Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review

Abstract

Background Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare. Early diagnosis and intervention can improve the survival rate to some extent. This study adopted the case of a 26-year-old pregnant woman to explore the clinical and imaging manifestations and progress of CD concomitant with ARPKD to enable a better understanding of the disease. Case presentation A 26-year-old pregnant woman was admitted to our hospital for more than 2 months following the discovery of pancytopenia and increased creatinine. Ultrasonography detected an enlarged left liver lobe, widened hepatic portal vein, splenomegaly, and dilated splenic vein. In addition, both kidneys were obviously enlarged and sonolucent areas of varying sizes were visible, but color Doppler flow imaging revealed no abnormal blood flow signals. The gestational age was approximately 25 weeks, which was consistent with the actual fetal age. Polyhydramnios was detected but no other abnormalities were identified. Magnetic resonance imaging revealed that the liver was plump, and polycystic liver disease was observed near the top of the diaphragm. The T1 and T2 weighted images were the low and high signals, respectively. The bile duct was slightly dilated; the portal vein was widened; and the spleen volume was enlarged. Moreover, the volume of both kidneys had increased to an abnormal shape, with multiple, long, roundish T1 and T2 abnormal signals being observed. Magnetic resonance cholangiopancreatography revealed that intrahepatic cystic lesions were connected with intrahepatic bile ducts. The patient underwent a genetic testing, the result showed she carried two heterozygous mutations in PKHD1. The patient was finally diagnosed with CD with concomitant ARPKD. The baby underwent a genetic test three months after birth, the result showed that the patient carried one heterozygous mutations in PKHD1, which indicated the baby was a PKHD1 carrier. Conclusions This case demonstrates that imaging examinations are of great significance for the diagnosis and evaluation of CD with concomitant ARPKD.

Caroli’s Disease Associated with Autosomal Dominant Polycystic Kidney Disease with Acute Pancreatitis: A Case Report

“…It can be carried out using imaging tests such as abdominal ultrasonography, computed tomography, isotope scan, ERCP, and MRCP. 9 Caroli disease can be complicated by the formation of liver abscesses, intra and extrahepatic lithiasis, and even cholangiocarcinoma. 8 The treatment of Caroli disease depends on the clinical features and the location of the biliary abnormalities.…”

Histopathology and molecular pathology confirmed a diagnosis of atypical Caroli’s syndrome: a case report

“…The incidence of CD is approximately 1 in 1,000,000 live births [ 2 ]. It is widely recognized that CD is associated with mutations in the polycystic kidney and hepatic diseases 1 (PKHD1) gene [ 3 , 4 ]. According to the diagnostic criteria for Caroli’s disease, it is classified into two subtypes: Caroli’s disease type I, characterized by cystic segmental dilation of the bile ducts, and Caroli’s disease type II or Caroli’s syndrome (CS), which is associated with saccular alterations of the hepatic ducts, liver fibrosis, and even cirrhosis with manifestations of portal hypertension [ 5 ], as observed in our patient.…”

A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease

“…The incidence of ARPKD is estimated to be 1/20,000 of live births. It features progressively growing multiple cysts in the collecting ducts of the kidney and further development to end-stage renal disease (ESRD), but also presents as congenital hepatic fibrosis or even portal hypertension [ 1 , 2 , 3 ]. ESRD typically occurs in the first 10 years of life and leads to the need for renal replacement therapy before the age of 20 [ 4 ] in approximately 50% of cases and progressive hepatobiliary disease requiring a liver transplant in 10% of cases.…”