Lapsus Anak (Kolestasis)

7/21/2019 Lapsus Anak (Kolestasis)

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BAGIAN PEDIATRIK LAPORAN KASUS

FAKULTAS KEDOKTERAN OKTOBER, 2015

UNIVERSITAS MUHAMMADIYAH MAKASSAR

LAPORAN KASUS

KOLESTASIS

Oleh :

Muh Aditya Manulusi

10542 01! 10

Pe"#i"#in$ :

d%& '( Andi Ten%isanna) S*& A

+I,A-AKAN +ALAM RAN.KA TU.AS KEPANITERAAN KLINIK

,A.IAN PE+IATRIK /AKULTAS KE+OKTERAN

UNIERSITAS MU'AMMA+IA' MAKASSAR

2015

2



,A, I

PEN+A'ULUAN

Beberapa !"#er $a%&' %er&() #er*a$ba# $e()e(a*& "!*e%#a%&%, ba'"a( !"#er %pe%&a*&%

p+( apa# #er"e!' $e(-a()"a "!*e%#a%&% %eba)a& ."+(&() b&a%a/ -a() apa# '&*a() e()a(

.$e(e$+r/ ba-& Seba*&"(-a, aa !"#er -a() $er++" #er*a*+ epa# e()a( %+ra# r++"a(

$e(-eb+# pa%&e( e()a( "!*e%#a%&% paa'a* ba-& #er%eb+# e()a( pe(&()"a#a( b&*&r+b&(

&(&re"1

K!*e%#a%&% bera%a* ar& "a#a chole a( stasis Chole berar#& e$pe+, %ea()"a( stasis

ar#&(-a 'a$ba#a( a& "!*e%#a%&% apa# &ar#&"a( aa(-a 'a$ba#a( a*&ra( e$pe+ Ha$ba#a(

b+"a( 'a(-a !b%#r+"%& a(a#!$&%, #e#ap& apa# +)a #er'a$ba# "are(a #ra(%p!r# e$pe+(-a

#er)a())+1

K!*e%#a%&% paa a(a" pa*&() %er&() #era& paa $a%a ba-&, &(%&e(% "!*e%#a%&% paa

ba-& $e()e(a& "+ra() *eb&' 132500 ba-& Terapa# ber$aa$4$aa$ pe(-ebab "!*e%#a%&%

(e!(a#a*, #e#ap& %a#+ pe(-a"&# -a() #&a" b!*e' #er*ea#"a( aa*a' a#re%&a b&*&er A#re%&a b&*&er

6AB7 aa*a' pe(-a"&# 'a#& -a() &%ebab"a( "er+%a"a( pr!)re%&8 %a*+ra( e$pe+

e"%#ra'epa#&" %e'&())a b&*a #&a" &*a"+"a( &(#er9e(%& bea' apa# $e(-ebab"a( "er+%a"a(

'a#& -a() epa# ber+pa %&r!%&% 'a#& a( a"'&r(-a )a)a* 'a#& I(%&e(% a#re%&a b&*&er & A%&a

#er(-a#a *eb&' #&())& ar&paa & Er!pa, D& Ta&a( &(%&e(% a#re%&a b&*&er 13:;50 "e*a'&ra(

'&+p, *eb&' #&())& ar&paa & Er!pa -a() &(%&e(%(-a 131;00041<000 "e*a'&ra( '&+p a&

%eba)a& !"#er & I(!(e%&a -a() #er$a%+" A%&a, per*+ $e()e#a'+& ara $e(+r&)a&

"e$+()"&(a( a#re%&a b&*&er paa pa%&e( e()a( "!*e%#a%&% Ke#er*a$ba#a( &a)(!%&% a(

#a#a*a"%a(a a#re%&a b&*&er apa# bera"&ba# #era&(-a %&r!%&% 'a#&, '&per#e(%& p!r#a*, a( )a)a*

'a#& -a() 'a(-a apa# &#!*!() e()a( #ra(%p*a(#a%& 'a#&1

Beberapa e#&!*!)& "!*e%#a%&% $+a' &"e(a*& a( apa# &&a)(!%&% a( &#erap& !*e'

!"#er Ke*a&(a( #er%eb+# $&%a*(-a %ep%&%, &(8e"%& %a*+ra( "e$&', a( '&p!#&r!& T++a(

pe(+*&%a( &(& aa*a' +(#+" $e$ba'a% ara $e(&a)(!%&% "!*e%#a%&%, #erap& aa* +(#+"

"!*e%#a%&%, a( "apa( per*+ $er++" pa%&e(1

3



,A, II

LAPORAN KASUS

A& I+ENTITAS PASIEN

Na$a 3 B-+$ N! Re)&%#er RS 3 =1 >> 2:Ta())a* La'&r 3 1;40<42015U$+r 3 2 'ar&e(&% Ke*a$&( 3 La"&4*a"&Ta())a* MRS 3 1< Sep#e$ber 2015R+a()a( 3 Per&(a#!*!)-

,& I+ENTITAS ORAN. TUA

Ayah

Na$a 3 T( R+%#a$

U$+r 3 2: Ta'+(

Pe"eraa( 3 B+r+' Ta(&

Ke%e'a#a( 3 Se'a#

I#u

Na$a 3 N- +$a*&a'

U$+r 3 25 #a'+(

Pe"eraa( 3 IRT

Ke%e'a#a( 3 Se'a#

4



& ANAMNESIS

Ti*e Ana"nesis 3 A**!a(a$(e%&%

Keluhan uta"a 3 D&%#e(e ab!$e(

Ri3ayat *enyait sea%an$ 3 Pa%&e( MRS &r++" ar& p+%"e%$a% bae() *a'&r

#a())a* 1;40<42015 %eara %p!(#a( %e)era $e(a()&% e()a( A?S @?10 Ba-& bera#

*a'&r 2>00 )ra$, Pa(a() Baa( La'&r =5 $, Ba-& bera# %e"ara() 2105 )ra$ Ma%+"

e()a( "e*+'a( &%#e(e ab!$e(, #&a" aa e$a$, #&a" aa $+(#a', #&a" aa

"ea(), #&a" aa ba#+", #&a" aa %e%a", r&a-a# B+a() a&r "e&* 67 r&a-a# b+a() a&r

be%ar be*+$ bab %ea" *a'&r

Ri3ayat Penyait dala" Kelua%$a 3 T&a" aa a())!#a "e*+ar)a -a() $e(er&#a

pe(-a"&# %a$a e()a( pa%&e(

Ri3ayat Keha"ilan) Kelahi%an) se%ta Tu"#uh e"#an$ 3 Pa%&e( &"a(+() +"+p

b+*a( Pa%&e( *a'&r & p+%"e%$a% %eara %p!(#a(, &#!*!() !*e' b&a( Ba-& *a'&r

*a()%+() $e(a()&%, #&a" #erapa# baa( b&r+ $a+p+( "+(&() %aa# *a'&r Bera# baa(

*a'&r pa(a() baa( Ib+ #&a" &()a# Pa%&e( $e(apa# ASI R&a-a# &$+(&%a%& 3 &(

Hb0

Status i"unisasi ,elu" Pe%nah 1 2 Tida Tahu

a"*a

P6li6

+i7te%i

Tetanus

,.

Ri3ayat Sauda%a :

A(a" "e 1 ar& 1 a(a", "e)+)+ra( 0 "a*&

5



NO SE UMUR SEHAT?SAKIT APA KARENA1 C > 'ar& Pa%&e(

+& PEMERIKSAAN /ISIS

Keaaa( U$+$ 3 !$p!%$e(#&%, a"#&8

S#a#+% G&& 3 G&& Ba&", %!re 41 SD $e(+r+# BB?PP

Bera# Baa( 3 2>00 )ra$

Pa(a() Baa( 3 =5 $

Ta(a V&#a* 3 Na& 120 ?$e(&#

Per(a8a%a( 5= ?$e(&#

S+'+ >;,2 !

KEPALA LE'ER

o Kepa*a 3 N!r$!ep'a*

o L&()"ar Kepa*a 3 >= $

o Ra$b+# 3 H&#a$, *+r+%, #&a"

$+a'

& ab+#

o Ub+(2 be%ar 3 Be*+$ $e(+#+p

o Te*&()a 3 Re!&* %e)era

o Ma#a 3 H&per*e#!r&%$e #&a" aa

o H&+() 3 A#re%&a '!a(ae #&a"

aa

Napa% +p&() H&+() 67

o

B&b&r 3 Lab&!%"&&% #&a" aa

o Ka"+ K++" #&a" aa

o De9&a%& #ra'ea #&a" aa

o Pe$be%ara( KGB #&a" aa

o Pe$be%ara( "e*e(ar #'-r!& #&a" aa

6



o L&a' 3 Ma"r!)*!%%& #&a" aa

o Se*M+*+# 3 S#!$a#&#&% #&a" aa

T'ORAKS AR+IOASULAR

I(%pe"%& 3

o S&$e#r&% "a(a( a( "&r&

o De8!r$&#a% #'!ra"% 647

o Re#ra"%& 67,

Per(apa%a( +p&() '&+() 67

Pa*pa%& 3

o Ma%%a 647, Krep&#a%& 647

o L&()"ar Daa 3 >2 $

Per"+%& 3

o S!(!r "a(a( a( "&r&

A+%"+*#a%& 3

o B+(-& per(apa%a( 3 Br!('!9e%&"+*er

o B+(-& #a$ba'a( 3 R' 4?4 , ' 4?4

I(%pe"%& 3 I#+% !r&% #&a" #a$pa"

Pa*pa%& 3 I#+% !r&% #eraba

Per"+%& 3

o Ba#a% a(#+() "&r& 3 *&(ea $&*a9&+*ar&%

%&(&%#ra

o Ba#a% a(#+() "a(a( 3 *&(ea para%#er(a*&%

e"%#ra

A+%"+*#a%& 3

o B+(-& a(#+() I a( II $+r(& re)+*ar

o B&%&() 647

7



A,+OMEN EKSTREMITAS

I(%pe"%& 3

o e$b+(), $e()&"+#& )era"a( (apa%

o A&#e% 647

o Re%&+ 15 6!"*a# "e'&#a$a(7

Pa*pa%& 3

o D&%#e(e 67 aa

o Ma%%a T+$!r 647

o N-er& #e"a( 647

o Ta*& p+%a# ba%a' 67, #a(a raa() 647,

ba+ 647

o L&()"ar Per+# 3 >2 $

Per"+%& 3 T-$p'a(& 67

A+%"+*#a%& 3 Per&%#a*#&" 67, "e%a( (!r$a*

o S!*&!%&% 647, G&bb+% 647

RE/LEKS

o KPR 3 ? N!r$a*

o APR 3 ? N!r$a*

o Bab&(%"- 3 67

T!(%&* 3 T&a" &e9a*+a%&

+IA.NOSIS ,AN+IN. +IA.NOSIS KER8A

o A#re%&a b&*&er, "!*e*&#'&a%&%, Hepa#&#&%

(e!(a#a* &&!pa#&

K!*e%#a%&%

PENATALAKSANAAN PEMERIKSAAN PENUN8AN.

o S#!p &(#a"e !ra*

o Pa%a() 02 0,5 *p$

o OGT e"!$pre%&

o Raa# &("+ba#!r

o IVFD e#r!%e 10J, @?a$

o A$p&&**&(, 110 $)?12 a$

o Ge(#a$&&( 11 $)?>: a$

o F!#! T'!ra

o Dara' r+#&(, G+*a ara' %ea"#+,

B&*&r+b&( #!#a*

8



o Ra(&#&&( > $)?12 a$

E& 'ASIL /OLLO- UP

TAN..AL PER8ALANAN PENAKIT INSTRUKSI +OKTER

1@?0<?2015

+ 1 p 1

S Se!ra() ba-& *a"&4*a"& $a%+" r+$a' %a"&#

r++"a( ar& p+%"e%$a% Bae() La'&r

#a())a* 1;?0<?2015 La'&r %eara %p!(#a(

%e)era $e(a()&% Ke*+'a( per+# b+(&#

Aa $er&(#&', aa re#ra"%&, r&a-a# b+a()

a&r "e&* ba&", r&a-a# b+a() a&r be%ar

be*+$ per(a' %ea" "e$ar&( M+(#a' beberapa "a*& %ebe*+$ "e r+$a' %a"&#

berar(a !"*a# #+a

O Ba-& bera# *a'&r 2>00 )ra$, pa(a() baa(

*a'&r 3 =5 $ Ba-& bera# %e"ara() 2105 )ra$

ep'a* 'e$a#!$ #&a" aa,

ap+# %+aa(e+$ #&a" aa

Tra+$a *a'&r #&a" aa

Re8*e"% M!r! ? %&$e#r&%

Re8*e"% &%ap ?

Re8*e"% #e*a( ?

TTV 3 SB >;, 2

HR 120?$e(&#

RR 5=?$e(&#

BBS 2105 )ra$

Par+ 3 BP 3 Br!('!9e%&"+*er

BT 3 R' 4?4, ' 4?4

&(%#r+"%& r S-a$%+* N+r %pA 9&a

%$%4 Pa%a() 02 0,5 *p$4 IVFD e#r!%e 10J,

@?a$4 S#!p &(#a"e !ra*4 Raa# &("+ba#!r 4 A$p&&**&( 110 $)?12 a$4 Ge(#a$&&( 11 $)?>: a$4 Ra(&#&&( > $)?12 a$4 Per&"%a GDS, Dara' R+#&(

9



Re#ra"%& &(&() aa 67

V 3 B I?II M+r(& re)+*er

BT 3 B&%&() 647

Me#ab!*&"3 &"#er+% 67 "ra$er =, +e$ 647

Ab 3 Per&%*a#*#&" 67 "e%a( (!r$a*

1<?0<?2015

+ 2 p 2

S Ba-& $e(e#e" 647, OGT 67 e"!$pre%&

I(8+% 67 e#r!%e 10J

O = De$a$ 647 #&a" aa, Se%a" 647 #&a" aa,

M+(#a' 647 #&a" aa, '&p!#er$& 647 #&a"

aa, S&a(!%&% 647 #&a" aa, Kea() 647 #&a"

aa

Re8*e"% $!r! ?

Re8*e"% &%ap ?

Re8*e"% #e*a( ?

BAB 3 ar(a p+#&' e$p+*BAK 3 ba&" 6*a(ar7

KU 3 *e$a%

TTV 3 S >;, 2

HR 152?$e(&#

RR 5:?$e(&#

BBS 2105 )ra$

Par+ 3 BP 3 Br!('!9e%&"+*er

BT 3 R' 4?4, ' 4?4

Re#ra"%& &(&() aa 67


4 Pa%a() 02 0,5 *p$4 IVFD e#r!%e 10J,

@?a$4 S#!p &(#a"e !ra*4 Raa# &("+ba#!r 4 A$p&&**&( 110 $)?12 a$4 Ge(#a$&&( 11 $)?>: a$4 Ra(&#&&( > $)?12 a$4 Per&"%a 8!#! BNO %+p&(e

10



BT 3 B&%&() 647

Me#ab!*&"3 &"#er+% 67 "ra$er =, +e$ 647

Ab 3 Per&%*a#*#&" 67 "e%a( (!r$a*

GDS3 105 $)?*

B3 L >,:10> ?+L

RB3 >,;>10:?+L

HGB3 1>,= )?L

HT3 ><,5J

MV3 105,< 8L

MH 3 >5,<p)

MH3 >>,< )?L

PLT3 2>110>?+L

20?0<?2015

+ > p >

S Ba-& $e(e#e" 647, OGT 67 e"!$pre%& I(8+%

67 e#r!%e 10J

O = De$a$ 647 #&a" aa, Se%a" 647 #&a" aa,

M+(#a' 647 #&a" aa, '&p!#er$& 647 #&a"

aa, S&a(!%&% 647 #&a" aa, Kea() 647 #&a"

aa

BAB 3 ar(a p+#&' e$p+*

BAK 3 ba&" 6*a(ar7

Re8*e"% $!r! ? Re8*e"% &%ap ?

Re8*e"% #e*a( ?

KU 3 *e$a%

TTV 3 S >:, @

HR 152?$e(&#

RR 5:?$e(&#

4 Terap& *a(+#

11



Par+ 3 BP 3 Br!('!9e%&"+*er

BT 3 R' 4?4, ' 4?4

Re#ra"%& &(&() aa 67


BT 3 B&%&() 647

Me#ab!*&"3 &"#er+% 67 "ra$er =, +e$ 647

Ab 3 Per&%*a#*#&" 67 "e%a( (!r$a*

Ha%&* 8!#! 4Ra-3

Ta$pa" &%#e(%& !*!(, "e%a( &aera'

re#!%&)$!&

• Ka*%&8&"a%& pa#!*!)&% #&a" aa

• T+*a()4#+*a() &(#a"

Ke%a(3 Ta(a4#a(a !b%#r+"%& +%+%, $+()"&(

paa &%#a* !*!(21?0<?2015

+ = p =

S Ba-& $e(e#e" 647, OGT 67 e"!$pre%& I(8+%

67 e#r!%e 10J

O = De$a$ 647 #&a" aa, Se%a" 647 #&a" aa,

M+(#a' 647 #&a" aa, '&p!#er$& 647 #&a"

aa, S&a(!%&% 647 #&a" aa, Kea() 647 #&a"

aa

BAB 3 #&a" BAB

BAK 3 ba&" 6*a(ar7

Re8*e"% $!r! ?

Re8*e"% &%ap ?

Re8*e"% #e*a( ?

KU 3 *e$a%

TTV 3 S >:,;

HR 1=1?$e(&#

RR 52?$e(&#

4 Pa%a() 02 0,5 *p$4 IVFD e#r!%e 10J,

@?a$4 S#!p &(#a"e !ra*4 Raa# &("+ba#!r 4 A$p&&**&( 110 $)?12 a$4 Ge(#a$&&( 11 $)?>: a$4 Ra(&#&&( > $)?12 a$4 Per&"%a DR,GDS,

B&*&r+b&( #!#a*?&re"

4 Per&"%a #&(a > p!r%&

12



Par+ 3 BP 3 Br!('!9e%&"+*er

BT 3 R' 4?4, ' 4?4

Re#ra"%& &(&() aa 67


BT 3 B&%&() 647

Me#ab!*&"3 &"#er+% 67, +e$ 647

Ab 3 Per&%*a#*#&" 67 "e%a( (!r$a*

22?0<?2015 S Ba-& $e(e#e" 647, OGT 67

e"!$pre%& I(8+% 67

e#r!%e 10J

O = De$a$ 647 #&a" aa,

Se%a" 647 #&a" aa,

M+(#a' 647 #&a" aa,

'&p!#er$& 647 #&a" aa,

S&a(!%&% 647 #&a" aa,Kea() 647 #&a" aa

BAB 3 #&a" BAB

BAK 3 ba&" 6*a(ar7

Re8*e"% $!r! ?

Re8*e"% &%ap ?

Re8*e"% #e*a( ?

KU 3 *e$a%

TTV 3 S >;

HR 10=?$e(&#

RR 52?$e(&#

BBS 1@;5 )ra$

Par+ 3 BP 3

Br!('!9e%&"+*er

4 Terap& La(+#4 R++" RSS e()a(

%+%pe" a#re%&a b&*&er

13



BT 3 R' 4?4, ' 4?4

Re#ra"%& &(&() aa

67


BT 3 B&%&() 647

Me#ab!*&"3 &"#er+% 67,

+e$ 647

Ab 3 Per&%*a#*#&" 67 "e%a(

(!r$a*

Re%&+ 3 12, "+(&()

B&*&r+b&( #!#a*3 10,>1 $)?*

GDS3 125$)?*

14



,A, III

TIN8AUAN PUSTAKA

1& +e7enisi 6lestasis

K!*e%#a%&% &e8&(&%&"a( %eba)a& pe(+r+(a( a*&ra( e$pe+ a( &#a(a& e()a(

pe(&()"a#a( 8ra"%& b&*&r+b&( #er"!(+()a%& 6&re"72 K!*e%#a%&% (e!(a#+% &e8&(&%&"a( %eba)a&

pe(&()"a#a( "aar b&*&r+b&( #er"!(+()a%& -a() ber"epa(a()a( a*a$ %er+$ %e%+a' +$+r

1= 'ar& per#a$a K!*e%#a%&% paa ba-& bar+ *a'&r $+()"&( "are(a &(8e"%&, )e(e#&", $e#ab!*&",

a#a+ "e*a&(a( -a() #&a" &#e)a%"a( -a() $e(&()"a# "are(a !b%#r+"%& $e"a(&" a*&ra( e$pe+

a#a+ )a())+a( 8+()%&!(a* ar& 8+()%& e"%re%& 'a#& a( %e"re%& e$pe+2,>,=

2& E*ide"i6l6$i

Seara "e%e*+r+'a( "!*e%#a%&% paa ba-& #era& +"+p #&())& -a&#+ 1 per 2500

"e*a'&ra( '&+p Pe(-ebab pa*&() +$+$ "!*e%#a%&% paa b+*a(4b+*a( per#a$a "e'&+pa(

aa*a' a#re%&a b&*&er apa# #era& 1310000 '&())a 1315000 ba-& a( 'epa#&#&% (e!(a#a*5

Paa pe(e*&#&a( & RSUP Dr Ha%a( Sa&"&( Ba(+() ar& a(+ar& 2011 '&())a

De%e$ber 2012 &apa#"a( 50 ba-& -a() #er&r& ar& ba-& *a"&4*a"& >0 6:0J7 a( pere$p+a(

20 6=0J7, paa +%&a 141< b+*a( a( #erba(-a" paa +%&a 2 b+*a( 15 6>0J7 T&()"a# b&*&r+b&(

&re" :,=141@,21 $)?L, e()a( "e%e*+r+'a( "e*+'a( "!*e%#a%&% e()a( 'epa#&#&% MV,

506100J7, Hepa#!$e)a*& =;6<=J7, Sp*e(!$e)a*& 10621J7, &%er#a& !*e' a#re%&a b&*&er

<61@J7, %&r!%&% 5610J7, 162J7 ba-& $e()a*a$& "eb+#aa( "!r#&"a*, =6@J7 )a())+a(

pe(e()ara(, 162J7 H&r!%e8a*+%, =6@J7 erebra* pa*%-, a( 162J7 "a*%&8&"a%& &(#ra%erebra*5

& Eti6l6$i

a K!*e%#a%&% e"%#ra'epa#&" 1

4 A#re%&a b&*&er e"%#ra'epa#&"

4 K&%#a +"#+% '!*e!+%

4 I(%p&%%a#e b&*e?$+!+% p*+)

4 K!*e*&#&a%&% a#a+ billiary sludge

4 Per8!ra%& %p!(#a( +"#+% b&*&ar&%

b I(8e"%&

15



4 V&r+% 3 HIV, MV, 'erpe%, r+be**a, par9!9&r+% B1<, e'!9&r+%, ae(!9&r+%

4 Ba"#er& 3 I(8e"%& %a*+ra( "e$&', %ep%&%, %8&*&%

4 Pr!#!!a 3 #!"%!p*a%$a

Me#ab!*&" ? pe(-a"&# )e(e#&"

4 I&!pa#&" 3 S&(r!$ A*a)&**e 6 síndrome paucity of the interlobular bile ducto r

arteriohepatic displasia), Nonsyndromic paucity of the interlobular bile ducts,

Progressive familial intrahepatic cholestasis 6PFI7 14> 6B-*er &%ea%e7

4 Ke*a&(a( $e#ab!*&%$ "arb!'&ra#3 Ga*a"#!%e$&a, Fr+"#!%e$&a, G*&"!)e(!%&%#&pe

IV

4 Ke*a&(a( $e#ab!*&%$e a%a$ a$&(!3 T&r!%&(e$&a

4 Ke*a&(a( $e#ab!*&%$e *&p&3 !*$a(, N&e$a((4P&", Ga+'er

4 Ke*a&(a( $e#ab!*&%$e a%a$ e$pe+3 3-beta-hydroxysteroid dehydrogenase /

isomerase deficiency, -oxosteroid ! beta reductase deficiency, "ell#eger

syndrome$

4 Ke*a&(a( $&#!"!(r&a3 Citrin deficiency, %lpha-&-antitrypsin deficiency, 'ibrosis

(isti(, Panhypopituarism %ep#!4!p#& -%p*a%&a7, H&p!#&r!&

= T!"%&"

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&(#e)r&#a% 8+()%& apara#+% %e"re%& e$pe+ A"&ba#(-a, berba)a& "eaaa(?pe(-a"&# -a()

16



$e$pe()ar+'& 8+()%& (!r$a* #er%eb+# a"a( $e(&$b+*"a( "!*e%#a%&% Pa#!)e(e%&% "!*e%#a%&%

&(#ra'epa#&" #er%eb+# apa# &abar"a( *eb&' *a(+# %eba)a& ber&"+#

a Ga())+a( #ra(%p!r#er 6NaK ATP4a%e a Na b&*e a& !4#ra(%p!r#&() pr!#e&(

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#er%eb+# a"a( ber"+ra() Keaaa( &(& apa# #era& $&%a*(-a paa pe())+(aa(

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a#&p&" & "a(a*&"+*+% b&*&ar&% -a() berp!#e(%& +(#+" $e()a"&ba#"a( "!*e%#a%&% a(

"er+%a"a( %e* 'a#& Keaaa( &(& apa# #era& a"&ba# pe(-a"&# inborn error,

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e$pe+ a"&ba# *e%& paa tight +unction, $&%a*(-a paa pe$er&"%aa( e%#r!)e(e Ga())+a( paa %a*+ra( b&*&ar&% &(#ra'epa#&":

5& .a"#a%an linis

K!*e%#a%&% &%ebab"a( !*e' ber$aa$ pe(-a"&# -a() berbea, "ara"#er&%#&" -a()

%a$a ar& %e$+a pe(-a"&# #er%eb+# aa*a' &"#er&" a"&ba# "!*e%#a%&% Ga$bara( "*&(&% %eba)&a(

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B&*a ra&(a%e e()a( #&(a"a( bea' #&a" ber'a%&* &*a"+"a( paa #a'ap aa*

pera*a(a( pe(-a"&#(-a 6&ea*(-a %ebe*+$ +%&a 2 b+*a(7, pr!)re%& "e ara' )a)a* 'a#&

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4 Hepa#&#&% (e!(a#a* &#a(a& e()a( ba-& -a() #a$pa" %a"&#, e()a( pe$be%ara( 'a#&

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17



%eara +$+$ $e$&*&"& pr!)(!%&% ba&", a( %eba)&a( be%ar $e()a*a$& re%!*+%&

%p!(#a( 2

4 S&(r!$ A*a)&**e &#a(a& e()a( "!*e%#a%&% "r!(&", e()a( )a$bara( b&!p%& 'a#&

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)a*a"#!%e$&a a#a+ e(r!"&(!pa#& apa# &a#a%& e()a( $e&"a$e(#!%a2

A A(a$(e%&%

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a Aa(-a &"#er+% paa ba-& +%&a *eb&' ar& 1= 'ar&, #&(a a"!*&% -a() per%&%#e( 'ar+%

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b Paa 'epa#&#&% (e!(a#a* %er&() #era& paa a(a" *a"&4*a"&, *a'&r pre$a#+r a#a+ bera#

baa( *a'&r re(a' Sea() paa a#re%&a b&*&er %er&() #era& paa a(a" pere$p+a(

e()a( bera# baa( *a'&r (!r$a*, a( $e$ber& )ea*a &"#er+% a( #&(a a"!*&% *eb&'

aa*

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Aa(-a r&a-a# "e*+ar)a $e(er&#a "!*e%#a%&%, $a"a "e$+()"&(a( be%ar $er+pa"a(

%+a#+ "e*a&(a( )e(e#&"?$e#ab!*&" 68&br!4"&%#&" a#a+ e8&%&e(%& 14a(#&#r&p%&(7

B Pe$er&"%aa( 8&%&"

Dar& pe$er&"%aa( 8&%&" &apa#"a(32

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> Ab!$e( 3

18



a L&9er 3 pe$be%ara(?+"+ra(, "!(%&%#e(%&, per$+"aa(

b Sp*e(!$e)a*&

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$e$bea"a( a(#ara "!*e%#a%&% e"%#ra'epa#&" a( &(#ra'epa#&" De()a( "r&#er&a #er%eb+#

"!*e%#a%&% &(#ra'epa#&" apa# &bea"a( e()a( "!*e%#a%&% e"%#ra'epa#&" @2J ar& 1>>

pe(er&#a M!-er $e(a$ba' %a#+ "r&#er&a *a)& )a$bara( '&%#!pa#!*!)& 'a#&2,:

19



Pe$er&"%aa( pe(+(a()

Pe$er&"%aa( pe(+(a() -a() apa# &*a"+"a(32,:

1 Ga$bara( ara' #ep&

2 B&!"&$&a ara'

Ser+$ b&*&r+b&( &re" a( &(&re"

ALT 6SGPT7, AST 6SGOT7

Ga$$a G*+#a$&* Tra(%pep#&a%e 6GGT7

Ma%a pr!#r!$b&(

A*b+$&(, )*!b+*&(

K!*e%#er!*, #r&)*&%er&a G+*a ara' p+a%a

20



Ure+$, "rea#&(&(

A%a$ e$pe+

> Ur&( 3 r+#&( 6*e+"!%&# +r&(, b&*&r+b&(, +r!b&*&(!)e(, re+"%&7 a( "+*#+r +r&(

= DAT 6a%p&ra%& a&ra( +!e(+$7

5 Pe$er&"%aa( e#&!*!)& 3 TORH 6#!"%!p*a%$a, r+be**a, MV, 'erpe% %&$p*e"%7,

'epa#&#&% 9&r+% B, , %"r&(&() %eer'a(a pe(-a"&# $e#ab!*&" 6)+*a ara', #r&)*&%er&a7

: Pe(&#raa( 3

4 USG +a 8a%e 6p+a%a =4: a$ a( %e%+a' $&(+$74 T %a(, MRI4 S"&(#&)ra8&

; K!*a()&!)ra8& &(#ra!pera#&8 +(#+" "a%+% "!*e%#a%&% e"%#ra'epa#&"

@ B&!p%& 'a#&

Ga$bara( *ab!ra#!r&% "!*e%#a%&% &(#ra'epa#&% a( e"%#ra'epa#&% %eara "a%ar =

I(#ra'epa#&% E"%#ra'epa#&%

ALT?AST GGT B&*&r+b&( %er+$

21



22



& Penatalasanaan

Pe()!ba#a( pa*&() ra%&!(a* +(#+" "!*e%#a%&% aa*a' perba&"a( a*&ra( e$pe+ "e a*a$

+%+% Ber&"+# pe(a#a*a"%a(aa( "!*e%#a%&% %eara +$+$31,=,:

1 Terap& e#&!*!)&"

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'a(-a >=4=>,:J

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2 Me&"a$e(#!%a +(#+" %#&$+*a%& a*&ra( e$pe+ -a&#+ e()a( pe$ber&a( 8e(!barb&#a* a("!*e%#&ra$&(, +r%!&!- '!*& a& 6UDA7:

> Terap& %+p!r#&8:

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4 MT

4 V&#a$&( ADEK

A 5000 25000 U? 'r

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• H&per*&p&e$&a? a(#e*a%$a 3 "!*e%#&p!*

• Ga)a* 'a#& 3 #ra(%p*a(#a%&

23



+A/TAR PUSTAKA

1 Ha(&8a' O%ar&, D&9&%& Ga%#r!e(#er!'epa#!*!)&, Depar#e$e( I*$+ Ke%e'a#a( A(a",

FKUI?RSM D& +(+' ar& 3 6'##p3??p)'(a&!$?ara4$e(e#e"%&4&(&4"!*e%#a%&%4paa4

ba-&'#$*ENREF17 61= !"#!ber 20157

2 E Be'r$a(, R&'ar, "" I*$+ Ke%e'a#a( A(a" E%e(%&a* Ne*%!( e&%& : Ba)&a( 1; Bab110 S&%#e$ pe(er(aa(3 K!*e%#a%&% Sa+(er% e*%e9&er a"ar#a 201= Ha*3 =@:4@

> E Be'r$a(, R&'ar I*$+ Ke%e'a#a( A(a" Ne*%!( E&%& 15 Ba)&a( 2 3 S&%#e$ %a*+ra(

pe(er(aa(3 K!*e%#a%&% Pe(erb&# B+"+ Ke!"#era( EG a"ar#a 2012 Ha*3 1><24;= S+a((a, Nra'a !(#&(+&() Me&a* E+a#&!( 9!*=0 (!@ A'*& Pe(-a"&# Da*a$,K!(%+*#a( Ga%#r!e(#er!'epa#!*!)&, RSUD K!a, a"ar#a, I(!(e%&a 201> Ha*3 5:;4;1

5 Y+&#' Se#&a#& Er$a-a r,SpA,MKe% PGHNAI aba() aa Bara# D&9&%&

Ga%#r!e(#er!*!)& Hepa#!*!)& Depar#e$e( I*$+ Ke%e'a#a( A(a" FK UNPAD RSUP HASAN

SADIKIN BANDUNG D& +(+' ar& 3 6'##p3??p)'(a&!$?"!*e%#a%&%'#$*7 61= !"#!ber

20157

: F&r$a(%-a' A)+%, "" B+"+ Aar Ga%#r!e(#er!*!)&4Hepa#!*!)&3 K!*e%#a%&% I(#ra'epa#&"

Paa Ba-& a( A(a" E&%& I, e#a"a( "e#&)a Baa( Pe(erb&# IDAI3 2012 203 >:54@1

24



Lapsus Anak (Kolestasis)

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