Diagnosis and treatment experience of atypical hepatic cystic echinococcosis type 1 at a tertiary center in China

BACKGROUND Some hydatid cysts of cystic echinococcosis type 1(CE1)lack well-defined cyst walls or distinctive endocysts,making them difficult to differentiate from simple hepatic cysts.AIM To investigate the diagnostic methods for atypical hepatic CE1 and the clinical efficacy of laparoscopic surgeries.METHODS The clinical data of 93 patients who had a history of visiting endemic areas of CE and were diagnosed with cystic liver lesions for the first time at the People's Hospital of Xinjiang Uygur Autonomous Region(China)from January 2018 to September 2023 were retrospectively analyzed.Clinical diagnoses were made based on findings from serum immunoglobulin tests for echinococcosis,routine abdominal ultrasound,high-frequency ultrasound,abdominal computed tomography(CT)scan,and laparoscopy.Subsequent to the treatments,these patients underwent reexaminations at the outpatient clinic until October 2023.The evaluations included the diagnostic precision of diverse examinations,the efficacy of surgical approaches,and the incidence of CE recurrence.RESULTS All 93 patients were diagnosed with simple hepatic cysts by conventional abdominal ultrasound and abdominal CT scan.Among them,16 patients were preoperatively diagnosed with atypical CE1,and 77 were diagnosed with simple hepatic cysts by high-frequency ultrasound.All the 16 patients preoperatively diagnosed with atypical CE1 underwent laparoscopy,of whom 14 patients were intraoperatively confirmed to have CE1,which was consistent with the postoperative pathological diagnosis,one patient was diagnosed with a mesothelial cyst of the liver,and the other was diagnosed with a hepatic cyst combined with local infection.Among the 77 patients who were preoperatively diagnosed with simple hepatic cysts,4 received aspiration sclerotherapy of hepatic cysts,and 19 received laparoscopic fenestration.These patients were intraoperatively diagnosed with simple hepatic cysts.During the followup period,none of the 14 patients with CE1 experienced recurrence or implantation of hydatid scolices.One of the 77 patients was finally confirmed to have CE complicated with implantation to the right intercostal space.CONCLUSION Abdominal high-frequency ultrasound can detect CE1 hydatid cysts.The laparoscopic technique serves as a more effective diagnostic and therapeutic tool for CE.

Giant complex hepatic cyst causing pseudocystitis:A case report

BACKGROUND Hepatic cysts are common benign liver tumors that are typically asymptomatic.However,larger cysts,particularly giant liver cysts,can potentially induce symptoms.If the diameter of the cyst exceeds 10 cm,it can exert pressure on adjacent organs,leading to manifestations of corresponding symptoms.Here,we report the case of a complex giant hepatic cyst that caused pseudocystitis.CASE SUMMARY A 16-year-old girl was admitted to our hospital with frequent and urgent urination.Ultrasonography revealed no obvious uterine adnexal abnormalities but showed a hypoechoic,cystic mass(173 mm×84 mm×138 mm)with clear boundaries,and an unclear blood flow signal in the abdominal cavity(extending from the lower edge of the left lobe of liver to the upper edge of the bladder).Abdominal contrast-enhanced computed tomography revealed a giant cystic mass in the abdominal and pelvic cavities,possibly originating from the liver,and a small amount of free fluid in the pelvic cavity,which subsequent magnetic resonance imaging confirmed.The imaging characteristics were consistent with a benign lesion.The patient underwent laparoscopic resection of the giant liver cyst with partial liver resection.Post-surgery her symptoms urinary symptoms were relieved completely and she was discharged on the sixth postoperative day.CONCLUSION Our patient presented with symptoms suggestive of pseudocystitis,stressing the need for considering possibilities of other etiologies and differential diagnoses.

Giant infected hepatic cyst causing exclusion pancreatitis:A case report

BACKGROUND An infected hepatic cyst causes clinical symptoms,such as fever and abdominal pain.A cyst with a diameter>10 cm increases the likelihood of exclusion symptoms in adjacent organs.Herein,we report a case of pancreatitis caused by an infected hepatic cyst.CASE SUMMARY The patient was an 88-year-old woman with a history of polycystic liver disease and a cyst>10 cm in diameter.She was referred to our hospital for upper abdominal pain that persisted for four days before consultation.She had a fever of 37.4℃,and a blood test showed a C-reactive protein level of 23 mg/dL.An infected hepatic cyst was diagnosed by abdominal ultrasonography,computed tomography,and magnetic resonance imaging.Antibacterial therapy and percutaneous cyst puncture did not elicit sufficient therapeutic effects.As the cyst growth continued,laparoscopic hepatic cyst fenestration was performed on hospitalization day 20.Thereafter,symptoms improved,and she was discharged on hospital day 31.CONCLUSION To our knowledge,this is the second case report of pancreatitis associated with hepatic cyst growth.Percutaneous cyst puncture and drainage or surgical therapy can be considered if a slight improvement with antibiotic therapy alone or exclusion of surrounding organs is observed.Further,attention is needed to avoid potential recurrence.

Laparoscopic fenestration vs open fenestration in patients with congenital hepatic cysts: A meta-analysis

AIM: To determine whether the outcomes of laparoscopic fenestration (LF) were superior to open fenestration (OF) for congenital liver cysts.METHODS: Comparative studies published between January 1991 and May 2010 on Medline (Ovid),Emsco,PubMed,Science Direct;Cochrane Reviews;CNKI;Chinese Biomedical Database,VIP and other electronic databases were searched.Randomized controlled trials (RCTs) and retrospective case-control studies on the management of congenital hepatic cysts were collected according to the pre-determined eligibility criteria to establish a literature database.Retrieval was ended in May 2010.Meta-analysis was performed using RevMan 5.0 software (Cochrane library).RESULTS: Nine retrospective case-control studies involving 657 patients,comparing LF with OF were included for the final pooled analysis.The meta-analysis results showed less operative time [mean difference (MD): -28.76,95% CI: -31.03 to 26.49,P < 0.00001];shorter hospital stay (MD: -3.35,95% CI: -4.46 to -2.24,P < 0.00001);less intraoperative blood loss (MD: -40.18,95% CI: -52.54 to -27.82,P < 0.00001);earlier return to regular diet (MD: -29.19,95% CI: -30.65 to -27.72,P < 0.00001) and activities after operation (MD: -21.85,95% CI: -31.18 to -12.51,P < 0.0001) in LF group;there was no significant difference between the two groups in postoperative complications (odds ratio: 0.99,95% CI: 0.41 to 2.38,P = 0.98) and cysts recurrence rates.CONCLUSION: The short-term outcomes of LF for patients with congenital hepatic cysts were superior to open approach,but its long-term outcomes should be verified by further RCTs and extended follow-up.

Treatment of hepatic cysts by B-ultrasound-guided radiofrequency ablation

BACKGROUND: The traditional therapy for hepatic cysts has limited success because of recrudescence. Radiofrequency ablation (RFA) has become popular because of its advantages including little damage, therapeutic effect and reduced suffering. This report describes the effects and reliability of RFA in the treatment of 29 patients with hepatic cysts. METHODS: B-ultrasound-guided REA was used to treat hepatic mono-cyst or multi-cysts of 29 patients (63 tumors). Ablative efficiency and complications were assessed by imaging and clinical symptoms. RESULTS: The tumors were abated completely in 34 cysts with a diameter <5 cm and no recurrence was seen after 3 months. In 21 cysts with a diameter of 5-10 cm, tumor volume was decreased by over 70%, then reduction and fiberosis were found. In 8 cysts with a diameter greater than 10 cm, tumor volume was decreased by more than 60%, and in 2 cysts it was increased more slightly than that at I month after REA. In subsequent follow-up (6 and 12 months after REA), tumors <10 cm in diameter were fully ablated. No significant discomfort and complications were found in any patient. CONCLUSION: RFA for the treatment of hepatic cysts is safe, and free from complications.

Hemorrhagic hepatic cysts mimicking biliary cystadenoma

The hemorrhagic simple hepatic cyst is extremely rare and can sometimes be confused with biliary cystadenoma or cystadenocarcinoma.Here we present two cases of huge hemorrhagic simple hepatic cysts. Case 1 was a 43-year-old man with a cystic lesion measuring 13 cm×12 cm in the right hepatic lobe. Ultrasound and computed tomography showed several mural nodules on the irregularly thickened wall and high-density straps inside the cyst.Case 2 was a 60-year-old woman with a huge cyst measuring 15 cm ×14 cm in the central liver.Ultrasound and magnetic resonance imaging showed the cystic wall was unevenly thickened and there were some flame-like prominences on the wall.The iconographic representations of the two cases mimicked biliary cystadenoma.Cystectomy and left hepatectomy were performed for the two patients, respectively.Both patients recovered quickly after their operations and showed no recurrence.

Giant simple hepatic cyst with multiple elevated serum tumormarkers: A case report

BACKGROUND Simple hepatic cysts are relatively common in adults, and mostly appear asasymptomatic incidental radiologic findings. Occasionally, a large cyst will causesymptoms. Elevations in the serum biomarkers protein induced by vitamin Kabsence (PIVKA)-II, cancer antigen (CA) 12-5, and CA19-9 are often associatedwith malignant tumors in the liver or bile ducts. This is the first report to describea case of hepatic cyst with elevated levels of PIVKA-II and CA12-5.CASE SUMMARY An 84-year-old Chinese woman was admitted with gradual abdominal distension.Her symptoms started 1 year ago, and she had poor appetite and a weight loss of5 kg within the past 2 wk. She denied any symptoms associated with abdominalpain, fever and chills, nausea and vomiting, etc. The abdomen was enlarged, morein the right upper quadrant, without tenderness. Laboratory examination showedsignificantly increased serum levels of PIVKA-II, CA12-5, and CA19-9. Acomputed tomography scan revealed multiple round cysts in the liver with clearboundaries. The largest cyst was 20.1 cm × 12.2 cm × 19.6 cm in size, located in theright lobe of the liver with mild dilatation of the intrahepatic bile duct, but therewas no contrast enhancement. Percutaneous drainage on the largest hepatic cystand polycinnamol sclerosing agent injection into the cyst cavity were performed.After treatment, the patient’s symptoms relieved and the elevated serum tumormakers reduced to the normal levels dramatically.CONCLUSION The present report identifies an unusual case of a giant hepatic cyst with markedelevation of serum tumor marker levels of PIVKA-II, CA12-5, and CA19-9. Aftertreatment, these three serum markers dramatically decreased to normal levels.The mechanisms for the elevation of these tumor markers may be as follows: (1) Agiant hepatic cyst compresses the liver, causing injury to the hepatocytes, whichmay lead to secretion of a large amount of PIVKA-II;and (2) Some tumorassociatedantigens, such as carcinoembryonic antigen, CA19-9, CA12-5, andCA15-3, are expressed on inflammatory cells.

Surgical management of non-parasitic hepatic cyst with biliary communication: a case report

Non-parasitic hepatic cysts with biliary communication are rare. qhe clinical symptoms involved are not specific to this condition, thereby making diagnosis difficult and treatment controversial. Here, we report a case of 70-year-old woman complaining of abdominal satiety, combined with non-specific pain in the right upper quadrant, qhe abdominal contrast-enhanced MR.I-scan revealed a large and thick-walled septus cystic lesion in the liver. During operation, the biliary fistula was confirmed in the cyst cavity. A silica gel tube was inserted via the cystic duct for cholangiography, which demonstrated communication between the cyst and biliary tract. We performed wide-scale cyst wall resection; the biliary fistula was completely repaired by the closure of communicated bile ducts. The postoperative course was uneventful, and the patient was discharged with no sign ofcholangitis or any other symptoms. The novel surgical management via wide resection of the cyst wall and closure of biliary communication proved to be an adequate and effective procedure for treating nonparasitic hepatic cysts with biliary communication.

Hepatic cyst misdiagnosed as a gastric submucosal tumor:A case report

We describe here a case of 51-year-old woman with a symptomatic hepatic cyst that was misdiagnosed as a gastric submucosal tumor (SMT) with endoscopic ultrasound (EUS) and CT scan. The patient presented with an epigastric pain for two months. On endoscopy, a submucosal tumor was found on the cardia of the stomach. Based on EUS and abdominal CT scan, the lesion was diagnosed as a gastric duplication cyst or a gastrointestinal stromal tumor (GIST). The operative plan was laparoscopic wedge resection for the GIST of the gastric cardia. A cystic mass arising from the left lateral segment of the liver was found at the laparoscopic examination. There was no abnormal finding at the gastric cardia. She was treated by laparoscopic hepatic wedge resection including the hepatic cyst using an endoscopic linear stapler.

Congenital hepatic cyst:Eleven case reports

BACKGROUND Liver cysts in infants are uncommon.With modern diagnostic imaging,we can achieve an early diagnosis of congenital hepatic cysts.Our purpose was to investigate the clinical features,surgical treatment methods and prognosis of infants with congenital hepatic cysts.Herein,we report a case series of congenital hepatic cysts.CASE SUMMARY Eleven infants with hepatic cysts were retrospectively analysed.Ten of them had simple hepatic cysts,and a girl with a large hepatic mass was diagnosed with a solitary intrahepatic biliary cyst accompanied by a choledochal cyst.Among the ten simple hepatic cysts,eight were solitary and two were multiple.A total of 87.5%(7 of 8)of infants with solitary hepatic cysts were detected before delivery,and 86%(6 of 7)of those cysts were located in the right lobe of the liver.Surgical intervention was required for symptomatic hepatic cysts.Cyst resection or unroofing with fulguration of the cyst bed was employed.No recurrence of cysts was observed in these infants.CONCLUSION Congenital hepatic cyst is a condition with a narrow differential diagnosis.Accurate diagnosis is essential for appropriate management.Unroofing is the favoured treatment in infants with symptomatic cysts.Most infants with congenital hepatic cysts have a good prognosis.

Repeated bacteremia and hepatic cyst infection lasting 3 years following pancreatoduodenectomy:A case report

BACKGROUND Simple hepatic cysts are commonly occurring lesions that are usually asymptomatic and require no treatment.Hepatic cyst infection,however,is considered a severe complication.We report a case of hepatic cyst infection following pancreatoduodenectomy with repeated fever lasting for almost 3 years,and two cysts were infected successively.CASE SUMMARY A 72-year-old woman diagnosed with adenocarcinoma of duodenal papilla underwent pancreatoduodenectomy with Child reconstruction.She then suffered repeated occurrences of bacteremia and hepatic cyst infection for 3 years.Blood cultures were positive for Klebsiella pneumoniae and Escherichia coli a total of 7 times and 4 times,respectively.During the early stage,we suspected that postoperative reflux cholangitis was the cause of fever and bacteremia.Multiple cysts were observed,so it was difficult to determine which cyst was infected.Through repeat examination,we found the focus of infection,and we treated the patient with antimicrobials and performed percutaneous cyst drainage.The patient did not experience another cyst infection for more than 4 years.CONCLUSION Biliary reconstruction inducing hepatic cyst infection is easily misdiagnosed as biliary reflux infection,Repeated imaging examination is a method for identifying the infected focus.

Percutaneous aspiration and sclerotherapy of a giant simple hepatic cyst causing obstructive jaundice:A case report and review of literature

BACKGROUND Giant simple hepatic cysts causing intrahepatic duct dilatation and obstructive jaundice are uncommon.A variety of measures with different clinical efficacies and invasiveness have been developed.Nonsurgical management,such as percutaneous aspiration and sclerotherapy,is often applied.CASE SUMMARY The case is a 39-year-old female with a 5-mo history of cutaneous and scleral icterus,loss of appetite,and dark urine.Lab tests showed jaundice and liver function abnormalities.Imaging revealed a giant simple hepatic cyst obstructing the intrahepatic bile ducts.A combination of percutaneous catheter aspiration and lauromacrogol sclerotherapy was successfully performed and the effects were satisfactory with the size of cyst decreasing from 13.7 cm×13.1 cm to 3.0 cm×3.0 cm.Further literature review presented the challenges of managing giant simple hepatic cysts that cause obstructive jaundice and compared the safety and efficacy of a combination of percutaneous aspiration and lauromacrogol sclerotherapy with other management strategies.CONCLUSION Giant simple hepatic cysts can cause obstructive jaundice,and a combination of percutaneous catheter aspiration and sclerotherapy with lauromacrogol are suggested to treat such cases.

Percutaneous aspiration and drainage with adjuvant medical therapy for treatment of hepatic hydatid cysts

AIM:To determine the efficacy and success of percutaneous aspiration irrigation and reaspiration(PAIR) in the management of hepatic hydatidosis.METHODS:Twenty-six patients with 32 hepatic hydatid cysts had PAIR.Twenty-two patients received at least 2 wk of drug therapy before the procedure was carried out to reduce the risk of recurrence from spillage during the procedure.The procedure was performed under local anesthesia with a 19-gauge 20 cm long needle,the cyst was punctured,cystic content(approximately 30 mL) was aspirated by a 12-14 F pigtail catheter and aspirated fluids were sent for analysis.Once the cyst was almost empty,two-thirds of the net amount of material aspirated was replaced by hypertonic saline and left in the cavity for about 30 min,with the catheter left in place for reaspiration of most of the fluid.When the amount of fluid drained was less than 10 mL per 24 h,the drainage catheter was removed.RESULTS:All 32 cysts showed evidence of immediate collapse after completion of the procedure,and before discharge from hospital,ultrasound examination showed fluid reaccumulation in all cysts.Serial follow-up showed a progressive decrease in the size and change in the appearance of cysts.To confirm the sterility of these cystic cavities,seven cysts were reaspirated on average 3 mo after the procedure.Investigations revealed no viable scolices.CONCLUSION:PAIR using hypertonic saline is very effective and safe with proper precautions.

Ciliated hepatic foregut cyst:an increasingly diagnosed condition

BACKGROUND:Ciliated foregut cysts of the liver are rare, with only 96 cases diagnosed since the first description in 1857.They are being increasingly diagnosed recently;the majority of the cases have been reported in the last 15 years. Although they bear a close resemblance to the simple cyst of the liver which has essentially a benign course,ciliated hepatic foregut cysts(CHFCs)can progress to malignancy with devastating consequences.It is imperative that this group of conditions be diagnosed and treated adequately. DATA SOURCES:This review includes discussion of the data from all the 96 reported cases from English and non-English literature.Analysis of the incidence rates, embryogenesis,growth,clinical features,risk of malignancy and the prognosis are highlighted systematically.The roles of various diagnostic modalities including ultrasound, CT,MRI,fine needle aspiration cytology(FNAC), immunohistochemistry and surgery are further discussed. RESULTS:The mean age of patients with CHFC was 48± 12 years.The male/female ratio was 1.1∶1.The majority of patients with CHFC(62%)were asymptomatic,and the common mode of presentation was right upper abdominal pain.The cysts occurred in the left lobe in 51 patients, with sole location in segmentⅣin 44,and in the right lobe in 26.The average size of the cysts was 3.6±2.12 cm. The majority of the cysts were unilocular,and only 7 cases were multilocular.Cyst contents were described as viscous or mucinous in 73 patients,whereas bilious fluid was noted in 3.Large cysts having squamous carcinoma were cited in 3 patients,and 2 had extensive squamous metaplasia without malignancy.Others had benign histopathology. CONCLUSIONS:Clinicians have become increasingly aware of CHFC.Imaging alone is not diagnostic per se, but when considered in the context of the global picture does provide important clues to the diagnosis.FNAC is diagnostic by the presence of the ciliated columnar aspirate but lacks sensitivity.Infantile presentation is usually accompanied by biliary communication and mandates a different surgical approach.The demonstration of malignant transformation in 3 cases and its fatal course emphasizes the need for surgical resection in all cases once the diagnosis is made.

Ciliated hepatic foregut cyst with high intra-cystic carbohydrate antigen 19-9 level

A ciliated hepatic foregut cyst (CHFC) is a rare foregut developmental malformation usually diagnosed in adulthood. Five percent of reported cases of CHFC transform into squamous cell carcinoma. We report the presentation, evaluation, and surgical management of a symptomatic 45-year-old male found to have a 6.2 cm CHFC. Contrast tomography-guided fine-needle aspiration demonstrated columnar, ciliated epithelium consistent with the histologic diagnosis of CHFC. The intracystic levels of carbohydrate antigen (CA) 19-9 and carcinoembryonic antigen (CEA) were extremely high (978118 U/mL and 973 &#x003bc;g/L, respectively). Histologically, the wall of the cyst showed characteristic pseudopapillae lined with a ciliated stratified columnar epithelium, underlying smooth muscle, an outer fibrous layer and no atypia. Immunohistochemistry for CA19-9 and CEA was positive. This is the first case report of a CHFC in which levels of CA 19-9 and CEA were measured. Our findings suggest that a large sized multilocular cyst and elevated cyst CA19-9 and CEA levels do not exclude a CHFC from consideration in the diagnosis. CHFCs should be included in the differential diagnosis of hepatic lesions. Accurate diagnosis of a CHFC is necessary given its potential for malignant transformation, and surgical excision is recommended.

Successful aspiration and ethanol sclerosis of a large,symptomatic, simple liver cyst:Case presentation and review of the literature

Simple liver cysts are congenital with a prevalence of 2.5%-4.25%. Imaging, whether by US, CT or MRI, is accurate in distinguishing simple cysts from other etiologies, including parasitic, neoplastic, duct-related, and traumatic cysts. Symptomatic simple liver cysts are rare, and the true frequency of symptoms is not known. Symptomatic simple liver cysts are predominantly large （〉 4 cm）, right-sided, and more common in women and older patients. The vast majority of simple hepatic cysts require no treatment or follow-up, though large cysts （〉 4 cm） may be followed initially with serial imaging to ensure stability. Attribution of symptoms to a large simple cyst should be undertaken with caution, after alternative diagnoses have been excluded. Aspiration may be performed to test whether symptoms are due to the cyst; however, cyst recurrence should be expected. Limited experience with both laparoscopic deroofing and aspiration, followed by instillation of a sclerosing agent has demonstrated promising results for the treatment of symptomatic cysts. Here, we describe a patient with a large, symptomatic, simple liver cyst who experienced complete resolution of symptoms following cyst drainage and alcohol ablation, and we present a comprehensive review of the literature.

Cystic tumors of the liver:A practical approach

Biliary cyst tumors(cystadenoma and cystadeno-carcinoma) are an indication for liver resection. They account for only 5% of all solitary cystic lesions of the liver,but differential diagnosis with multiloculated or complicated biliary cysts,atypical hemangiomas,hamartomas and lymphangiomas may be difficult. The most frequent challenge is to differentiate biliary cyst tumors from hemorrhagic cysts. Computerized tomography(CT) and magnetic resonance imaging(MRI) are often not diagnostic and in these cases fine needle aspiration(FNA) is used to confirm the presence of atypical biliary cells. FNA,however,lacks adequate sensitivity and specificity and should always be used in conjunction with imaging. Pre-operative differentiation of cystadenoma from cystadenocarcinoma is impossible and surgery must be performed if a biliary cyst tumor is suspected. When multiple cystic lesions are observed throughout the liver parenchyma,it is important to exclude liver metastasis,of which colonic cancer is the most common primary site. Multiple biliary hamartomas(von Meyenburg complex) can appear as a mixture of solid and cystic lesions and can be confused with cystic metastasis. Strong and uniform T2 hyperintensity on MRI is usually diagnostic,but occasionally a percutaneous biopsy may be required.

Diagnosis and management of choledochal cyst: 20 years of single center experience

We report the first case series from Africa and the Middle East on choledochal cyst, a disease which shows significant geographical distribution with high incidence in the Asian population. In this study, the epidemiological data of the patients are presented and analyzed. Attention was paid to diagnostic imaging and its accuracy in the diagnosis and classification of choledochal cyst. Most cases of choledochal cyst disease have type&#x02005;I&#x02005;and IV-A cysts according to the Todani classification system, which support the etiological theories of choledochal cyst, especially Babbitt&#x02019;s theory of the anomalous pancreaticobiliary duct junction, which are clearly stated. The difficulties and hazards of surgical management and methods used to avoid operative complications are clarified. Early and late postoperative complications are also included. This study should be followed by multicenter studies throughout Egypt to help assess the incidence of choledochal cysts in one of the largest populations in Africa and the Middle East.

Factors that influence outcome in non-invasive and invasive treatment in polycystic liver disease patients

AIM: To evaluate the factors that influence outcome of both non-invasive and invasive treatment of polycystic liver disease. METHODS: Analysis of clinical files of patients with complete follow-up from July 1986 to June 2006. RESULTS: Forty-one patients (male, 7; female, 34), 47.8 ± 11.9 years age, and 5.7 ± 6.7 years follow-up, were studied. Alkaline phosphatase (AP) elevation (15% of patients) was associated with the requirement of invasive treatment (IT, P = 0.005). IT rate was higher in symptomatic than non-symptomatic patients (65.4% vs 14.3%, P = 0.002), and in women taking hormonal replacement therapy (HRT) (P = 0.001). Cysts complications (CC) were more frequent (22%) in the symptomatic patients group (P = 0.023). Patients with body mass index (BMI) > 25 (59%) had a trend to complications after IT (P = 0.075). Abdominal pain was the most common symptom (56%) and indication for IT (78%). Nineteen patients (46%) required a first IT: 12 open fenestration (OF), 4 laparoscopic fenestration (LF) and 3 fenestration with hepatic resection (FHR). Three required a second IT, and one required a third procedure. Complications due to first IT were found in 32% (OF 16.7%, LF 25%, FHR 66.7%), and in thesecond IT in 66.7% (OF 100%). Follow-up mortality rate was 0. CONCLUSION: Presence of symptoms, elevated AP, and CC are associated with IT requirement. HRT is associated with presence of symptoms and IT requirement. Patients with BMI > 25 have a trend be susceptible to IT complications. The proportions of complications are higher in FHR and second IT groups. RS is more frequent after OF.

Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation

Polycystic liver disease (PLD) is characterized by the presence of multiple bile duct-derived epithelial cysts scattered in the liver parenchyma. PLD can manifest itself in patients with severe autosomal dominant polycystic kidney disease (ADPKD). Isolated autosomal dominant polycystic liver disease (ADPLD) is genetically distinct from PLD associated with ADPKD, although it may have similar pathogenesis and clinical manifestations.Recently, mutations in two causative genes for ADPLD,independently from ADPKD, have been identified. We report here a family (a mother and her daughter) with a severe form of ADPLD not associated with ADPKD produced by a novel missense protein kinase C substrate 80K-H (PRKCSH) mutation (R281W). This mutation causes a severe phenotype, since the two affected subjects manifested signs of portal hypertension. Doppler sonography, computed tomography (CT) and magnetic resonance (MR) imaging are effective in documenting the underlying lesions in a non-invasive way.