fibroza chistica
DESCRIPTION
medTRANSCRIPT
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FIBROZA CHISTICA[MUCOVISCIDOZA]MIHAI CRAIU MD PhDIOMC
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FIBROZA CHISTICAIntroducereTestul sudoriiIndicatiiTehnicaLimite / Surse de eroareAlternativeStudiul IOMCConcluziiA XXV-A CONFERIN NAIONAL ZILELE PEDIATRIEI IEENE N.N. TRIFANIAI, 25 - 27 OCTOMBRIE 2012
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FIBROZA CHISTICAIntroducereTestul sudoriiIndicatiiTehnicaLimite / Surse de eroareAlternativeStudiul IOMCConcluziiA XXV-A CONFERIN NAIONAL ZILELE PEDIATRIEI IEENE N.N. TRIFANIAI, 25 - 27 OCTOMBRIE 2012
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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
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FIBROZA CHISTICA
Fibroza Chistica / Mucoviscidoza
Clasic este considerata cea mai frecventa afectiune monogenica autosomal recesiva cu evolutie grava, potential letala.
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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.
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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
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DEBUT NEONATAL
Ileus meconialIcter prelungit nnSDA hipocloremica
ASPECTE CLINICE IN PEDIATRIE
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ASPECTE CLINICE IN PEDIATRIEMANIFESTARI LA PRESCOLAR1. DIGESTIVESDA [alcaloza hipoCl]Boala Diareica Cronica cu SteatoreeMiros fetidScaune voluminoaseScaune aderenteScaune decolorateAspect grasos la suprafata Faliment al cresterii
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2. RESPIRATORIIInfectii respiratorii recurenteBronsiectaziiABPA [Aspergiloza alergica]HemoptiziePneumotoraxIR cu hippocratism HTP
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AFECTIUNE PULMONARA CRONICA
Insuficienta resp crInfectii resp recurentBronsiectaziiPolipoza nazala [50%]Infectie rinosinusala cr
ASPECTE CLINICE LA ADULTI
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MANIFESTARI DIGESTIVEInsuficienta pancreaticaMalabsorbtie de lipideOsteoporoza [D]S hemoragipar [K]Hemeralopie [A]Stress oxidativ [E] Obstructii ale tract GI
ASPECTE CLINICE LA ADULTI
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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.
ASPECTE CLINICE LA ADULTI
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ASPECTE CLINICE LA ADULTI
Infertilitate Masculina [azoospermie prin atrezie a vas-deferens]Feminina exceptional de rara. De obicei N. Probleme la sarcina cu VEMS
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CFTR CANAL DE CLOR
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1989 pe cromozomul 7, CFTR> 1000 mutatii izolate, cel mai des f508
GENETICA IN F/C
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Ion transport in airways: A defense mechanismKunzelmann K Impact of Ps aeruginosa infection on Na+-transport in airway epithelia, ERS
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ALTERAREA CLEARANCE-ului MUCO-CILIAR IN F/C
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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.
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Cronologia infectiilor in F/CPier, ASM News 1998Se remarca predominenta Staf la varsta mica si inlocuirea acestuia cu Ps a la adolescent/adult
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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.
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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
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FIBROZA CHISTICAIntroducereTestul sudoriiIndicatiiTehnicaLimite / Surse de eroareAlternativeStudiul IOMCConcluziiA XXV-A CONFERIN NAIONAL ZILELE PEDIATRIEI IEENE N.N. TRIFANIAI, 25 - 27 OCTOMBRIE 2012
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TESTUL SUDORII
Constituie Testul sudorii o problematica de interes in literatura de specialitate?
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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
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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.
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ISTORIC
Testul sudorii prin IONTOFOREZA PILOCARPINICA (Gibson si Cook, 1959)
Standard de Aur din 1995
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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
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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
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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
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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.
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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
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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.
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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
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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
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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.
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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
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CANTARIRE
Pentru metoda Gibson-Cooke se foloseste in vederea cantaririi o balanta analitica, tot timpul aceeasi, avand o precizie de 0.0001 g
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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
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DACA NU A TRANSPIRAT?
In cazul unui esec poate fi folosit antebratul opus, in aceeasi zi.
Un nou esec impune reprogramare.
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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
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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
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REZULTATE FALS-NEGATIVEPot sa apara in:Dilutia accidentala a probeiMalnutritieEdeme perifericeCantitatea prea mica de sudoareHipoproteinemieSDAMutatii CFTR cu functie pastrata [3849+10kbCT, R117H-7T]
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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
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ALTERNATIVE
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FIBROZA CHISTICAIntroducereTestul sudoriiIndicatiiTehnicaLimite / Surse de eroareAlternativeStudiul IOMCConcluziiA XXV-A CONFERIN NAIONAL ZILELE PEDIATRIEI IEENE N.N. TRIFANIAI, 25 - 27 OCTOMBRIE 2012
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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.
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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.
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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.
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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%]
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1. VARIA 2. BDC 3. FALIMENT CRESTERE 4. INFECTII RESP RECURENTE
Chart1
111
137
96
24
PRINCIPALELE CAUZE DE INDICARE A TS
Sheet1
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MCR0.253.1-30.5POZITIV137
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FCR8610.5
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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
PRINCIPALELE CAUZE DE INDICARE A TS
Sheet2
Sheet3
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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
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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
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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
PRINCIPALELE CAUZE DE INDICARE A TS
Sheet2
DISTRIBUTIA PE GRUPE DE VARSTA
Sheet3
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BOALA RESPIRATORIE CRONICA
137 cazuri
74 baieti [54.015%]
63 fete [45.985%] 10ANI [BLEU]
Chart3
44
63
22
8
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
FCR2.57.8-4.20.331112844
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
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MCU3.510013-40.25
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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
PRINCIPALELE CAUZE DE INDICARE A TS
Sheet2
DISTRIBUTIA PE GRUPE DE VARSTA
Sheet3
DISTRIBUTIA PE GRUPE DE VARSTA
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FALIMENTUL CRESTERII
111 cazuri
59 baieti [53.153%]
52 fete [46.847%]
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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
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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
PRINCIPALELE CAUZE DE INDICARE A TS
Sheet2
DISTRIBUTIA PE GRUPE DE VARSTA
Sheet3
DISTRIBUTIA PE GRUPE DE VARSTA
DISTRIBUTIA TALIEI
DISTRIBUTIA GREUTATII
-
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
PRINCIPALELE CAUZE DE INDICARE A TS
Sheet2
DISTRIBUTIA PE GRUPE DE VARSTA
Sheet3
DISTRIBUTIA PE GRUPE DE VARSTA
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
PRINCIPALELE CAUZE DE INDICARE A TS
Sheet2
DISTRIBUTIA PE GRUPE DE VARSTA
Sheet3
DISTRIBUTIA PE GRUPE DE VARSTA
DISTRIBUTIA TALIEI
DISTRIBUTIA GREUTATII
DISTRIBUTIA DEFICITULUI PONDERAL
-
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
PRINCIPALELE CAUZE DE INDICARE A TS
Sheet2
DISTRIBUTIA PE GRUPE DE VARSTA
Sheet3
DISTRIBUTIA PE GRUPE DE VARSTA
DISTRIBUTIA TALIEI
DISTRIBUTIA GREUTATII
DISTRIBUTIA DEFICITULUI PONDERAL
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]
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FIBROZA CHISTICAIntroducereTestul sudoriiIndicatiiTehnicaLimite / Surse de eroareAlternativeStudiul IOMCConcluziiA XXV-A CONFERIN NAIONAL ZILELE PEDIATRIEI IEENE N.N. TRIFANIAI, 25 - 27 OCTOMBRIE 2012
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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
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TratamentEFECTELE ACESTORA POT FI POTENTATE DE fizioterapieAlfa-Dornaza (Pulmozyme)Antibiotice SistemiceCiprofloxacina poantipseudomonazice iv (Ceftazidim, Carbapeneme, Comb. cu Tazobactam, Aztreonam, Aminoglicozide, Colistin)
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CONCLUZII
Testul sudorii [iontoforeza pilocarpinica] reprezinta standardul de aur in diagnosticul Fibrozei chistice.
Metoda este relativ simpla, rapida, reproductibila si precisa.
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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.
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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