Care MedCov. 2018; 197 (2): 214-224. PMID: 28930490 pubmed.ncbi.nlm.nih.gov/28930490/.

Eagan ME, Schechter MS, Voynow JA. Cystic fibrosis. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 432.

Farrell PM, Dawb TB, Ren CL, li al. Kev kuaj mob cystic fibrosis: cov lus qhia kev pom zoo los ntawm Cystic Fibrosis Foundation. J PediatrCov. 2017; 181S: S4-S15.e1. PMID: 28129811 pubmed.ncbi.nlm.nih.gov/28129811/.

Graeber SY, Dopfer C, Naehrlich L, li al. Kev cuam tshuam ntawm lumacaftor / ivacaftor kev kho mob ntawm CFTR ua haujlwm hauv Phe508del cov neeg mob homozygous nrog cystic fibrosis. Am J Respir Crit Care MedCov. 2018; 197 (11): 1433-1442. PMID: 29327948 pubmed.ncbi.nlm.nih.gov/29327948/.

Grasemann H. Cystic fibrosis. Hauv: Goldman L, Schafer AI, eds. Goldman-Cecil TshuajCov. 26th ed. Philadelphia, PA: Elsevier; 2020: chap 83.

Rowe SM, Hoover W, Solomon GM, Sorscher EJ. Cystic fibrosis. Hauv: Broaddus VC, Mason RJ, Ernst JD, li al, eds. Murray thiab Nadel Cov Ntawv Phau Ntawv Qhia Txog Cov PaCov. 6 tus ed. Philadelphia, PA: Elsevier Saunders; 2016: chap 47.

Taylor-Cousar JL, Munck A, McKone EF, li al. Tezacaftor-ivacaftor hauv cov neeg mob cystic fibrosis homozygous rau phe508del. N Engl J MedCov. 2017; 377 (21): 2013-2023. PMID: 29099344 pubmed.ncbi.nlm.nih.gov/29099344/.