Caroli desease

Caroli desease, intrahepatic duct stone and

extrahepatic duct stone
Eko ristiyanto
Ilustrasi Kasus
 Nama : Ny. Lindawati
 Jenis kelamin : Perempuan
 Umur : 41 th
 RM : 4422799
Riwayat penyakit sekarang
 Sejak 6 bulan SMRS pasien mengeluhkan

mual dan nyeri di perut bagian atas, kuning

terkadang demam
 ERCP dan ekstraksi batu CBD pasang stent 3

bulan yang lalu

 Seusia anak-anak dan remaja kuning hilang

timbul tetapi jarang

 Nyeri perut hilang timbul tetapi jarang
 Riwayat penyakit dahulu :
◦ Hipertensi dan DM disangkal
 Riwayat penyakit keluarga :
nenek pasien menderita penyakit kuning
tetapi belum dikonfirmasi apakah caroli
desease
Pedigree

Ayah Ibu

Pasien
 Pemeriksaan fisik
◦ Status generalis KU baik, hemodinamik stabil
◦ Status lokalis :
 Abdomen: datar, lemas, bisig usus normal
 Pemeriksaan penunjang
Lab DPL 11.8/33.6/9300/240.000
Ur/Cr 25/0.8
Bilirubin Total 2,3,
CT scan: pelebaran sistem bilier intra dan
ekstra hepatik, batu IHD dan batu CBD
Diagnosis sesuai gambaran Caroli desease
Tatalaksana :
 Telah dilakukan operasi Laparotomi

Kolesistektomi, Eksplorasi CBD, draenase

interna Roux and Y dengan friendly access
loop
Caroli desease
• Caroli's disease (CD), also known as
communicating cavernous ectasia or
congenital saccular dilatation of the
intrahepatic bile ducts
• Rare desease
• Difficult to treat
• Rarely extra-hepatic bile ducts.
• Secondary infection cause billiary stone
• Obstruction jaundice
• Cholangitis
Counselling elements
 Reaching accurate diagnosis
 Estimation of reccurrence risk
 Genetic counselling
 Decision making
Reaching accurate diagnosis
 Strongly related to PKHD1 mutations.
Abnormal development of the embryonic bile
ducts at the stage of ductal plate has been
suggested.6p12 chromosome
 Autosomal recessive
 Sporadically, no history family

 NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
 StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-.Caroli Disease
 Authors
 Jalaluddin Umar1; Savio John2.
 Affiliations
 1 UMass Baystate Medical Center
 2 SUNY Upstate Medical University
 Last Update: December 19, 2019.
Estimation of recurrence risk
 Poorly understood
 No familial history case
 Sporadically desease
Genetic counselling (1)

 Most cases of CD are sporadic. Syndromic

cases (CS) share with congenital hepatic
fibrosis and recessive polycystic kidney
disease an autosomal recessive transmission.
Genetic counselling (1)
 Who can have genetic testing?
 How is Caroli syndrome genetic testing done

and what do the results mean?

 How are genetic testing results provided?
 What are some issues to consider?
Who can have genetic testing?

Index test Carrier test

• First test in the family, usually • Offered when a gene mutation

offered to a person who has has already been found in the
jaundice and abdominal pain family

• Testing begins on tissue • Looks only for that specific

mutation

• If needed, further testing will • Testing is done on a blood

be done on a blood sample sample

• Results take many months • Results usually take weeks

Decision making (1)
The goal of screening is to find a diagnosis
 Caroli deseases
 Antenatal examination
 Clinical symptoms
 Screening by imaging, USG, MSCT, MRCP,

ERCP
THANK YOU