CYSTIC FIBROSIS:
AN OLD DISEASE WITH NEW HOPES
Honors The.sis
Susan Everh81't
t:be ll-:tcidence 8TfLong the black popu18.tion IS only one In 17 . ClOO live bIrths
'mel in the Orienbl popubtions the dise'3se is ra.re (RDsenstein. :::0).
Accordincre· to Bervl
Rose:nstein CF is 8n 8utosorfl81 recessrle cre:nehc
~.
0
1
dis88.se, "~T.lhich fne8.ns th8.t in order fi]r 8. l:lerson
to ex])ene:ace. the 3"VTnptofflS
.
.'
..
t"~v'c
defecti"':l8 genes rnust be inherited
n'OlTl
the pal'ents, In the instance of
both p's.;'ents being Co3l'1'IerS there is a 25':··;:. chance th'3t the child '",ill h8.'1e CF
and
8.
5 Ci (:.;, chal1ce th"t the child 'will be a. ca.rrier. If '3 person with CF
COficelv'es 8. child 8.:nd the other parent is
8.
carner, the:o the child
"~1;,rill he~'le 8.
sDdlUrn. chlOride and other solutes bet",1leen the blood and the outside of the
bodv',
.' Since the 81:,itheliel cells exhibit
!!8n;~.torflic81
chloride transport across the epithelium
fi'Offl
end Rlnctiof181])o181'itv·!!.'
.'
bleed to lurnen is
.3ccomplished. Due to the electronegativity of the chlcride ion . sedmm and
water follmv the chloride and a resul tan t solu bon of sodiun. chloride is
secreted into the lu.nlerl. In orck.;: [or this chloride transporta.tiDn to occur
cyclic .Al\lIP-depende:nt tr3nsepitheli;:d chloride current is necessclly .
CF epitheliu.fn this cU.rrent is :not prese:Clt (2:3),
that the
~ene
,_,
res'oonsible
fbr CF is loc8.ted on the
r-
lon~_, ;~l'lTl
of hUffl;:tn
;~Dd
in
;:t.
chrOlTiosofn8 7, The gene is spread cr;rer a.long stretch of DNA co:nsisti:Clg
Dt' recrions
that do not code KIl' l:lrotein.. therefiJre the d'ene
.:.ctu811v
t:,
c·
.' is rnade
1 ,4:3 i] tUTlino aDlds c811ed the cv'stic
"
fib!'OSlS tre!J.1s1TlelTlbr;~Tle
conductance
regu18.tor (CFTR),
Since CFTR has
~h8.t
8.
region that binds 8denisone triphosphate (ATP). the
tdlo\v chloride ions eDces;:; thrOU:2'h the cell fn81Tlbr;:1D8. HO\VE0ler, in CF
.~
enlthel18
the 81Tlino acid . DhenvL:tlanine,
is lTllSsin dt:, at 1:!Osltlon 50:3 of the
.r.j,."
CFTR p"Jtem Normally this '3rnino acid lies in the ATP-binding site . l:nJt the
lacking a.:cn.i:no
;~Did
hi:CJ.ders the. ATP bi:nding ;j.:f1d resu.l ts in the cess8.tioD. of
chloride ion transportation across the cell fflefflbrane (T .ivI.B,.' 2 :~i -:3 Ci),
Since the Cy"stic Fibrosis cell is defective i:n chloride transport8.tio:n.'
sodium and ',,,rater 81"e p_1.l1ed in to the cell resulting in the productIOn of
thin}i'eely-t1o"-.\ring secretion, the rnucus glands produ.ce
;3.
fflucoprotein that
accumulates and chlates the glands. The secretions coagulate and fClnTl
concretions in the :2'lends
and dtlcts le8.dinf!'-' to the e"'lentu,31 block8.¢e
of the
-'
-'
SJ.Tl:311j);3SS;;3des
t,
in the
Or~8l1.S,
c:,
In the 1:1i3.ncre8,S the thick fnucus blocks the ducts c3JJ.sin Cft:, cvstic
.'
dil;~.tions
of the srnalliobes of the gland ',,,,ith eyentual degeneration and diffuse
fibrosis. This l:lrocess reslJ.lts i:n
8.
;frosslv
c·
.' sffl811er, thinner., end firrner
ref:l.ch the ciuocienurn . digestion and absorption of nutrients 8re ifnp8ired.
Generally the islands of Langerh8ns remam unaffected . but they decrease
in number
8.S
the fibmsls progresses which
a.ccOUl1 ts
for the increased
mcidence Df dIabetes mellitus in duldren wlth c:vstic
fibrDsls
.'
(l::::'~;c!-l::::,:n),
disease irl':l"ol"';r8s the 63stroi:Cltestin;31
tr;3Dt,- the resDiratorv tract and the
Co
L
.'
reproductrO:l8 tract,
In the. c·vastrointestin81 tract,' the 88rliest S\;t"[flf-Itofn
seen is lT18coniuffl
.'
ileus in the ne." . .bDrn, where the lumen c,f the small intestine is blDcked with
duck,'.JJuttvHke,
teflaDlOUS meconiuIn '31'ouncl the ileDcec81 v81'.'e,
.'
.
ThIS
cDncHtlOn leads to mtestm81 obstruction including <uxlomin81 chstentlOn .
u·orniting., f8ilure to P8SS stools . dehydration . 8nd electrolyte
irflb81;~.:nce,
ill the dise;::.se progresses obstruction of the pcu-Icre3.tic ducts occurs . .,<'1 th
·:Cfl
;3bsence of the p;:li1creatic e:nzyTfl8s needed
tD
CD:C1,;rert fi]od iflto absorbable
compounds, Consequently the nDncligested food is excreted resultmg in
excessively 18rge stoDls th"t 8re frothy and fc)ul smelhng due tD the
Gnabsorbed
f.3.tS aILd
proteins, The child
(:0111 pensates
D:Jr this 7",t;ti th
;3.
'lor;3C10US 3.ppetite . but \veight loss perSists . . \rith
.
8. failure tD gro\v, Easy'
bl'_llSm;s
and anemia 1S 8IlDther cDfflplication of CF related to the m8i::,ility to
absorb f8.ts '3ncl f8.t soluble vit8rnins A, D. E., and K. While the most COIflInon
complication is prolapse d the rectum., ,311 children 81'e subject to peptic
ulcers .
iffl pacted
teces.' abdofflin81 crarn ps., and
fi:11J.l
t18.tu.s (V?h;31ey, 1:3 ~f 1),
InvolVing the respiratory tr8.Ct, pulfflon81'Y pl'oble!Tls affect alnwst all
children .,,,ith CF, Ini.tJ811y wheezmg and a. elly, nDnprocluctive cough
IS
floted, This is fi]llo\ved bv
, bronchial and brcfll::hio181' obstruction "'I-,ri th
disturbance and eve:ntlJ.t=dlv·
l:ru,lrflD:narv
.'
.second8.rv'
. . . ' infections.
[)1j1
sl:(flea
em[-'tNsema and 1:;;3.tches of '3telect8sis, H'l)eraeratwt1 of the nmctioninF.'
~
~
~
;3lveDh c;:\u.ses an Dvermt18.ted, b&rrelsh8.ped chest,
F.s the dis8;3se progresses the child
the fingers and toes . chronic sinusitis.'
"~vill
suffer
n;~s81
frOffl
cy;:(('"!osis . clubbing of
poly'ps and repeated episodes
cfbro:nchitis ;3,:c..Ld broncholJneUfnoflia. c;3JJ.seci bv' St:l.j]hv"locClCClJS 8ureus and
J.
. ' . '
PseudOfflOf183 a.eruginos8., Bec8use of this, CF children have 8. higher
incidence of 881',. nose . and throat surgeries in
COfnp8l'ison
to the general
IflClde:nce of cel~,<ic81j:lI:dlJ'os
and increased 'liscositv'
8nd dehv"dr8.tion of
J I
. ' . '
sterile related to 8b:nornv:tl de':lelDpn18n t of the >;l8S defere:ns, epididYfflis! ;jnd
sen-llnal 'ilesicles. Sterility is also due to blockage of the vas deferens . . :vith
historv'
of the disease, abse:Clce of the r
rl8.flCreatic
enzvrnes, chronic
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puhnoflery in':,Tol-:,rerfle:nt, end en increese in the electrolyte concentr:3.tion of
sweat,
A fij~r[1ilv
historv
,;
.' of one or [.Clore effected childre:n 31erts health ca1'e
personnel to the
pos"'ibili~"
is fi:lund cornrno:nly
ifl
of the birth Df8. 8.nother affected child, When
CF children. Pa.tchy· ;3.telect8.sis and a pattern of
Iflfiltratl'l8 bronchoj:(neU[flo:nia. is see:n in e.d·'lanced cases (VJhelev,
.'
1:::~i2\
According to Lewis 03l1d CDlliel', tbe main diagnostic test fe'r CF IS the
3we8.t chlonde test. PilOC81'pine tnmsfmtted via 8. SlT1,,;1I electric;,;l current is
sodiulTl 81-1d chloride conce:ntratio:ns, "'ii81u8s greater than f:i5 IT1Eq/L fi:Jl' both
"l...., ;-,
-t'
lL.L'j';.--",.... ,_-cl.,.1 ,e u
-,,.·,t.IL-. Ii"l-Jl,-.,.,
u ..... l ....
L,~..:o
I,.,~o,,,
u "_,4),
As R, \Velss pOints Dut though the ge:ne responsible for CF h;j3 bee:n
d~~err[lined
than 4 CI
sorne discour8gi:l.1g findings he:-:re .:dso beer1 discovered,
:CflU t;j.tiOflS 81'8
kno·..,;'"n to cause CF,.
;~nd
the nutnber
. con
fll;3V
~,,'~Dre
tinu8
to
gro\v, E<;,ricience S1J.ggests that cliffe-refit [nutations rn8Y deterrni:ne the
dis8,jSe'S seven tv',
Df
.' This [nutation variabilitv'
.' has slcr,,\o"ped the de"'ilelonr,nent
.ran effective pren'3.t8l screening test.' which ncr,v must be able to detect 811 of
the CF ":;';)Jsing Inutations, Until this has been '';Dcomplished, the existing
methods of prenat:;l diagnosis ',vill have to be rehed upon (52),
The cu.rrent method of prenat8l diagnosis utHizes DNA a:flalysIs, In
faDlilies T\vhere the CF 6ene
CBl1. be fi]und in both D8re:Clts, DI',JA 8rLahr sis
o
J.
--'I"-"~dU ,_,','.1. e
~
.,,_\ I_·L.
-"!'j'=-t
·- '1':-"11"'1'"
<::"-1.." "!'='l-t'l
l-'
tl..o 1_-11',::II;.'
1..,,:,.
~l
itUTlilies Ty"lhere the CF
~
~8:ne
"-'
can not precIsely" dIagnose
,,~t'(,(.0 ..: ';}
"L'I-'1!'~-"
......'J..J.1 ,,0
.:'lU-,_1._1/1)
"_"_
t::'L· ... ,
..
.'
H-"~'~!'
U,...'c:",r:::.,
c:~n
I'll
can be ii]u:nd in onlv'
.' o:ne ..D8.rent,- DNA 8D;31v'sis
.'
prenat811~l.
In these instao.c:es testing can help
predlct ..~tlhether the u:nborn child is free of the dis8Bse,
DNA ;jl1al\rSIS
recluires blood
"
S81TIDles fi'OlTl
,
each 1:18rent and
frOffl
the
affected child, The DNA IS obt,:;ined l)ren8.tallv
eIther fi'om chorionic villi 8.t
.'
'I -~, "'(reeks gestatIon Dr fj'orn ffrnniotic t1uid in rmdtrimester, If the diagnosis
,:'81'1 not be ma.de by DI',JA 8nalysis then saInples of the alTlfllotlC t1uid taken '3t
8.
fetus is developll1g ','nth CF, the activity of the intestinal '31b:;lme
Emy" of theses f,grnilies, the assist'311Ce of an 8:-:perienced genetic counselor is
C11J.ci81
(Rosenstein ,:32),
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•
•
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According to Rosenstem, to
Justi~"
n8"",>l::,orn screenmg for CF the
fcllo·. .vind' criteri3_ [£lust be n-let:
'"
:(tThe disorder is se"'rer and occurs fi'ecjuentlv
"
*The scree:ai:ng test is 'ilalid . i:n terrflS Df se:nsiti"':.rit:{ 8~C!d
specifici~{!
under
routine conchtio:ns,
*Trea.trfLent is enhanced by" starting befc,re the age 8.t
"~vhich
8. Cli:Clical
"Less costly fnethods are um01aiI8ble,
The di8.g:nosis of CF is often fflissed in inf8T1C)" . ¥'fvith apprOXlfnately
:::;Ci'~.'b
of
the p8t!ents reported to the Cystic Fibrosis FGlJ,nd8tion registry in the United
Sta.tes :nct
bein~
t:. di;~anosed
~,
until 8fter one veal' of ;=.613, These deL:r,,:'s lead to
"~'.,
fnore ii'equen t hospi taliz8.tions, m8,pproprJ;'ite di8gnostlc and therapeu tlc
Intel"";l'e:ntions,
;~.nd
unnec:eSSarl,l
cOfnnlicatio:os,
All of this creates B. needless
.'
r-
dr:3in on the patient's f8:fflily .:tnd on the i.18tion.:d health expenditure (::::3).
inter"tentiofls of CF 81'e palliati';le and involve the cornplice.tions of the disease
iflore than the S:yii1ptmT1s, With the advaflces
3p~n
of a person "'~l,<ith CF is 2Ei Y'8;:tl"S . but
reSl)ir8,tmv
.'
~J,nction
fe"~V"
In
treatment., the average life
people liv'e beyo:nd 41], SInce
is the kev
tre8.tfnent
.' to fn8intainin"
"=, life,. nB,l'o!'
.
ITIDdalities 81'8 8ifned at controlling
pulfflcn81~:l
inft3ction and COfflplic8,tjons,
Almost evel), person wlth CF d8"lelops chronic bacterial colonization of the
bronchi due to increased "':.:1.SCOSI tv and ljroduction of res~llr;3.tor't
r
. secretions,
~
--1-
_,C ·-,-t }J11/
- '-, •..:;._;. . 1..1
-t'- ,-'=I.}JY
- t.0 !.-\- --- t1-Llle..:.,.
.il!:;!
eLrt:!tI..:-e
.... 18 HUIll Jet,~-t-'t,--·tw 1..1
1.:1.1.... t:!!,'10::1. !,"~I-I'-"
,_I _ ,_.},
Itl
infancy" the
''''',·,.-1 ;L11
'.-.
Q.J.1'_-I.
i.TIDst COi.TlfnOn
+'.1"1-1,::,
.:,rl,-,lp·
... ~·pn+'.
,_. '_'._-1._'
_.,:,,,_._.
isolated pathogen is Staphy-locDccuS
8.1.J.relJ.s.,
'::"'-1,-1
,::,,-11_'.'1+'. "-''-'''-'1'
,- P~P11,-I'-'rj-l~'rj'::"""
(4"1' 1.1._'':''0,
',-, ,- ."'.- ;l':"....
_-I. ,_,,i.
j_"_it_,_,....l.::,tl·'-'~
'::.•.. _11':"
.... _._. _ _ ,
c. 0::.0;;"" '-oP"""
._,1 '-"r,
'::".J.
.
~
t[',
P
• 1_'
orev81e:nt D8.thDd"efl,
Eo
~
.i.
DlJ.ri:n~
c·
8Dute infections 1:';31'e:ntered arniflI]O"l'"cDsides
.:md
t ..
selmsynthetic pemClllin antibiotics ;31'e given routinely, Because CF patients
excrete dl1J.gS 1Tlore npidly th;3n normal people, blood se11J.l11 leyels and
kidnel Krnctio:n studies rnust be lTICflitored closel\r to "Drevent
.'
.'
a.chie-:red, ;3nd 01'81 antibiotics ;31'8
~i'jten
c·
J.
toxici~l,
.'
interr,nittentlv
or co:nti:C1uolJ.slv
.'
.'
prophylactically, Children ·w·ho receive these dl1J.gS over long periods of tlme
:need to h8:ve t1'eque:Cl t ;3udiogr;jlT1S dune 8.nd need to take "tli t:UTlin I(
supplements, The cmtlblOtics ;31'e rotated to decrease the inCIdence of
developing resist·311Ce to any single d1'1J.g (I...e'\1..is-, 5!j4 & Whedey . 13~1:=:-4).
'i/3ricru.s nlethods of chest ])hvsiothera.pv
are used to induce
.'
.'
S]:lUtUffl
productio:n, such ;33: percussiC:fJ." ,tibra.tlDfl! postur81 drainage . coughi:ng, and
fi:l!'Ced exr,)ir8.tion, Prior to l')hv·siothera}:(I"r.
C'o:ents aC.Ld
r- .'
.' fnu.colvtic
".'C.
bro:nchodil3.tors are often used to decrease the "llscosi t\;o of the secretions
"
d.J.'1d tc iflc:rease the dia.rneter of the
the
lT1UCUS,
;:lir\,,~~"'S,
.' .
1118kind'
c' it 88sier to
eXIJer:tor;~.te
Generallv
the jJhv'siotherar(l,l
is 'nerfi:lrrned
bv'
another j:lerson so
.'
.'
c.'
r.'
that the patlent can concentrate on bringing up the sputun-, and expelling It
(Dibble, :3DD),
Chest ]:,hvsiother;3,j)V should be c81'ried out several times dailv
"
"
"
prophylactically, and ;;S often 8S the child can tolerate it durmg aDJte
mfectwus eX8cerbatlOfls, HCl>11eVer, the physlOtherapy needs to be scheduled
so that it is not perfOlTfled immecilately before or after ffleals due to the
occurre:C.Lce of V'OlTliting , I\,'Ioist tdr is also provided by· interfnitte:nt inh318.tion
ther8.!:~{,
i:n conJu:nctiofl \vlth postlJ.r;:d drainage! to lTloiste:n the bronchial
secretions 8nd 8ssist i:n their eva,(:ue.tiofl, In order to be effecU".;"e, the
jJ8l'tides of mmstUl'e must be srn;3l1 encnJgh tD penetrate the sffl811er bronchi;
therefore flebuliz;3tiDfl ITlust produce pm'ticles [1,5-5 IT1Cg., In dialTleter,
.L\ntibiotics and bronchodilator;::
;lebulizeticn
ther;3.1~)V,
oJ
(:;~n
be used in con)u:nctlon "'!-,:ith the
The. recorl.1rnended theraDv· consists of three stel)::;:
....'
1, Postural draina"
'=, e fix 5 -1 CI fninutes
,-,
Nebuiiz;~tion
;],
Post1J.r;~l
v,11th appropnate solution
dr8inage ferr 1D-20 :cninutes
PDstur;31 drainage
be~xe nel:nJ.liz;~tion
permIts deeper penetntiofl of the
rnmstu.re pel'tldes,
In &!cl! tion to the
physlDther<'l:~r,
exercIses tel 1m prove pDstu.re and
rnobiliz8 the thorax are encouraged, Theses exercises i:Clclude 81Tfl S"'"'!-1.:i.nging
and tl'J,nk bending and twisting, Ne'", evidence has shown th;3t ;3.erobic
exerCIse is j1J.st as effecti';le as chest phy·siotherapy· in the rerflo'\i'";31 of
resDira.toI'\7
(""Vhalev,
...
,. secretions
.' . 1393-4),
.
Recent rese8rch has discovered hvo
reducin£" the incidence of r1uln10rl;3r"r
~,
~.'
ne"~\:'"
trea.tn1ent rnocl:::dities ibr
inf~3ction::::
in CF lJ;3.tie.nts,
t'iD
eXlJenmental dm."o e;;lled DNase was sho\vn to licju;;fV
secretions
bv chonl:,mc'
.
'.'
,
c.
IJ,I:' the DNA so It can be expelled, thus 8llevlatin"t, one of the worst S\TfilntofilS
.'
~
frorn circlJ13.ting neutrophil:::: and i.113.cropha.ges th'3.t
.jl'8
::::urnrnoned to the site
oflun):' mfections, & the cells che,. DNA is released in to the mucus,. where it
~
is vu.l:ne1'8ble to degl'adatio:Cl by DNase, Ho\\rever; the enzyn1e does not h8l'ffJ.
norrl1al tissue because it C,3Tl not reach DNA hOlJ.sed sarely in the nuclei of
cells, Hum;'in trials of Dn;se beg;;'in in ,Ju.ne, 1990 . and after ,; week of
treatrnent the patients stated that they had thinner i.T1UCUS and that it
"'!-~l8.S
e;3sier to clear it ft'Offl their airv..rays, Since only preliJ.Tlifla.ry· testing on the
fl;;\V
drug lBS been cornp];;t;;d, the drug's long -tenT! side effects ha:"e not
been. deterrnined (Gorl"ler . :3A: I',/Ierz, 10),
p
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The other new tree.tment is aimed 0.1: preventmg the excessive ebsC>l'ption
of sodium in the bronchi,~l epi theliu.fn,
Rese'~rch
h8s rcnJ.nd that aerosolized
"lTliloride., .,. sodiufn cr,.,nnel blocker., reduces sputum vIscosity ,md improves
fnucus cleoY8nce m adult p8.tJ.ents ."ith CF, The diuretic ,1lorks by blockIng
"bsorption of solt end water at the epithe!J.al cells, Mer six mDnths of
treetment sputum s8Tnples showed that mucus we;,; more t1uid during
an1ilci'id'3 therapy'" end the. a:vera.ge loss of lung fiJ.ncticn
dfuTls.ged lung tisSl.le, but it does appeal' to prDtect the
n~orn
infection bv'
thi:nni:nvt:;:. the secretions
"
trF3:.t
8et
fi'0i11 lTl1J.CUS
rern8inin~
buildup
h1flg tiSS'lte
;33 breedin~:r
"=, grounds
"_,
fbr
'1)8.tho>,ens, Amiloride mac,' keel:) adults mfectim, -fi'ee f;Jr Ion>, F,eriods of
_,
'"
'--- -' tl- ,-··--t-,;
t.ll.lle.
.... lU;:;.• pI
e \' ell .. 11lE,
J.
_"
n-'---t '--.-t
'~-t·-·
-jequell.
llU;;;'}Jl _811.:.tr
.. 1011;:"', H-'
.l.U "T.,..-.,-,
~ 'e e1 . "",d--"
11';'... 1,-.-e,;:'t:';:lyl_
.... l
1.1_"... -_ ..
J..
needs to be done to deterrnme the drug's SNety '311d efficacy, especially -,,,hen
treating children (Fackelm'3nn,
21~;O),
Suzanne Dibble points out that steroids
81'e
'3lso prescribed when there is
an a.cute deterioration of pul:cno:Cl8ry fiJf1ctioning that is unrespo:nSi"il8 to
"F
8ntlbiotic therapy or increased chest physlOtheraE1', end ·."hen allergic
bronchopulmomny aspergillDsIs exists (:300),
Another respir'3tmy com plic"tion is
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is
8. COffHT10fl
Blood streaked spu tum
occurrence Ln CF . although it is not usually' seen belcl\v the
of ten. The source of it is
Thera.F~'
hemop~,"sis,
~e:Clera11v'
~
~
eroded blood T'lessels T,>\cithin the
8,ge
lu:n~s.
~
should continue if the SPJ.tuffl is only streaked., hcr,vever; if
signific8Tl t ;3111(1).[1 ts of blood
81'e
t3;.:pector8.ted.' therapy' ",,:vill need to be
discontinued in f3YOr of anDther trea.tfnen t. Massive
hemop~"sis
is a. late
fnanifesta.tion of CF and has a poor prog:fJ.osis, Angiographic 8iTlbolizatio:o is
Ti'tvored -,,,hen more COnSelY'3,tlve man"gement fulls to stop the bleeding
('Dibble., :::: DC!),
•
A third respiratol)' cOfnplication is SpofltarJ.eons pneUfflothorax . .vhich
results from the rupture of 8. S'lJ.bpleunll bleb, ThIs event US'lJ.'311y occurs
In
:3.dolescence . .,rith the ;3.'irerage ;:tge of onset recorded at fifteen, The f110:.:::t
COiTLCflon
•II
preserlti:ng cOfnplai:Clt is chest
;::cu.1 be deterrnined
T~rith
relntl::r.b:n.;f'=, the luncrt:,
8ne!
pain .....T,nth
dyspnea., and
8.
di8.g:nosis
8. chest X-l'8:V",
Ernerge:ncv'
trea.tlTle:nt is 8irfled at
.'
'-'"
decre;3:sincr
the dvs]:Jnea., Cie:nel';:dlv
'='.'
.'
chest tube is
;3.
lHsel'ted and maintained u.ntil the lung is e:':p'')nded '3nd no '3irleaks al'e noted
ii)l'
24 hours, Persiste:nt airleaks require snrgical ll.1ter'ile:ntion, Since
recurre:nce
1S COH1lT1Dfl"
sclerosing agents., such
;33
tetr;j.cy·cline a':C1d
I.
qU1fJ8.crme., '31'e instilled into the pleur81 sp3.ce to stirfluL3.te 8n inn'3rnrnatOlY
\1
the chest ',vall end recurrence
!
•I.
I
response . which will obliterate the sp8.ce, This C<3lJ.SeS the lung to '3.dhere tD
IS
unlikely
.'(Dibble, 3(0),.
.
AnDther therapeutic intervention of CF is lTlaintaining good nutrition and
pr~l'enting intestin~l
obstruction, Due to irflpaired intestinal ;:tbsorption.,
e.nT,lff18S.
VJa.ter-soluble fonT!s of"l1ta:cl1tns A. D, and E 81'8
"
~i';le:n
c·
oj,
dailv'
i.el tv. rice
.'
the norTfl;:rll\T
t-:Jrescribed if
.' recDrflTflended 81Tloun t.' and ?\,l"i t81Tlin K is rhypothrolTlbinernia is present. Supplernentmy iron is
gr~l'e:n.'
a:nd often diet
SlJ.):.plements are prescribed to r-nrovlde additionall)rotein
. vitanlins, end
...
~~
~
cruories. These slJpplen1ents include Carnation I:nstant Breakfast . Ensure .
•
•
•
I
;3nd Sust8.c81, A relationship has been derDonstr8.tecl
bet'"~,Tee:n
iffl prcr:ted
.nutritional status and increased pulrflon;:IlY fl1uscle strength fi]llo"..x.ring
parental nutl'ltion su.pplementatlOn, theref;Jre.: short-tenTl pal'ent'31 nutrition
may be IlTlplerneDted (Whaley., 1392),
P::lIlcre8.tic enzy"ffle. replacernent is gt-.,ren in conJunctiDn "\vith ".eneals ;:md is
•
•
•
•II
reguL3.ted to fnEIl:nt;:lJfl florrne!} nutritiof!.' gro\vth! and bO~~llel fnovernents,
Le~s
enzyme is needed if the child is constipated, and more IS reqUIred if the
stools rernein loose and fa.ttv',
of
.' The dose is deterrnined bv'
.' the cied'ree
c·
en~rffle
deficiency',. fi:u:1Ci i:nt3ke, and the 8.rnount of destruction of exoge:nous
The most recent and preferred enz:,rme prepal'ation is Pancrease, which
IS en teric -{::oJated to deL"v
release ;"nd destl11ction m the ;3cidic
.' enZ\'me
,
e.n>;nro:nrnerl t of the
StOffl8Ch,
The ca.psu.les [nay' be S"v.,7;:Jkr. .ved in tact
Dr
broken open 8nd sprinkled on soft food, such 83 8pples8JJce or puddmg, The
.3!lera,ge dose is three capsules per
lTL8al .....,rith
:3. 1';3.nge of one to six depending
adrninistered to decrease dastric
'3.cid cDnterlt, Since s::dt del:lletiD:n thrOlJ.dh
b
0
&
•II
II
•
•
•
3\VB8.tmg is a ha.zal'd, generCtlJs use of sal t is allowed \'lHh addi tWflal salt taken
l:3!~:3),
dUring hot -,'leather or rebrile states (Wh81ey,
Anc;ther troublesorne problern encountered by people with CF is the
tendency' to ret:llfl kU:II:I re.sidues
ifi
the ileufn,
ceCUfn .
;jnd co10:o" \vhich is
celled "meconiurn !leus eqUIvalent", The 8bnormallyviscous mucus binds
with the incompletely digested rec311T!8tter 8nd forms firm m;3$ses
In
the
ettentiDn to t1U1ds, cUet., exercIse and pancreatic enzyme titration is the best
\T,,~8:l
.'
to Dre';tent intestin31 obstl"lJCtiOfl (Dibble, :3D 1),
.1
Diabetes is
'
;~.
corn plic;~.ti!Jn
of CF that
.
•
•
in[:1'8;338 ~,.\ri th 8.g-e,
~
A.n. cr;:d
~_,lucose
onset of CF d18betes is uSIJ.all',l
01'21.(11...1.81 and in snite
of ff.L3l'kedhr
. c,
r
.' elev';jted blood
gl>J.cose levels, p8tients rarely h;"(','8 ketone bodIes in theIr blood or unne,
I
Generally people ',vith CF diabetes require lower insulin doses than the usual
•
•
•
•
•I
I
II
I
I
I
I
,
di8betlc p8tient 8nd the diet
ffluch more liber8l (Dibble, :::01),
IS
The hst CF com .LnliC3.tion to be disc:1J.ssed is cor Dulmonale.
H\l:<ertrol:ih",
L . ' . '
of the left ':lentricle due to
nuli.11.0fl81'V·
r
~
CF [i;j,tie:nts, The tr88.trflent i:ncludes
-'-
disease is
lci'·~v
;j,
:en8.l'or
.
fi:r.ctor in the death of
t1cr. .v I]x"v}1en
thera.jJ'l,
salt reduction.,
.' -'
.'
8:fld diuretics "\.vith potassiurn S'upplerflents,: digoxin is
1,;~.r81y
helpfiJL The
successliJ.l control of cardioD f3ilure is dependent upon good bronchi'3l
drainage
aDd infection cDntrDl. The treatrnent fflcu:iahties
.'
fi]l'
these al'e
described earlier ([hbble, :301),
:(nd promise, Ho\vever., the birth
of,~
child with 8. defect destroys that
drealTL According to PhyllIs r,,.'leyer, the simult8necoJs loss of the ide8l clnld
and the adaptation to a child ,vith a defect fnake elefnands on parents that
c",'en~'helmmg,
c8n be
Few events in life result in
'3S
much chronic
SOl'l'o-.V'3S
the birth of ,;. child ',vith ,;. chronic or debilitating condition, The grief c,on be
so great th8t the p8rents 8re unable to establish ;'), reJ;3.tionship WIth the child
at 811. 1',,Ijothers e.nd fathers also often feel gmlt
which
-'
th;~.t
is
o":lerprotec~i'v'8
.' result m behavl0r
iTli'.!!.'
err reJecting . SDCOfl1parded by' reeling,s ofUflcert8int::l
;j.:nd discour;3gerl1ent, I:n order
fiJl'
probleffls . they' :need i:nfiJrlTlatio:n .
the p'3re:nts to deal "y;,rith the ne....v
1J.nderst~Tlding
a.rid support 1:)0-21),
Another parental response to the bu,th of a child wlth a elefect is that of
[[181'1 t;:d
discord, A decre;3se in the le"i,rel of COfnfl1lJ.nic8tion bet'~reen husb8nd
I
I
,
veb of sile:nce ", There
1J.,....
paren ts
n'OlTl
81~e
.
s8":,;reral I)sv'Chosoci81
problerfls that
.'
))l'Ble:nt
mrun t81ning usual Rlnctioning pattern wInch include:
decre'3sed tirfle 8nel ener<5>1
t . .' ''i'l8ij::ble for leisure 8Dtlvities, less Urne ',vith self,
less tirn8 alo:ne "y"rith their spouse . and an i:ncrease concern O'iler fi:n8.nces,
l
Resentfnent is :flDt unCOfn:cnon due to the in. . . .estrfle:nt of the p;jre:nts tir.n8"
8fler@Jr . and n-loney intD the C81'e and IT!anagerflent of their chilcrs illness,
HC'''..\c8o;rer,. this resen tnle:Cl t does not .:::eern to 51;
d"nific3n
tlv' ,
affect
cllJ.ali
tv of
: '
. the
, .
,
care give:n to the child or the parents; ability to find satisf.3.cticn Irl theIr
!'elationships wHh theIr child (lvleyer. 21).
.
Ho,vever.. the 811 tici D8ted death of theIr child often leads j)8ren to' to
isoL3.te thelTlselves fi'on1 f;3111ilv
;~nd fi'iends, Fati:tue
in coniunction "..,rith
.'
- ' .
decreased ])erson;:d tirne and rnonev 81so contributes to thIS soci8l isolatl0fl.
"
Along 'P'Iovith that., fi'iendships are lirflited! S1.1pport s:{stelT1S be-corne f18JTD\Ved
;~nd
i
respite C;3re is difficjJlt to obtein (Ivleyer, 21-22),
As Phyllis I',,ileyer pOints Dut, because their parental role h8s not only
changed, but h8s intensified: these parents 81'e at I'lsk D]r
f~lT1l1y
dysfi.mction,
Possibly the rnost usefi.Jl g811ge of successfLl1 parental adaptation is theIr
ability to contmue liJ.nctioning in
8.
supportive role despHe the mternel
cont1icts and psychological distortions, Pel'en ts need adequate tirne to
spend . .vith each other . Dccasional respite ft'ofn the d;jily
C;3l~e
of the child.,
and co:ntlnuous enc:oUl'ageJ.Tlent that their child has the potential to live a
relativelv
nOl'rnallife, TIle ft.lkr,vin"t:, criteria
.'
C;3n
be used to eV8lu;:<te ;3d;3Dtive
J.
p:31'en t:d responses:
"The ebilitv" to cOfflj)rehend the n8ture of the disease.
'The ability of parents to corrlrnumcate the seriousness of the Hlness to
ell rnembers of the immediate farnilv,
"
'The ability of the parents to respond to the chsease with appropn;te
gnef'P\-,:;thDut inhibiting expressiDn of feelings in ther.C1sel":t8s Dr others.
O:Cle of the fliost ifnpcrt::(nt copi:ng tasks
fi:lt'
p8re:nts to
In
;3.chiBt8
SlJ.ccessfLd :3.cL=,-pt:8tion is therapeutic COfflJ.Tlunic8.tio:n, One challenge of
parenting
8.
child ',vith a. chrome, life-threatening illness is explaining the
illness to the sick child and the well siblin>",s,
Connie
-'
states th8t
C:U181Tl
p;31'ents say they' ha\re fnuch difficulty' t81kirlg to their child about the
oro£'"nosi3 ;jJlCi Dften 8~lOld the subj-ect cDffll:tletehl. Pal'ent;:; ::dSD belie'ir8 thev'
l
,_"
.
.
'
.'
tell their duldren enou>",h abcnJ.t CF, althou>",h most admIt thev onlv 8nS\1ler
~
~
~
~
questions, do not repeat explan,;tions., and give all their children the saTne
inlbrma.tion \"ithout reg81'd to age,
1111S
IS mcongment wlth the pal'ents'
o\\'n needs to get all the inft'lTnation they can acquire, and tc. have it
repeated several times due to difficulties with retention (167 -1 7Ei),
comrnUnlcate 8bout cystic
fibrosis 'within the f8n-.ilv,
This role includes
.'
.'
a$SeSSf.ne:nt of parental co:cn:cflu:nication skills .
~.Jjd8.nce
in . .,I:t.;r;~\;rs to
corflfflunlcate {rlOre eifecti"':lely·,. 8.:nd 8ssist8nce in helplng p81'ents realize th8.t
I
~
II
I
i
Though cystic fibrosis has been 8ckncr\.'i'"ledged fl)l' ff.lany Y"88.tS .. a
re"':,1J,t;:Jiz':ItiO:fl of attention herE been directed tC),\V'81'ds the dise;:tse of late,
Gei.18 theranv'
is the ne'"W"8st research to be conducted on cV'stic
fibrosis .
r~
~
Because CF is
defective
In
;3T1 8UtOSOff181 recessi~"re genetiC
disorder., both genes fnust be
order ft.r the disease to fnamfest itself. therefC'l'e.: replacir,g or
~:;orrecti:n~
;fene
'_' ;:!Tl ;3bnorrn;~l c
· lTl3:l
. ' restore norrf181 ~Jnctionlnd,
c.
Since the
gene for CF has been ide:CitifiecL sCIentists have been
,i=·,·,.::;,
e:,Gl.1'_'
"1-'·"::"'·'
1·]-'11
h ':;"'-",-.-,,,",
~J.'_''''J.
.".", l'-::.ti'-"l·'
'.' _.1.'_' J. ?T"";t'
""'.l_J.J.
....·,_' .. i. ... G
c:o:nduc:tin~
reS881'ch on
=-'··,-·,-nlr'=-Ol-'-'cr
'-'t, J..Lt:. ]''''',-,,'It"
Co':;".' . • ':'"
G.l.i._-_ •.
CF. V?ith the 8.ddition of the he8lthy'
the cells becofn8 robust and
. ¢,ene..'
,3bsorbin¢.- 8nd secreh:n:2,- chloride ions, Still., the scientists
IT!1J.St
be~i:n
-
no\v
deten-11ine whether the insertion of the gene will affect the sodium levels in
the cell
,3S
well (lA-2A),
Researchers ',varned that lflstalling copies of the flDlTfl'3l cystic fibrosis
gene lntD CF p;:..tients could h8"i,78 seriDus side effects, T,,1,rhich h8:VB not yet
·:.'Jncl! tions, and researchers state that clinical therapies h3Sed on the ne',v
18bor8.tOl~~7
I
reslJ.1ts Bre still years in the DJ,ture,
3lJ<'<'est
that
c,c·
of the
Su]:,>:,lvin~
r-"
_,
Ne\\r
8xperifflents strongly·
]:;;'l.tients .,,,ith ne.,,, "enes
",,111 reverse rn:3rl\!,
'_
.' if not ,311,
;:t~soci;j.ted 5VTfl])tOfflS
{An£"ier,
.'
, '-'.
lA-2A·'i,
"
In September, Ei'jij, the Nation''ll Institutes of Health be:;(an the first
ieder811y approved atterr1pt to treat a genetic al:ll1C1lTn,31ity 111 a human patient
fr·orn. the S8rnE:
ifnrflu:ne-..:;~{sterfl
disorder that u1tilT!ately' killed DaVid! the
11:IIJ~{
in the bubble" from Houston, The researchers rernoved ''Ii'3ble cells h'om the
~)rl
and
cCtf.nbined the:C!1
"',:vith
hUfflan
ge:nes that produced the
eflZ}cff18
she
increasing list of disorders i:1.1 "",rhich a defucti':i"e gene is responsible, If gene
ther'3.):,v.,vorks
fi=.r l:,eo]:,le with CF., then tins currentlv
termin"l
disea:;e
rna','
...'
.
'
.
fl()
lon~er
~
be classified ·\vith the. fatal ones
(Seli~D18nn,.
~
r34),
WORI{S CITED
Public').tions,
Angier. Natalie, IlHe81thy ge:ne used to cure cy"stic fibrosis,;! Thp.
J01J.1').131
G8zettp, September 21 H.l c:lD , lA-2A
lf37-17B,
Clmic81 Update,
Dibble,. Suz3rlne L. and !VL31'ilvfl
C. Sao:redra, "Cvstic
fibrDsis in adolesce:nce'
.'
.'
FackelffJ,af1n . }":,A, "Diuretic
April 2:3
19~~CI-,
slo"'~T,.rs
c:y"stic fibrosis darnctge." Science 1',Je vs .
T
...
1:37., 2Eil],
The t,/Iuncie Stel'.' OctDber :3
l!~ 9 CI!
::::A,
Le';l1ta.fl, Ir",.:vi:n E, "The basic defect in CY'stlC fIbrosis,"
!
I,
Ii
i
i
S-:lF!flce,
I\.'L3n~os!
-
Joh:n A, and Richard C,
F1J.ture,
1~~{7t~j,
T,jl;31TICt, ~~YBti,-:
Fibrosis: Projections into the
,
Il"llia.ffli, Florida.: SYTflposia. SpecialL:.:ts,
I',/lerz Be. .rerlv,
"ProlTlisinl1-' CF trea.trflent sL3.ted kit' clinic;l tnals,1I Arflp.ric;3D
,.
Rosenstein, Bend,J
"C\;"stic
fibrosis: the outlook irfll:;rOV'8S," Patient
"
.'
~
.}8nu'3Pl
~
r.
;
.~ellgrn8nn!
C81'8,
::::0 19:3B,.22,
. :::0-42,
. .-,~- (-'_"enes COflver t_SIC
. k:. ce II"
,_IeaT!, "(-"_urI rIg c)rs t·_Ie Ii"j:lros1s
s,
.j.
I',Je.,,,,,w"ek., October 1 lEiEiD, (,4,
FiblT:sis". 1~~1E~4, Boca Raton., Florida.:
eRe Press.,
Inc,
Vieiss" RicK, "CystiC fibrosis ge:ne: too rfl8.ny rnutants," Science Ne\vs .
Whaley, Lucille F, and Donna L, Wong, NurSing Care of Infi3nts and Children
VlLnchester,< A,~,/I, and Tho:Cl1as R, I\IIerterls,
COhJ.ITlbus.' Ohio: Bell
IS~ Ho"~vell
HtU.T18n
COfflpany,
Genetics, (4th ed,,!., 19B:],