Penyakit Caroli

Caroli’s Disease

Abstract

ABSTRAK

Latar Belakang: Caroli merupakan penyakit malformasi kongenital pada saluran empedu intrahepatik yang dikaitkan dengan fibrosis hati kongenital, Penyakit ini jarang ditemukan dan penyebabnya mutasi genetik yang melibatkan gen Penyakit Polikistik Ginjal dan Hati 1 (PKHD 1).

Hasil: Seorang Laki-laki 34 tahun datang dengan keluhan utama nyeri perut kanan atas sejak 5 hari yang lalu , nyeri dirasakan hampir seluruh bagian perut disertai mual dan muntah, BAK kurang dengan warna kuning pekat, BAB warna dempul. Dari Pemeriksaan fisik ditemukan gizi kurang, konjungtiva anemis, sklera ikterik, abdomen cembung dan hepar teraba 4 jari dibawah arcus costa. Riwayat pasien menjalani tindakan Endoscopic retrograde cholangipancreatography (ERCP) sebanyak 5 kali dengan diagnosa stenosis Common bile duct (CBD). Hasil laboratorium didapatkan Hemoglobin 10,8 gr/dl, leukosit 29.200 103/µL, bilirubin total 10,79 mg/dl, bilirubin direct 10,50 mg/dl dan CEA 9,23 ng/ml. Hasil Magnetic resonance cholangiopancreatography (MRCP) didapatkan hepatomegali disertai kolestatik intrahepatik sesuai gambaran Caroli dan Pemeriksaan foto polos Abdomen terpasang stent setinggi CV Th11-L2 pada duktus biliaris. Pada kasus ditemukan kolangitis dengan leukositosis dan kadar bilirubin yang meningkat ditandai manifestasi klinis konjungtiva ikterik dan pemeriksaan MRCP sesuai dengan gambaran penyakit caroli dengan peningkatan CEA akibat inflamasi kronis pada epitel bilier yang berkembang menjadi displasia.

Kesimpulan: Telah dilaporkan kasus seorang laki-laki 34 tahun dengan diagnosis penyakit caroli setelah mengalami kolangitis berulang berdasarkan manifestasi klinis dan  pemeriksaan laboratorium serta MRCP. Pasien ini memiliki bentuk penyakit Caroli tipe sederhana dengan keterlibatan bilobar. Terapi bersifat suportif dan  individual sesuai dengan presentasi klinis.

ABSTRACT

Background: Caroli’s is a congenital malformation disease of the intrahepatic bile duct associated with congenital liver fibrosis. This disease is rare and the cause is a genetic mutation involving genes for polycystic kidney and liver disease 1 (PKHD 1).

Results: A 34 years old man came with complaint of upper right abdominal pain since 5 days ago, pain was felt in almost all perts of the stomach accompanied by nausea and vomiting, BAK was lacking with dark yellow colour, BAB with a colour putty. From physical examination there were found malnutrition, anemic conjuctiva, icteric sclera, convex abdomen and 4 fingers palpable live under the arch of the ribs. The patient underwent Endoscopic retrograde cholangipancreatography (ERCP) 5 times with a diagnosis of common bile dutct (CBD) stenosis. Laboratory result obtained Hemoglobin 10,8 gr/dl, leukosit 29.200 103/µL, bilirubin total 10,79 mg/dl, bilirubin direct 10,50 mg/dl dan CEA 9,23 ng/ml. Magnetic resonance cholangiopancreatography (MCRP) result showed hepatomegaly accompanied by intrahepatic cholestatics according to Caroli’s description and plain photo examination of the abdomen witch a CV Th11-L2 stent attached to the bile duct. In cases found cholangitis with leukocytosis and elevated bilirubin levels, clinical manifestation of conjunctival jaundice and MRCP exmination are consistent with caroli disease with elevated CEA due to chronic inflammation of the biliary epithelium that progresses into dysplasia.

Conclusion: A caes of 34 years old man had been reported with a diagnosis of caroli disease after experiencing recurrent cholangitis based on clinical manifestations and laboratory tests and MCRP. This patient has a simple form of Caroli’s disease accoompanied the involvement of bilobar. Therapy supportive and individual according the clinical presentation.