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Fibroza chistica Flashcards

1
Q

Ce este CFTR?

A

canal de Cl reglat de AMPc imp pt transportul prin MC a Na,Cl, HCO3

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2
Q

Cea mai importanta complicatie a bolii

A

degradarea functiei pulmonare

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3
Q

cum apare degradarea fct pulmonare?

A

prin infectii cronice si colonizare CR cu oportunisti

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4
Q

relatia genotip-fenotip

A

puternica-fenotipul pancreatic, ileus meconial, diabet
variabila-afectarea pulmonara

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5
Q

Modulatori genetici

A

TGF, MBL, NOS, glutation,IL, mucine

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6
Q

functia CFTR

A

absorbtia Na si Cl din lumen in celula, daca e absenta ramane in lumen

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7
Q

teoria low volume

A

creste activitatea ENAC in ep cailor aeriene=>ingrosare mucus

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8
Q

manifestari clasice

A

malnutritie, diaree cu steatoree, tuse productiva persistenta

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9
Q

manifestari prenatale

A

eco:hiperecogenitate la nivel intestinal, dilatatii intestinale, mase hiperecogene, +/- peritonita meconiala

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10
Q

manifestari clinice la nou nascut

A

-ileus meconial
-falimentul cresterii prin -malabsorbtie
-icter prelungit
-gust sarat al sudorii
-deficit de vitamine liposolubile ADK
-deshidratare
-scaune grasoase
-acrodermatitis atrophicans
-wheezing
-maini de spalatoreasa

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11
Q

semnul chitului

A

palparea unei anse pline cu meconiu

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12
Q

tablou clinic in ileus meconial

A

meteorism abdominal

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13
Q

manifestari clinice respiratorii sugar si copil

A

tuse cronica, pneumonii, wheezing, sinuzita cronica, polipoza nazala

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14
Q

manifestari non respiratorii sugar si copil

A

falimentul cresterii, prolaps rectal, anemie, edeme, deshidratare, colestaza

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15
Q

manifestari la adolescent si adult

A

cele respiratorii de la sugar, bronsiectazii, hipocratism digital, pansinuzita cronica, polipoza nazala, inf cu germeni atipici, ABPA

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16
Q

hipocratism digital stadiu 1

A

fluctuenta si inmuierea patului unghial

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17
Q

hipocratism digital stadiu 2

A

alterarea ungiului Lovebond peste 165 de grade

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18
Q

hipocratism digital stadiu 3

A

creste convexitatea patului unghial

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19
Q

hipocratism digital stadiu 4

A

ingrosarea partii distale a degetului

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20
Q

hipocratism digital stadiu 5

A

aspect stralucitor si striat

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21
Q

pentru cine se face testul sudorii?

A

screening neonatal pozitiv, semne clinice, infertilitate B, frati/surori

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22
Q

Cand se face testul sudorii?

A

se face dupa 3 saptamani de viata si G>3kg

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23
Q

La ce valoare testul sudorii este pozitiv?

A

> 60mmol/l

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24
Q

Cand nu se face Testul Sudorii?

A

febra, deshidratare, fluide i.v, leziuni cutanate, corticoterapie, edeme

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25
Cine face testare genetica?
TS pozitiv semne clinice dar TS- fara semne clinice dar TS+ screening neonatal +
26
cum se face screening-ul neonatal?
IRT (tripsinogen imunoreactiv)
27
Cum se procedeaza daca screening ul e pozitiv?
are nevoie de confirmare prin testul sudorii
28
Care sunt cei mai frecventi agenti patogeni implicati in afectarea pulmonara?
SA, HI, PA
29
stadiu timpuriu afectare pulmonara
asimptomatic sau tuse seaca/wheezing, tahipnee
30
stadiu intermediar afectare pulmonara
tuse productiva, PEX
31
tratament stadiu timpuriu af pulm
fizioterapie respiratorie, mucolitici norme de igiena vaccinare antigripala inf bact
32
tratament stadiu intermediar af pulm
ATB antiinflamatori supraveghere
33
stadiu avansat af pulm
ABPA, atelectaza lobara, hemoptizie, pneumotorax, IR cronica
34
tratament stadiu avansat af pulm
tratamentul afectiunii specifice optimizarea tratamentului de fond intocmire dosar transplant pulmonar FEV1<30% din prezis
35
Manifestari clinice ABPA
-wheezing -constrictie toracica asthma like -febra si alterarea starii generale -sputa maronie/neagra cu consistenta crescuta
36
Criterii dg ABPA
-deteriorare clinica fara cauza identificata -IgE total seric >500kU/L (200-500 retestare dupa 1-3 luni) -prick test(cutanat) la Aspergillus -anticorpi anti AF IgG+ -anomalii rx recente:deget de manusa
37
tratament ABPA
corticosteroizi sistemici +/- antifungici (itraconazol)
38
cate semne din criteriile fuchs confirma PEX?
4/12
39
Criteriile FUCHS de PEX
-modif aspect sputa -hemoptizie noua/grad mare -creste frecv tusei sau modif caract -dispnee/accentuarea ei -modif starii generale, oboseala, letargie -febra>38 -anorexie, scadere ponderala -durere/sens la niv sinusurilor -modificari in ex fizic ap resp -scaderea fct pulmonare cu 10% sau > -modificari RX sugestive de inf pulm
40
Ce terapie inhalatorie se foloseste in afectarea pulmonara din FC?
-bronhodilatatori -clorura de Na hipertona -Pulmozyme -steroizi (la aia cu astm) -ATB
41
Ce mucolitice se folosesc?
-NaCl hiperton (RA:tuse, odinofagie) -Pulmozyme (RA: raguseala, eruptii cutanate) -Mannitol(Bronchitol)(RA:tuse)
42
Cu ce se trateaza primo-infectia SA/HI?
ATB oral 2-4 saptamani in doze mai mari decat uzuale
43
Cu ce se trateaza primo-infectia PA?
trat de URGENTA Tobramicina inhalator 4 sapt/ ATB orale
44
Cu ce se trateaza primo-infectia MRSA?
2 ATB orale: rifampicina+acid fusidic sau cotrimoxazol 2-4 sapt
45
cu ce se trateaza inf cronice de SA, HI?
atb termen lung oral co-amoxiclav in regim on/off
46
Cum se trateaza inf cronica cu PA?
ATB termen lung inhalator: -colistin/tobramicina on/off -colistin alternatic cu tobramicina se prefera ap de nebulizare e-flow/iNeb sau pulbere inhalatorie
47
Cu ce se asociaza PEX?
cu declinul functiei pulmonare
48
Cum se trateaza PEX?
ATB oral/inhalator/i.v 2 sapt combinatie de 2 ATB: cefalosporina de generatia a3a+aminoglicozid ANTIINFLAMATORI -azitromicina-induce rezistenta la SA, SP, Mycob; reducere eficacitatea TOBRAMICINEI; se face ECG inainte de initiere ptc prelungeste intervalul QTc -ibuprofen doza inalte -corticosteroizi inhalatori daca are astm sau oral/sistemic in ABPA, terminal care
49
in ce clase de mutatii apare insuficienta pancreatica exocrina?
la toti din clasele I-III si la 50% din clasele IV-V
50
cum se pune dg de insuficienta pancreatica exocrina?
analiza elastazei pancreatica in materii fecale >200microg/g
51
care este tratamentul pentru cei cu insuf pancreatica exocrina?
substitutie cu enzime pancreatice (PERT) sunt enzime derivate din pancreasul porcin
52
afectare hepatica din FC
NAFLD=non alcoholic fatty liver disease
53
cum apare ciroza hepatica din FC
apare prin obstructia ductelor biliare intrahepatice
54
cum se trateaza ciroza hepatica din FC?
acid ursodeoxicolic vaccinare anti hepatita A si B contraindicatie de AINS la fel ca orice ciroza hepatica, se poate ajunge la transplant
55
Sindromul pseudo-Barterr
este o alcaloza metabolica hipocloremica, hipopotasemica, hiponatremica pot apare convulsii
56
Cum se monitorizeaza la 3 luni?
examen clinic, functie pulmonara, culturi secretii pulmonare
57
cum se monitorizeaza anual?
imagistic (rx+ct) laborator eco abd test de toleranta la glucoza osteodensitometrie screening psihologic pletismografie
58
Care este tratamentul pentru cls III?
IVACAFTOR (Kalydeco)
59
la cine este CI Ivacaftorul?
la cei cu insuficienta hepatica severa
60
Care este tratamentul pentru homozigot F508del?
Iva+lumacaftor (orkambi)
61
Tratament homo/heterozigoti F508del
iva+tezacaftor+elexacaftor (potentiator+ 2 corectori)
62

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