Fibroza chistica

FIBROZA CHISTICA[MUCOVISCIDOZA]MIHAI CRAIU MD PhDIOMC

FIBROZA CHISTICAIntroducereTestul sudoriiIndicatiiTehnicaLimite / Surse de eroareAlternativeStudiul IOMCConcluziiA XXV-A CONFERIN NAIONAL ZILELE PEDIATRIEI IEENE N.N. TRIFANIAI, 25 - 27 OCTOMBRIE 2012

FIBROZA CHISTICA

Fibroza Chistica / Mucoviscidoza [ICD-10 E84, ICD-9 277.0, OMIM 219700]

cea mai frecventa afectiune monogenica autosomal recesiva, produsa de mutatii ale genei CFTR pe cromozomul 7

FIBROZA CHISTICA

Fibroza Chistica / Mucoviscidoza

Clasic este considerata cea mai frecventa afectiune monogenica autosomal recesiva cu evolutie grava, potential letala.

FIBROZA CHISTICAFibroza Chistica / Mucoviscidoza Speranta de viata in SUA a crescut in ultima decada de la 31 la 37 de ani*- Speranta de viata a unui pacient nascut acum in UK este de peste 50 de ani**

* Cystic Fibrosis Foundation Patients Registry, 2007 Annual Data Report, Bethesda, MD.** Dodge JA et al Cystic fibrosis mortality and survival in the UK: 1947-2003. Eur Respir J 2007;29(3):522-6.

FIBROZA CHISTICAGena CFTR Peste 1500 mutatii descriseFrecventa genei in populatie 1:25 *Prevalenta variabila 1:2100 [Australia] 1:2000-3000 [UE conform OMS] 1:4000-10.000 la hispanici in SUA 1:15.000-20.000 la afroamericani

*Ratjen F et al Cystic fibrosis. Lancet 2003;361;681-9

DEBUT NEONATAL

Ileus meconialIcter prelungit nnSDA hipocloremica

ASPECTE CLINICE IN PEDIATRIE

ASPECTE CLINICE IN PEDIATRIEMANIFESTARI LA PRESCOLAR1. DIGESTIVESDA [alcaloza hipoCl]Boala Diareica Cronica cu SteatoreeMiros fetidScaune voluminoaseScaune aderenteScaune decolorateAspect grasos la suprafata Faliment al cresterii

2. RESPIRATORIIInfectii respiratorii recurenteBronsiectaziiABPA [Aspergiloza alergica]HemoptiziePneumotoraxIR cu hippocratism HTP

AFECTIUNE PULMONARA CRONICA

Insuficienta resp crInfectii resp recurentBronsiectaziiPolipoza nazala [50%]Infectie rinosinusala cr

ASPECTE CLINICE LA ADULTI

MANIFESTARI DIGESTIVEInsuficienta pancreaticaMalabsorbtie de lipideOsteoporoza [D]S hemoragipar [K]Hemeralopie [A]Stress oxidativ [E] Obstructii ale tract GI


MANIFESTARI METABOLICE

Diabet *2% la copil19% la adolescent40-50% la adult

* Moran A et al Cystic fibrosis-related diabetes : current trends in prevalence and incidence. Diabetes Care 2009;32(9):1626-31.



Infertilitate Masculina [azoospermie prin atrezie a vas-deferens]Feminina exceptional de rara. De obicei N. Probleme la sarcina cu VEMS

CFTR CANAL DE CLOR

1989 pe cromozomul 7, CFTR> 1000 mutatii izolate, cel mai des f508

GENETICA IN F/C

Ion transport in airways: A defense mechanismKunzelmann K Impact of Ps aeruginosa infection on Na+-transport in airway epithelia, ERS

ALTERAREA CLEARANCE-ului MUCO-CILIAR IN F/C

Infectiile in F/Cla pacientii cu F/C cel mai frecvent apar infectii cu MSSA/MRSA sau Ps. aeruginosainfectia cronica cu Ps. aeruginosa produce boala pumonara obstructiva progresiva la pacientii cu F/C 1

1 Gibson RL et al State of the art: pathophysiology and management of pulmonary infections in cystic fibrosis. Am J Respir Crit Care Med 2003;168:918-951.

Cronologia infectiilor in F/CPier, ASM News 1998Se remarca predominenta Staf la varsta mica si inlocuirea acestuia cu Ps a la adolescent/adult

Cronologia infectiilor in F/C

persistenta infectiei cu Ps. aeruginosa este asociata cu aparitia tulpinilor de tip mucoid si cu deteriorarea accelerata a functiei pulmonare 1

1 Li Z et al Longitudinal development of mucoid Pseudomonas aeruginosa infection and lung disease progression in children with cystic fibrosis. JAMA 2005;293:581-8.

PS. A - TULPINI DE TIP MUCOIDZV 16 ani, colonizat cronic cu Pseudomonas aeruginosa cu permisiunea biol. Cana D, dr. Leu D laborator bacteriologie IOMC A. Rusescu

TESTUL SUDORII

Constituie Testul sudorii o problematica de interes in literatura de specialitate?

DIAGNOSTICUL DE FIBROZA CHISTICA :Statement ConsensusUNA sau MAI MULTE aspecte fenotipice caracteristice

si/sau

istoric de CF la frati

si/sau

test screening neonatal pozitivTest al sudorii pozitiv

si/sau

Identificarea a 2mutatii ale CFTR

si/sau

Transport ionic anormal la nivelul muc. nazale+CF= Rosenstein BJ et al. J. Pediatr 1998; 132: 589-95

ISTORICLegende scandinave (blestemul lui Thor)

Dorothy H Andersen Cystic fibrosis of the pancreas and its relation with celiac disease: a clinical and pathological study. Am J Dis Child 1938;56:344-99.

ISTORIC

Testul sudorii prin IONTOFOREZA PILOCARPINICA (Gibson si Cook, 1959)

Standard de Aur din 1995

INDICATIIScreening neonat+ [tripsinogen imunoreactiv]Pacient cu semne clinice evocatorii de FCNn cu ileus meconialCopil cu faliment al cresterii, BDC, inf resp cr, hippocratism, infectii resp recurente cu Ps aerugAdulti cu sterilitate masculina prin atrezie VDPacienti cu frati avand FC sau mutatii ale genei CFTR

TEHNICA

Masuratoare a concentratiei de Cl- sudoralPOZITIV clor sudoral >60 mmol/L INTERMEDIAR [30-59 la sugar, 40-59 mai mari]Masuratoare a concentratiei de Na+ sudoralAproape aceeasi valoare ca si Cl [diferenta este de 2.6 mmol/L cu o dev standard de 4.4]*

* Coakley J et al Australian Guidelines for the performance of sweat Test for the diagnosis of the Cystic Fibrosis. Clin Biochem Rev 2006;27(SupplI):S1-S7

TEHNICA

Masuratoare a conductivitatii sudorale cu ajutorul micrometodelor Wescor Nanoduct sau MacroductValoarea obtinuta este cu ~15 mmol/L mai mare decat Cl- deoarece in compozitia sudorii mai exista si alti ioni in afara de Na si Cl.Desi este precisa, conform ghidurilor in vigoare metoda poate fi folosita DOAR pt screening !Masuratoare a osmolalitatii sudoraleNu este acceptata ca test pentru dg FC

CINE POATE FACE TESTUL?

Practic toti sugarii cu varsta >3saptamani si avand >3kgEste contraindicat in primele 2 zile de viata deoarece in aceasta perioada este posibil sa nu transpire destul iar Cl poate fi deseori >70mmol/L chiar si la normali.

PREGATIREA PACIENTULUIPentru efectuarea TS este bine sa se obtina acordul informat.Parintii trebuiesc informati despre riscurile minore ale tehniciiInrosirea pieliiExceptional de rar arsuri locale cu veziculePentru aceasta ar fi utila folosirea unor fact sheets

STIMULAREA PRIN PILOCARPINAVor fi folosite doar echipamente standardizateAcestea aplica un curent cu o valoare extrem de mica [se creste progresiv valoarea pana la maximum 4 mA]Durata aplicarii curentului la aceasta valoare constanta este de cel putin 5 min.

STIMULAREA PRIN PILOCARPINAVor fi folosite pentru aplicarea electrozilor fetele de extensie ale antebratelor.Aici tegumentul trebuie sa fie intact, fara leziuni, edeme sau exema. Exceptional se accepta aplicarea electrozilor in alte zoneBratCoapsaGamba

STIMULAREA PRIN PILOCARPINA

Vor fi folositi electrozi cu dimensiuni adecvate regiunii explorateAcestia vor fi imbracati cu un strat generos de tifon [gen comprese sterile]Compresele vor acoperi bine marginile electrozilor astfel incat acestia sa nu atinga deloc pielea, in mod direct

STIMULAREA PRIN PILOCARPINAElectrozii vor fi innmuiati in solutie de nitrat de Pilocarpina cu o concentratie de 0.2-0.5%Ambii sau doar unul.Celalalt poate fi imbibat in sulfat de magneziu 0.05-2 mol/L sau sulfat de potasiu 1%.La operatorii neexperim trebuie evitata folosirea NaCl pentru a scadea riscul de contaminare a sudorii astfel obtinute.

RECOLTAREA SUDORII DUPA STIMULAREDupa stimulare de asteapta: minimum 20 minuteMaximum 30 minuteRecoltarea sudorii se poate face cu ajutorul:Hartiei de filtru Compreselor spalate cu apa distilataColector Wescor

CANTARIRE

Pentru metoda Gibson-Cooke se foloseste in vederea cantaririi o balanta analitica, tot timpul aceeasi, avand o precizie de 0.0001 g

CANTITATE

Ritmul sudoral ar trebui sa nu fie mai mic de 1g/m2/minPentru metoda Gibson-Cooke cantitatea minima pentru masuratoare este 0.075 gPentru metoda Macroduct Wescor cantitatea minima pentru masuratoare este de 15L

DACA NU A TRANSPIRAT?

In cazul unui esec poate fi folosit antebratul opus, in aceeasi zi.

Un nou esec impune reprogramare.

METODE DE ANALIZA A SUDORIIPentru analiza Clorului sudoral pot fi folositeColorimetria [titrimetric sau spectrofotometric], culometrie [cloridometru] sau electrodul selectiv de ioniPentru analiza Sodiului sudoral pot fi folositeFlamfotometria, spectrofotometria prin absorbtie de masa sau electrodul selectiv de ioni

REZULTATE FALS-POZITIVEPot sa apara in:Dermatita atopica [eczema]AtrepsieSindromul adrenogenital congenitalSindr MauriacFucozidozaSindr KlinefelterDiabet insipid nefrogenPot sa apara in:Insuficienta adrenalaHipotiroidismDisfunctie autonoma [sindr Railey-Day]Displazia ectodernalaDeprivare emotionala si ambientalaSindr Munchausen-by-proxy

REZULTATE FALS-NEGATIVEPot sa apara in:Dilutia accidentala a probeiMalnutritieEdeme perifericeCantitatea prea mica de sudoareHipoproteinemieSDAMutatii CFTR cu functie pastrata [3849+10kbCT, R117H-7T]

EXPERIENTA SI TRAINING

Antrenamentul periodic este singura modalitate de a mentine acuratetea determinarilorEste imperios efectuarea unui numar minim de 10 teste pe anIdeal ar fi 100 pe an

ALTERNATIVE

STUDIUL IOMCINTRODUCERETestul sudorii [iontoforeza pilocarpinica] reprezinta standardul de aur in diagnosticul Fibrozei chistice. Metoda este relativ simpla, rapida, reproductibila si precisa. Din aceste ratiuni orice suspiciune clinica sau anamnestica de potentiala fibroza chistica poate fi explorata cu ajutorul iontoforezei pilocarpinice.

STUDIUL IOMCOBIECTIVEAnaliza caracteristicilor clinice si demografice identificate de catre medicul pediatru sau pneumolog pediatru pentru a recomanda efectuarea iontoforezei pilocarpinice la copil si adolescent / adult tanar.

STUDIUL IOMCMATERIAL SI METODAAnaliza A baza datelor demografice si ai celor 14 parametri urmariti prin chestionarul ce insoteste solicitarea determinarii clorului sudoral. Acesti parametri sunt: prezenta ileusului meconial, a sindromului de bila groasa, a diareei cronice, a infectiilor pulmonare repetate, a falimentului cresterii, a hemoptiziei, a polipozei nazale, a sinuzitei cronice, a edemelor, a hipoprotrombinemiei, a socului caloric, al prolapsului rectal, al gustului sarat al sudorii si al altor elemente.

STUDIUL IOMCREZULTATEIn cadrul subprogramului 15/4 Fibroza chistica in cursul a 12 luni [anii 2010-2011] au fost efectuate la cabinetul de Genetica al IOMC Alfred Rusescu din Bucuresti [centru regional de F/C] un numar de 356 de determinari.Din acestea 10 au fost pozitive [2.81%]

1. VARIA 2. BDC 3. FALIMENT CRESTERE 4. INFECTII RESP RECURENTE

Chart1

111

137

96

24

PRINCIPALELE CAUZE DE INDICARE A TS

Sheet1

FRR0.5686.4-1.60.2

FCR3.511.3-40.28

MCU0.5574.6-20.33

MCU0.1513.2500

MCU2767.2-30.25

FCU1.2736.8-30.33

FCR3.510012-30.25

FCR0.7606.1-1.50.2

FCU0.5636.1-10.15

MCR0.3563.8-1.20.25

MCU0.16563.8-0.70.15

MCU0.45646-0.50.1

MRR0.8635.5-30.33

MC2869.3-30.25

MCR59511-90.45

FCR0.25563.5-20.3

FCU39011-40.23

FRU0.25543.7-1.50.28

FCU1736.8-2.50.3

MCU16.7-2.50.3

MCU0.9727.2-1.50.18

MCR59712-80.45

MCR0.4625.4-10.16

MCR8

FCU2747.8-40.33

FCR1

FCU39212-30.2

FCR814.5-110.4

MCR2.58610.9-20.15

MCR0.183.3-10.25

FCR1.57.8-30.33

MCU2.511-20.15

MCR2.28510.4-20.15

FCU0.75656.7-1.50.2

FCU0.6716.4-10.15

MCR0.1513.1-0.50.15

MCU1.5717-3.50.33

FRU0.551.53.1-40.6

FCU0.75686.3-20.25

FCU5.511014-60.33

FCR29.9-2.10.15

FCR2.57.8-4.20.33111

MCR0.253.1-30.5POZITIV137

FCU0.33553.5-2.50.496

MCU0.75615.5-2.50.324

FCU2.5909.6-30.22

FCR8610.5

FU59411.2-80.4

FCU2.5737.5-50.3

MCU0.758-0.50.1

MCU0.5696.6-0.40.06

MCR4.7510013.8-5.50.3BD REP

MCU3.510013-40.25

FCR0.15564-0.50.12

MCR0.1512.8-1.70.35

FCR1.3787.4-30.33

FCU0.5615.4-1.60.25

FArabR543.8

FCU1.3788.5-20.2

FCU4.2510113-4.50.25

FRR0.25493-2.30.43

FCR4.510112.5-6.50.36

FCU2.158612-10.08BD REP

FCR1.6798.2-2.50.23B RESP REP

FCR1012924-60.2

FCR0.5676.5-10.13

MCR0.25524.4-0.50.12

FCU2.1511.5-10.08

FCU0.12543.7-10.28

MCU0.25635.5-0.50.08

Sheet1


Sheet2

Sheet3

BOALA DIAREICA CRONICA

96 cazuri

51 B [53.126%]

45 F [46.874%]10ANI [BLEU]

Chart2

28

58

6

4

DISTRIBUTIA PE GRUPE DE VARSTA

Sheet1

FRR0.5686.4-1.60.2

FCR3.511.3-40.28

MCU0.5574.6-20.33

MCU0.1513.2500

MCU2767.2-30.25

FCU1.2736.8-30.33

FCR3.510012-30.25

FCR0.7606.1-1.50.2

FCU0.5636.1-10.15

MCR0.3563.8-1.20.25

MCU0.16563.8-0.70.15

MCU0.45646-0.50.1

MRR0.8635.5-30.33

MC2869.3-30.25

MCR59511-90.45

FCR0.25563.5-20.3

FCU39011-40.23

FRU0.25543.7-1.50.28

FCU1736.8-2.50.3

MCU16.7-2.50.3

MCU0.9727.2-1.50.18

MCR59712-80.45

MCR0.4625.4-10.16

MCR8

FCU2747.8-40.33

FCR1

FCU39212-30.2

FCR814.5-110.4

MCR2.58610.9-20.15

MCR0.183.3-10.25

FCR1.57.8-30.33

MCU2.511-20.15

MCR2.28510.4-20.15

FCU0.75656.7-1.50.2

FCU0.6716.4-10.15

MCR0.1513.1-0.50.15

MCU1.5717-3.50.33

FRU0.551.53.1-40.6

FCU0.75686.3-20.25

FCU5.511014-60.33

FCR29.9-2.10.15

FCR2.57.8-4.20.3311128

MCR0.253.1-30.5POZITIV13758

FCU0.33553.5-2.50.4966

MCU0.75615.5-2.50.3244

FCU2.5909.6-30.22

FCR8610.5

FU59411.2-80.4

FCU2.5737.5-50.3

MCU0.758-0.50.1

MCU0.5696.6-0.40.06

MCR4.7510013.8-5.50.3BD REP

MCU3.510013-40.25

FCR0.15564-0.50.12

MCR0.1512.8-1.70.35

FCR1.3787.4-30.33

FCU0.5615.4-1.60.25

FArabR543.8

FCU1.3788.5-20.2

FCU4.2510113-4.50.25

FRR0.25493-2.30.43

FCR4.510112.5-6.50.36

FCU2.158612-10.08BD REP

FCR1.6798.2-2.50.23B RESP REP

FCR1012924-60.2

FCR0.5676.5-10.13

MCR0.25524.4-0.50.12

FCU2.1511.5-10.08

FCU0.12543.7-10.28

MCU0.25635.5-0.50.08

Sheet1


Sheet2


Sheet3

BOALA RESPIRATORIE CRONICA

137 cazuri

74 baieti [54.015%]

63 fete [45.985%] 10ANI [BLEU]

Chart3

44

63

22

8


Sheet1

FRR0.5686.4-1.60.2

FCR3.511.3-40.28

MCU0.5574.6-20.33

MCU0.1513.2500

MCU2767.2-30.25

FCU1.2736.8-30.33

FCR3.510012-30.25

FCR0.7606.1-1.50.2

FCU0.5636.1-10.15

MCR0.3563.8-1.20.25

MCU0.16563.8-0.70.15

MCU0.45646-0.50.1

MRR0.8635.5-30.33

MC2869.3-30.25

MCR59511-90.45

FCR0.25563.5-20.3

FCU39011-40.23

FRU0.25543.7-1.50.28

FCU1736.8-2.50.3

MCU16.7-2.50.3

MCU0.9727.2-1.50.18

MCR59712-80.45

MCR0.4625.4-10.16

MCR8

FCU2747.8-40.33

FCR1

FCU39212-30.2

FCR814.5-110.4

MCR2.58610.9-20.15

MCR0.183.3-10.25

FCR1.57.8-30.33

MCU2.511-20.15

MCR2.28510.4-20.15

FCU0.75656.7-1.50.2

FCU0.6716.4-10.15

MCR0.1513.1-0.50.15

MCU1.5717-3.50.33

FRU0.551.53.1-40.6

FCU0.75686.3-20.25

FCU5.511014-60.33

FCR29.9-2.10.15

FCR2.57.8-4.20.331112844

MCR0.253.1-30.5POZITIV1375863

FCU0.33553.5-2.50.496622

MCU0.75615.5-2.50.32448

FCU2.5909.6-30.22

FCR8610.5

FU59411.2-80.4

FCU2.5737.5-50.3

MCU0.758-0.50.1

MCU0.5696.6-0.40.06

MCR4.7510013.8-5.50.3BD REP

MCU3.510013-40.25

FCR0.15564-0.50.12

MCR0.1512.8-1.70.35

FCR1.3787.4-30.33

FCU0.5615.4-1.60.25

FArabR543.8

FCU1.3788.5-20.2

FCU4.2510113-4.50.25

FRR0.25493-2.30.43

FCR4.510112.5-6.50.36

FCU2.158612-10.08BD REP

FCR1.6798.2-2.50.23B RESP REP

FCR1012924-60.2

FCR0.5676.5-10.13

MCR0.25524.4-0.50.12

FCU2.1511.5-10.08

FCU0.12543.7-10.28

MCU0.25635.5-0.50.08

Sheet1


Sheet2


Sheet3


FALIMENTUL CRESTERII

111 cazuri

59 baieti [53.153%]

52 fete [46.847%]

Chart5

6.4

11.3

4.6

3.25

7.2

6.8

12

6.1

6.1

3.8

3.8

6

5.5

9.3

11

3.5

11

3.7

6.8

6.7

7.2

12

5.4

7.8

12

14.5

10.9

3.3

7.8

11

10.4

6.7

6.4

3.1

7

3.1

6.3

14

9.9

7.8

3.1

3.5

5.5

9.6

10.5

11.2

7.5

8

6.6

13.8

13

4

2.8

7.4

5.4

3.8

8.5

13

3

12.5

12

8.2

24

6.5

4.4

11.5

3.7

5.5

DISTRIBUTIA GREUTATII

Sheet1

FRR0.5686.4-1.60.2

FCR3.511.3-40.28

MCU0.5574.6-20.33

MCU0.1513.2500

MCU2767.2-30.25

FCU1.2736.8-30.33

FCR3.510012-30.25

FCR0.7606.1-1.50.2

FCU0.5636.1-10.15

MCR0.3563.8-1.20.25

MCU0.16563.8-0.70.15

MCU0.45646-0.50.1

MRR0.8635.5-30.33

MC2869.3-30.25

MCR59511-90.45

FCR0.25563.5-20.3

FCU39011-40.23

FRU0.25543.7-1.50.28

FCU1736.8-2.50.3

MCU16.7-2.50.3

MCU0.9727.2-1.50.18

MCR59712-80.45

MCR0.4625.4-10.16

MCR8

FCU2747.8-40.33

FCR1

FCU39212-30.2

FCR814.5-110.4

MCR2.58610.9-20.15

MCR0.183.3-10.25

FCR1.57.8-30.33

MCU2.511-20.15

MCR2.28510.4-20.15

FCU0.75656.7-1.50.2

FCU0.6716.4-10.15

MCR0.1513.1-0.50.15

MCU1.5717-3.50.33

FRU0.551.53.1-40.6

FCU0.75686.3-20.25

FCU5.511014-60.33

FCR29.9-2.10.15

FCR2.57.8-4.20.331112844

MCR0.253.1-30.5POZITIV1375863

FCU0.33553.5-2.50.496622

MCU0.75615.5-2.50.32448

FCU2.5909.6-30.22

FCR8610.5

FU59411.2-80.4

FCU2.5737.5-50.3

MCU0.758-0.50.1

MCU0.5696.6-0.40.06

MCR4.7510013.8-5.50.3BD REP

MCU3.510013-40.25

FCR0.15564-0.50.12

MCR0.1512.8-1.70.35

FCR1.3787.4-30.33

FCU0.5615.4-1.60.25

FArabR543.8

FCU1.3788.5-20.2

FCU4.2510113-4.50.25

FRR0.25493-2.30.43

FCR4.510112.5-6.50.36

FCU2.158612-10.08BD REP

FCR1.6798.2-2.50.23B RESP REP

FCR1012924-60.2

FCR0.5676.5-10.13

MCR0.25524.4-0.50.12

FCU2.1511.5-10.08

FCU0.12543.7-10.28

MCU0.25635.5-0.50.08

Sheet1


Sheet2


Sheet3


DISTRIBUTIA TALIEI


Chart4

68

57

51

76

73

100

60

63

56

56

64

63

86

95

56

90

54

73

72

97

62

74

92

86

85

65

71

51

71

51.5

68

110

55

61

90

86

94

73

69

100

100

56

51

78

61

54

78

101

49

101

86

79

129

67

52

54

63

DISTRIBUTIA TALIEI

Sheet1

FRR0.5686.4-1.60.2

FCR3.511.3-40.28

MCU0.5574.6-20.33

MCU0.1513.2500

MCU2767.2-30.25

FCU1.2736.8-30.33

FCR3.510012-30.25

FCR0.7606.1-1.50.2

FCU0.5636.1-10.15

MCR0.3563.8-1.20.25

MCU0.16563.8-0.70.15

MCU0.45646-0.50.1

MRR0.8635.5-30.33

MC2869.3-30.25

MCR59511-90.45

FCR0.25563.5-20.3

FCU39011-40.23

FRU0.25543.7-1.50.28

FCU1736.8-2.50.3

MCU16.7-2.50.3

MCU0.9727.2-1.50.18

MCR59712-80.45

MCR0.4625.4-10.16

MCR8

FCU2747.8-40.33

FCR1

FCU39212-30.2

FCR814.5-110.4

MCR2.58610.9-20.15

MCR0.183.3-10.25

FCR1.57.8-30.33

MCU2.511-20.15

MCR2.28510.4-20.15

FCU0.75656.7-1.50.2

FCU0.6716.4-10.15

MCR0.1513.1-0.50.15

MCU1.5717-3.50.33

FRU0.551.53.1-40.6

FCU0.75686.3-20.25

FCU5.511014-60.33

FCR29.9-2.10.15

FCR2.57.8-4.20.331112844

MCR0.253.1-30.5POZITIV1375863

FCU0.33553.5-2.50.496622

MCU0.75615.5-2.50.32448

FCU2.5909.6-30.22

FCR8610.5

FU59411.2-80.4

FCU2.5737.5-50.3

MCU0.758-0.50.1

MCU0.5696.6-0.40.06

MCR4.7510013.8-5.50.3BD REP

MCU3.510013-40.25

FCR0.15564-0.50.12

MCR0.1512.8-1.70.35

FCR1.3787.4-30.33

FCU0.5615.4-1.60.25

FArabR543.8

FCU1.3788.5-20.2

FCU4.2510113-4.50.25

FRR0.25493-2.30.43

FCR4.510112.5-6.50.36

FCU2.158612-10.08BD REP

FCR1.6798.2-2.50.23B RESP REP

FCR1012924-60.2

FCR0.5676.5-10.13

MCR0.25524.4-0.50.12

FCU2.1511.5-10.08

FCU0.12543.7-10.28

MCU0.25635.5-0.50.08

Sheet1


Sheet2


Sheet3


DISTRIBUTIA TALIEI

Chart6

-1.6

-4

-2

0

-3

-3

-3

-1.5

-1

-1.2

-0.7

-0.5

-3

-3

-9

-2

-4

-1.5

-2.5

-2.5

-1.5

-8

-1

-4

-3

-11

-2

-1

-3

-2

-2

-1.5

-1

-0.5

-3.5

-4

-2

-6

-2.1

-4.2

-3

-2.5

-2.5

-3

-8

-5

-0.5

-0.4

-5.5

-4

-0.5

-1.7

-3

-1.6

-2

-4.5

-2.3

-6.5

-1

-2.5

-6

-1

-0.5

-1

-1

-0.5

DISTRIBUTIA DEFICITULUI PONDERAL

Sheet1

FRR0.5686.4-1.60.2

FCR3.511.3-40.28

MCU0.5574.6-20.33

MCU0.1513.2500

MCU2767.2-30.25

FCU1.2736.8-30.33

FCR3.510012-30.25

FCR0.7606.1-1.50.2

FCU0.5636.1-10.15

MCR0.3563.8-1.20.25

MCU0.16563.8-0.70.15

MCU0.45646-0.50.1

MRR0.8635.5-30.33

MC2869.3-30.25

MCR59511-90.45

FCR0.25563.5-20.3

FCU39011-40.23

FRU0.25543.7-1.50.28

FCU1736.8-2.50.3

MCU16.7-2.50.3

MCU0.9727.2-1.50.18

MCR59712-80.45

MCR0.4625.4-10.16

MCR8

FCU2747.8-40.33

FCR1

FCU39212-30.2

FCR814.5-110.4

MCR2.58610.9-20.15

MCR0.183.3-10.25

FCR1.57.8-30.33

MCU2.511-20.15

MCR2.28510.4-20.15

FCU0.75656.7-1.50.2

FCU0.6716.4-10.15

MCR0.1513.1-0.50.15

MCU1.5717-3.50.33

FRU0.551.53.1-40.6

FCU0.75686.3-20.25

FCU5.511014-60.33

FCR29.9-2.10.15

FCR2.57.8-4.20.331112844

MCR0.253.1-30.5POZITIV1375863

FCU0.33553.5-2.50.496622

MCU0.75615.5-2.50.32448

FCU2.5909.6-30.22

FCR8610.5

FU59411.2-80.4

FCU2.5737.5-50.3

MCU0.758-0.50.1

MCU0.5696.6-0.40.06

MCR4.7510013.8-5.50.3BD REP

MCU3.510013-40.25

FCR0.15564-0.50.12

MCR0.1512.8-1.70.35

FCR1.3787.4-30.33

FCU0.5615.4-1.60.25

FArabR543.8

FCU1.3788.5-20.2

FCU4.2510113-4.50.25

FRR0.25493-2.30.43

FCR4.510112.5-6.50.36

FCU2.158612-10.08BD REP

FCR1.6798.2-2.50.23B RESP REP

FCR1012924-60.2

FCR0.5676.5-10.13

MCR0.25524.4-0.50.12

FCU2.1511.5-10.08

FCU0.12543.7-10.28

MCU0.25635.5-0.50.08

Sheet1


Sheet2


Sheet3


DISTRIBUTIA TALIEI



Chart7

0.2

0.28

0.33

0

0.25

0.33

0.25

0.2

0.15

0.25

0.15

0.1

0.33

0.25

0.45

0.3

0.23

0.28

0.3

0.3

0.18

0.45

0.16

0.33

0.2

0.4

0.15

0.25

0.33

0.15

0.15

0.2

0.15

0.15

0.33

0.6

0.25

0.33

0.15

0.33

0.5

0.4

0.3

0.22

0.4

0.3

0.1

0.06

0.3

0.25

0.12

0.35

0.33

0.25

0.2

0.25

0.43

0.36

0.08

0.23

0.2

0.13

0.12

0.08

0.28

0.08

DISTRIBUTIA PROCENTUALA A PIERDERII PONDERALE

Sheet1

FRR0.5686.4-1.60.2

FCR3.511.3-40.28

MCU0.5574.6-20.33

MCU0.1513.2500

MCU2767.2-30.25

FCU1.2736.8-30.33

FCR3.510012-30.25

FCR0.7606.1-1.50.2

FCU0.5636.1-10.15

MCR0.3563.8-1.20.25

MCU0.16563.8-0.70.15

MCU0.45646-0.50.1

MRR0.8635.5-30.33

MC2869.3-30.25

MCR59511-90.45

FCR0.25563.5-20.3

FCU39011-40.23

FRU0.25543.7-1.50.28

FCU1736.8-2.50.3

MCU16.7-2.50.3

MCU0.9727.2-1.50.18

MCR59712-80.45

MCR0.4625.4-10.16

MCR8

FCU2747.8-40.33

FCR1

FCU39212-30.2

FCR814.5-110.4

MCR2.58610.9-20.15

MCR0.183.3-10.25

FCR1.57.8-30.33

MCU2.511-20.15

MCR2.28510.4-20.15

FCU0.75656.7-1.50.2

FCU0.6716.4-10.15

MCR0.1513.1-0.50.15

MCU1.5717-3.50.33

FRU0.551.53.1-40.6

FCU0.75686.3-20.25

FCU5.511014-60.33

FCR29.9-2.10.15

FCR2.57.8-4.20.331112844

MCR0.253.1-30.5POZITIV1375863

FCU0.33553.5-2.50.496622

MCU0.75615.5-2.50.32448

FCU2.5909.6-30.22

FCR8610.5

FU59411.2-80.4

FCU2.5737.5-50.3

MCU0.758-0.50.1

MCU0.5696.6-0.40.06

MCR4.7510013.8-5.50.3BD REP

MCU3.510013-40.25

FCR0.15564-0.50.12

MCR0.1512.8-1.70.35

FCR1.3787.4-30.33

FCU0.5615.4-1.60.25

FArabR543.8

FCU1.3788.5-20.2

FCU4.2510113-4.50.25

FRR0.25493-2.30.43

FCR4.510112.5-6.50.36

FCU2.158612-10.08BD REP

FCR1.6798.2-2.50.23B RESP REP

FCR1012924-60.2

FCR0.5676.5-10.13

MCR0.25524.4-0.50.12

FCU2.1511.5-10.08

FCU0.12543.7-10.28

MCU0.25635.5-0.50.08

Sheet1


Sheet2


Sheet3


DISTRIBUTIA TALIEI



DISTRIBUTIA PROCENTUALA A PIERDERII PONDERALE

VARIA

24 cazuri

15 baieti [62.5%]

9 fete [37.5%]

16 copii au gust sarat

3 copii au displazie ectodermala [cu transpiratie putina/abs

5 altele [2 insuf pancreatica, 2 prolaps rectal, 1 hepat cr de etiologie non-virala]

TratamentPe cale inhalat se folosesc Tobramicina [Tobi], Aztreonam si Colistinmedicatia inhalatorie cu antibiotice la pacientii cu F/C are un rol terapeutic majorin prevenirea infectei pulmonare cronice cu Ps. Aeruginosain diminuara raspunsului inflamatorin ameliorarea citirii mutatiilor CFTR (stop-mutations)in preventia pierderii functiei pulm

TratamentEFECTELE ACESTORA POT FI POTENTATE DE fizioterapieAlfa-Dornaza (Pulmozyme)Antibiotice SistemiceCiprofloxacina poantipseudomonazice iv (Ceftazidim, Carbapeneme, Comb. cu Tazobactam, Aztreonam, Aminoglicozide, Colistin)

CONCLUZII

Testul sudorii [iontoforeza pilocarpinica] reprezinta standardul de aur in diagnosticul Fibrozei chistice.

Metoda este relativ simpla, rapida, reproductibila si precisa.

CONCLUZII

Din aceste ratiuni orice suspiciune clinica sau anamnestica de potentiala fibroza chistica [BDC, falimentul cresterii, boala respiratorie cronica, manifestari neonatale neobisnuite icter meconial, prolaps rectal, icter prelungit; alcaloza hipocloremica, soc de caldura cu SDA severa poate fi explorata cu ajutorul iontoforezei pilocarpinice.

MULTUMESC!

Tissue damaging responseMacrophaeg-activating responseNecrose op zich weer groeiremmendNecrose lijkt op kaas: verkazende necroseMacrofagen stimuleren T-lymfocyten, release van cytokines, bepalen deels klachtenpatroon en kunnen ziekte onderhouden door onderdrukken afweer (IL-10) (IL1-koorts,TNF- alfa: koorts en gewichtsverlies, niet endo- of exotoxinesScade mn door afweer, minder door MB zelf Tuberkel = granuloom = gectiveerde macrofagen(reuscellen, epitheloidcellen) en lymphocyten.

Humorale afweer een rol --> antilichamen geen rol bij diagnostiek, evenmin bij vaccin Primaire infectie kan ook centrale necrose en cavitatie geven, doch veel minder frequent dan PPT

Fibroza chistica

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