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HPB : the Official Journal of the... Jan 2023Choledochal cysts (CCs) are rare cystic dilatations of the intrahepatic and/or extrahepatic bile ducts. We review the pathophysiology, diagnosis, and management of CCs. (Review)
Review
BACKGROUND
Choledochal cysts (CCs) are rare cystic dilatations of the intrahepatic and/or extrahepatic bile ducts. We review the pathophysiology, diagnosis, and management of CCs.
METHODS
MEDLINE/PubMed and Web of Science databases were queried for "choledochal cyst", "bile duct cyst", "choledochocele", and "Caroli disease". Data were synthesized and systematically reviewed.
RESULTS
Classified according to the Todani Classification, CCs are generally believed to arise secondary to reflux of pancreatic enzymes into the biliary tree due to anomalous pancreaticobiliary duct union. Complications of CCs include abdominal pain, jaundice, cystolithiasis, cholecystitis, pancreatitis, liver abscess, liver cirrhosis and malignant transformation (3-7.5%). Radiological and endoscopic imaging is the cornerstone of CC diagnosis and full delineation of cyst anatomy is imperative for proper management. Management is generally guided by cyst classification with complete cyst excision necessary for CCs with high potential of malignant transformation such as types I and IV. 5-year overall survival after choledochal cyst excision is 95.5%.
CONCLUSION
Most CCs should undergo surgical intervention to mitigate the risk of cyst related complications such as cholangitis and malignant transformation.
Topics: Humans; Choledochal Cyst; Pancreatitis; Diagnostic Imaging; Common Bile Duct; Liver Cirrhosis
PubMed: 36257874
DOI: 10.1016/j.hpb.2022.09.010 -
Journal of the American College of... Dec 2014
Review
Topics: Child, Preschool; Choledochal Cyst; Female; Humans; Infant; Prognosis
PubMed: 25442379
DOI: 10.1016/j.jamcollsurg.2014.04.023 -
Genes Jun 2022Choledochal cysts (CC) is characterized by extra- and/or intra-hepatic b\ile duct dilations. There are two main theories, "pancreaticobiliary maljunction" and... (Review)
Review
Choledochal cysts (CC) is characterized by extra- and/or intra-hepatic b\ile duct dilations. There are two main theories, "pancreaticobiliary maljunction" and "congenital stenosis of bile ducts" proposed for the pathogenesis of CC. Although family cases or CC associated with other anomalies have been reported, the molecular pathogenesis of CC is still poorly understood. Recent advances in transcriptomics and genomics analysis platforms have unveiled key expression signatures/genes/signaling pathways in the pathogenesis of human diseases including CC. This review summarizes insights from genomics and transcriptomics studies into the pathogenesis of CC, with the aim to improve (i) our understanding of its underlying complex pathomechanisms, and (ii) clinical management of different subtypes of CC, in particular their associated hepatic fibrotic change and their risk of malignancy transformation.
Topics: Choledochal Cyst; Genomics; Humans; Transcriptome
PubMed: 35741793
DOI: 10.3390/genes13061030 -
African Journal of Paediatric Surgery :... 2021Choledochal cyst is a rare malformation that mainly affects girls.
CONTEXT
Choledochal cyst is a rare malformation that mainly affects girls.
AIMS
The aim of this work is to report the diagnostic, therapeutic and evolutionary aspects of bile duct cyst in children in Dakar.
SUBJECTS AND METHODS
we conducted a prospective monocentre descriptive study from 1 July, 2016, to 30 June, 2019, in the Pediatric Surgery Department of Albert Royer Children's Hospital in Dakar. The studied parameters featured clinical, biological, radiological, therapeutic and evolutionary data. Overall, ten patients, including eight girls and two boys, were selected.
RESULTS
Two patients presented the classic triple-syndrome complex featuring an abdominal pain, an abdominal mass and jaundice. Most of the patients presented a symptomatology associating abdominal pain and vomiting. Biological cholestasis syndrome was present in six cases and biological cytolysis syndrome in five cases. The abdominal ultrasound-computed tomography (CT) scan confirmed the diagnosis and helped to set the Todani classification with a predominance of Types 1 and 4. Surgical treatment by laparotomy consisted of total excision of the cyst followed by a Y-en-Roux hepatico-jejunal anastomosis in nine cases, whereas we performed a drainage of the cyst in one case. Two patients presented a morbidity of anastomotic suture release and evisceration and had a good outcome after surgical repair. There was no mortality.
CONCLUSIONS
The diagnosis of choledochal cyst dilatation (CCD) can be suspected in the postnatal period on the basis of a gastro-intestinal symptomatology with or without associated to jaundice. The combination ultrasound-abdominal CT-scan helps set the diagnosis. The laparatomic approach always has its place for the management of CCD, especially in our context.
Topics: Child; Choledochal Cyst; Cholestasis; Female; Humans; Male; Prospective Studies; Senegal; Ultrasonography
PubMed: 34341203
DOI: 10.4103/ajps.AJPS_4_20 -
Journal of Indian Association of... 2021Choledochal cyst is a common congenital anomaly requiring surgical treatment. Nowadays, laparoscopic excision is the preferred approach. We studied a modification in the...
BACKGROUND
Choledochal cyst is a common congenital anomaly requiring surgical treatment. Nowadays, laparoscopic excision is the preferred approach. We studied a modification in the classical laparoscopic approach to facilitate the dissection of a cyst.
MATERIALS AND METHODS
A prospective comparative study was done on 42 Type I choledochal cyst children. One group was operated by classical laparoscopic technique, while the other group was operated by modification of classical technique by deliberately opening the cyst wall and dividing the cyst into two hemi-cups, followed by dissection and excision. The intraoperative and postoperative parameters were assessed in both the groups.
RESULTS
The age, gender ratio, clinical presentation, and cyst diameter were comparable in both the groups. There was a significantly higher success rate (95.7% vs. 73.7%, = 0.042) and lesser time for cyst excision (96.43 ± 12.15 vs. 120.91 ± 17.38 min < 0.001) in the modified technique when compared to the classical technique. Further in three patients, it was possible to convert the classical procedure to a modified technique and complete the cyst excision. The postoperative outcomes were similar in both the groups.
CONCLUSION
The modified laparoscopic excision shortens the operative time with higher success rate and comparable short-term morbidity vis-a-vis classical laparoscopic technique.
PubMed: 34728916
DOI: 10.4103/jiaps.JIAPS_150_20 -
Korean Journal of Radiology Feb 2022To compare the clinical and radiologic findings between perforated and non-perforated choledochal cysts in children.
OBJECTIVE
To compare the clinical and radiologic findings between perforated and non-perforated choledochal cysts in children.
MATERIALS AND METHODS
Fourteen patients (mean age ± standard deviation, 1.7 ± 1.2 years) with perforated choledochal cysts (perforated group) and 204 patients (3.6 ± 3.8 years) with non-perforated choledochal cysts (non-perforated group) were included between 2000 and 2019. All patients underwent choledochal cyst excision after ultrasound, CT, or MR cholangiopancreatography. Relevant data including demographics, clinical symptoms, laboratory findings, imaging findings, and outcomes were analyzed. Statistical differences were compared using the Mann-Whitney U test and Fisher's exact test.
RESULTS
Choledochal cyst perforation occurred only in children under the age of 4 years. Acute symptoms, including fever ( < 0.001), were more common in the perforated group than in the non-perforated group. High levels of white blood cells ( = 0.004), C-reactive protein ( < 0.001), and serum amylase ( = 0.002), and low levels of albumin ( < 0.001) were significantly associated with the perforated group. All 14 patients with perforated choledochal cysts had ascites, whereas only 16% (33/204) of patients in the non-perforated group had ascites ( < 0.001). In the subgroup of patients who had ascites, a large amount of ascites ( = 0.001), increase in the amount of ascites in a short time ( < 0.001), complex ascites ( < 0.001), and perihepatic pseudocysts ( < 0.001) were more common in the perforated group than in the non-perforated group.
CONCLUSION
Children with perforated choledochal cysts have characteristic clinical and radiologic findings compared to those with non-perforated choledochal cysts. In young children with choledochal cysts, perforation should be differentiated in cases with acute symptoms, laboratory abnormalities, and characteristic ascites findings.
Topics: Ascites; Child; Child, Preschool; Choledochal Cyst; Diagnostic Imaging; Humans; Infant; Statistics, Nonparametric; Ultrasonography
PubMed: 35029072
DOI: 10.3348/kjr.2021.0169 -
World Journal of Gastroenterology Jul 2019Choledochal cysts (CCs) are rare bile duct dilatations, intra-and/or extrahepatic, and have higher prevalence in the Asian population compared to Western populations.... (Review)
Review
Choledochal cysts (CCs) are rare bile duct dilatations, intra-and/or extrahepatic, and have higher prevalence in the Asian population compared to Western populations. Most of the current literature on CC disease originates from Asia where these entities are most prevalent. They are thought to arise from an anomalous pancreaticobiliary junction, which are congenital anomalies between pancreatic and bile ducts. Some similarities in presentation between Eastern and Western patients exist such as female predominance, however, contemporary studies suggest that Asian patients may be more symptomatic on presentation. Even though CC disease presents with an increased malignant risk reported to be more than 10% after the second decade of life in Asian patients, this risk may be overstated in Western populations. Despite this difference in cancer risk, management guidelines for all patients with CC are based predominantly on observations reported from Asia where it is recommended that all CCs should be excised out of concern for the presence or development of biliary tract cancer.
Topics: Asian People; Biliary Tract Neoplasms; Cholangiopancreatography, Endoscopic Retrograde; Choledochal Cyst; Female; Gastroenterology; Humans; Male; Practice Guidelines as Topic; Prevalence; Sex Factors; Treatment Outcome; White People
PubMed: 31341359
DOI: 10.3748/wjg.v25.i26.3334 -
Gastroenterologie Clinique Et Biologique 2010
Topics: Abdominal Pain; Adult; Cholangiography; Cholecystectomy; Choledochal Cyst; Humans; Male
PubMed: 20537486
DOI: 10.1016/j.gcb.2010.03.011 -
Human Genetics Aug 2013Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney diseases. More than 13 genes are implicated in its pathogenesis to date, accounting...
Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney diseases. More than 13 genes are implicated in its pathogenesis to date, accounting for only 40 % of all cases. High-throughput mutation screenings of large patient cohorts represent a powerful tool for diagnostics and identification of novel NPHP genes. We here performed a new high-throughput mutation analysis method to study 13 established NPHP genes (NPHP1-NPHP13) in a worldwide cohort of 1,056 patients diagnosed with NPHP-RC. We first applied multiplexed PCR-based amplification using Fluidigm Access-Array™ technology followed by barcoding and next-generation resequencing on an Illumina platform. As a result, we established the molecular diagnosis in 127/1,056 independent individuals (12.0 %) and identified a single heterozygous truncating mutation in an additional 31 individuals (2.9 %). Altogether, we detected 159 different mutations in 11 out of 13 different NPHP genes, 99 of which were novel. Phenotypically most remarkable were two patients with truncating mutations in INVS/NPHP2 who did not present as infants and did not exhibit extrarenal manifestations. In addition, we present the first case of Caroli disease due to mutations in WDR19/NPHP13 and the second case ever with a recessive mutation in GLIS2/NPHP7. This study represents the most comprehensive mutation analysis in NPHP-RC patients, identifying the largest number of novel mutations in a single study worldwide.
Topics: Adaptor Proteins, Signal Transducing; Caroli Disease; Cilia; Cohort Studies; Cytoskeletal Proteins; DNA Mutational Analysis; Female; Genes, Recessive; Global Health; High-Throughput Nucleotide Sequencing; Humans; Kidney Diseases, Cystic; Male; Membrane Proteins; Multiplex Polymerase Chain Reaction; Mutation; Pedigree; Pilot Projects
PubMed: 23559409
DOI: 10.1007/s00439-013-1297-0 -
The Indian Journal of Surgery Dec 2015Congenital cystic dilation of the biliary duct is defined as choledochal cyst (CDC). CDC presenting with the classical triad of abdominal pain, lump, and jaundice is... (Review)
Review
Congenital cystic dilation of the biliary duct is defined as choledochal cyst (CDC). CDC presenting with the classical triad of abdominal pain, lump, and jaundice is seen in only 6 % cases. Cyst excision with hepaticojejunostomy is the standard treatment worldwide. We hereby report five cases of CDC with unusual presentations (gastric outlet obstruction, cyst perforation, giant cystolithiasis, giant cyst, and mixed type) and discuss the challenges faced during the diagnosis and perioperative management of these cases.
PubMed: 27011558
DOI: 10.1007/s12262-014-1156-9