Crigler-Najjar syndrome (CNS) and Gilbert syndrome (GS; OMIM: 143500) are rare autosomal recessive diseases that cause unconjugated hyperbilirubinemia due to decreased UGT1A1 enzyme activity. Crigler-Najjar syndrome type 2 (CNS2; OMIM: 606785) increases the risk of gallbladder stone formation and cholecystitis, while GS seldom causes health issues. We found a 28-year-old male patient with recurring right upper abdomen pain who experienced persistent jaundice from birth. CNS2 with gallbladder stones and cholecystitis was diagnosed after genetic testing revealed rare double homozygous mutations A(TA)₇TAA (rs3064744) and P229Q (rs35350960) in the UGT1A1 gene. After pedigree investigation, we found that the patient's parents with modestly increased bilirubin had compound heterozygous mutations A(TA)₇TAA and P229Q, which were GS. Bioinformatics analysis showed that A(TA)₇TAA is in the TATA-box region of the gene UGT1A1 promoter, affecting gene transcriptional initiation, whereas P229Q modifies protein three-dimensional structure and may be harmful. In this pedigree, double homozygous mutations have a more severe phenotype than compound heterozygous mutations. Inherited causes of hyperbilirubinemia should be suspected after ruling out biliary obstruction, and early bilirubin reduction (< 103 µmol/L (6 mg/dL)) may reduce the risk of complications like cholecystitis in CNS2 patients, though further studies with longer follow-up are needed to confirm this observation.
Humans ; Male ; Glucuronosyltransferase/genetics* ; Adult ; Crigler-Najjar Syndrome/complications* ; Cholecystitis/etiology* ; Homozygote ; Mutation ; Pedigree

BACKGROUND

Gastric outlet obstruction (GOO) results from intrinsic and extrinsic obstruction of the pyloric channel or the duodenum. Here we present a rare case of GOO attributed to dense adhesions between the gallbladder and duodenum secondary to chronic cholecystitis with choledococystoduodenal fistula formation. Previous reports identified elderly females with comorbidities as a predisposing factor; however, our patient was an immunocompetent adult male.

A 43-year-old male with no comorbidities consulted for recurrent epigastric pain, vomiting and weight loss. On contrast enhanced abdominal CT scan, a lamellated cholelithiasis with pneumobilia and an irregular thickening at the proximal duodenum with subsequent GOO was identified. A choledococystoduodenal fistula was considered. Exploratory laparotomy revealed extensive fibrosis and cholecystitis with dense adhesions to surrounding structures. Dissection revealed a gallstone impacted in and adherent to the wall of the gallbladder and a fistula opening into the duodenum. However, there was no definite evidence of impacted gallstone in the duodenum. The dense adhesions secondary to chronic cholecystitis caused duodenal narrowing and subsequent GOO. He eventually underwent antrectomy, pancreatic sparing, total duodenectomy, cholecystectomy, with loop gastrojejunostomy, cholecystojejunostomy and pancreaticojejunostomy. Biopsy specimens taken were negative for malignancy. He was discharged subsequently. However, he was readmitted after five months due to acute abdomen secondary to small bowel rupture, likely from a marginal ulcer.

This case highlights that preoperative and intraoperative differential diagnosis of GOO is a challenge. Chronic calculous cholecystitis through severe inflammation can present as a rare cause of GOO. Optimal treasaFtment plan should take into consideration the underlying etiology of the GOO.

Gangrenous cholecystitis is a kind of acute cholecystitis, whose course of disease progresses rapidly, early diagnosis is difficult and mortality is high, and clinicians are prone to misdiagnosis and missed diagnosis in clinical work.However, gangrenous cholecystitis has been ignored in various guidelines.This paper systematically summarized the pathogenesis, pathological manifestations, epidemiology, clinical diagnosis and treatment of gangrenous cholecystitis, hoping to provide a complete and clear diagnosis and treatment process for clinicians.
Cholecystectomy ; Cholecystitis/surgery* ; Cholecystitis, Acute/surgery* ; Gangrene/surgery* ; Humans

Endobiliary radiofrequency ablation (RFA) is a procedure performed widely to induce locoregional tumor control by the transfer of thermal energy to the lesion and subsequent tumor necrosis. A 72-year-old male with a prior history of acute calculous cholangitis and perforated cholecystitis was admitted to the Kyungpook National University Hospital complaining of fever and nausea. He had an indwelling percutaneous transhepatic gallbladder drainage (PTGBD) catheter from the previous episode of perforated cholecystitis. An abdominal CT scan showed marked dilation of both the intrahepatic and extrahepatic bile ducts. Common bile duct cancer was confirmed histologically after an endobiliary biopsy. A surgical resection was considered to be the initial treatment option. During open surgery, multiple metastatic nodules were present in the small bowel mesentery and anterior abdominal wall. Resection of the tumor was not feasible, so endobiliary RFA was performed prior to biliary stenting. Cholecystectomy was required for the removal of the PTGBD catheter, but the surgical procedure could not be performed due to a cystic ductal invasion of the tumor. Instead, chemical ablation of the gallbladder (GB) with pure ethanol was performed to breakdown the GB mucosa. Palliative treatment for a biliary obstruction was achieved successfully using these procedures. In addition, a PTGBD catheter was removed successfully without significant side effects. As a result, an improvement in the patient's quality of life was accomplished.
Abdominal Wall ; Aged ; Bile Ducts, Extrahepatic ; Biopsy ; Catheter Ablation ; Catheters ; Cholangiocarcinoma ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis ; Cholecystectomy ; Cholecystitis ; Common Bile Duct ; Cystic Duct ; Drainage ; Ethanol ; Fever ; Gallbladder ; Gyeongsangbuk-do ; Humans ; Male ; Mesentery ; Mucous Membrane ; Nausea ; Necrosis ; Palliative Care ; Quality of Life ; Stents ; Tomography, X-Ray Computed

A 64-year-old man was treated with sunitinib as a first-line therapy for metastatic renal cell carcinoma. He was given oral sunitinib in cycles of 50 mg once daily for 2 weeks followed by a week off. During the 5th week of treatment right upper quadrant pain developed, but this resolved spontaneously during the 6th week (off treatment). However, on the 8th week of treatment, he was admitted to hospital because the acute right upper quadrant pain recurred with nausea, vomiting, and fever. Acute acalculous cholecystitis was then diagnosed by ultrasonography and CT. In addition, his laboratory findings indicated disseminated intravascular coagulation. Accordingly, sunitinib therapy was discontinued and broad-spectrum antibiotics initiated. He subsequently recovered after emergent percutaneous cholecystostomy. His Naranjo Adverse Drug Reaction Probability Scale score was 7, indicaing a probable association of the event with sunitinib. Suspicion of sunitinib-related acute cholecystitis is required, because, although uncommon, it can be life-threatening.
Acalculous Cholecystitis ; Anti-Bacterial Agents ; Carcinoma, Renal Cell ; Cholecystitis, Acute ; Cholecystostomy ; Disseminated Intravascular Coagulation ; Drug-Related Side Effects and Adverse Reactions ; Fever ; Humans ; Middle Aged ; Nausea ; Ultrasonography ; Vomiting

BACKGROUND/AIMS: Gallstone disease (GSD) is a common gastrointestinal disorder. Clinical epidemiological studies revealed that alcohol consumption has a preventive effect on the development of GSD. This study aimed to evaluate the relative risks of drinking for GSD development and investigate the dose-response relationships. METHODS: A systematic search of the MEDLINE, EMBASE, and Cochrane Library databases for studies published up to 2018 was performed. All studies that satisfied the following eligibility criteria were included: patients with GSD with or without cholecystitis; and cohort or case-control studies investigating the association between alcohol consumption and GSD development. RESULTS: Sixteen case-control studies including 24,401 gallstone cases and 76,185 controls, and eight cohort studies with 14,693 GSD cases among 2,432,471 person-years were enrolled. Alcohol consumption presented a decreased overall risk of GSD (pooled relative ratio [RR], 0.84; 95% confidence interval [CI], 0.79 to 0.89; p=0.02). Subgroup analyses according to drinking levels indicated a gradual risk reduction for GSD compared to nondrinkers (light: RR, 0.96; 95% CI, 0.94 to 0.99; p=0.75; moderate: RR, 0.80; 95% CI, 0.75 to 0.85; p=0.27; high: RR, 0.66; 95% CI, 0.56 to 0.79; p < 0.01). A nonlinear risk reduction was observed in a dose-response meta-analysis of all the studies (n=14, p < 0.01 for nonlinearity). CONCLUSIONS: In this systematic review with meta-analysis, alcohol consumption could decrease the risk of GSD, and the dose-response analysis revealed a dose-dependent linear risk reduction and a weakened linear trend between alcohol consumption levels less than and greater than 28 g/day.
Alcohol Drinking* ; Case-Control Studies* ; Cholecystitis ; Cohort Studies* ; Drinking ; Epidemiologic Studies ; Gallstones* ; Humans ; Risk Reduction Behavior

BACKGROUND: Because acute cholecystitis in elderly hip fracture is not easily distinguishable from other gastrointestinal symptoms and involves atypical clinical behaviors, it may not be diagnosed in the early stage. However, the exact incidences could not be reported. We utilized data from a nationwide claims database and attempted to assess the incidence of acute cholecystitis in elderly hip fracture patients and how cholecystitis affects mortality rates after hip fracture. METHODS: Study subjects were from the Korean National Health Insurance Service-Senior cohort. From a population of approximately 5.5 million Korean enrollees > 60 years of age in 2002, a total of 588,147 participants were randomly selected using 10% simple random sampling. The subjects included in this study were those who were over 65 years old and underwent surgery for hip fractures. RESULTS: A total of 15,210 patients were enrolled in the cohort as hip fracture patients. There were 7,888 cases (51.9%) of femoral neck fracture and 7,443 (48.9%) cases of hemiarthroplasty. Thirty-six patients developed acute cholecystitis within 30 days after the index date (30-day cumulative incidence, 0.24%). Four of the 36 acute cholecystitis patients (11.1%) died within 30 days versus 2.92% of patients without acute cholecystitis. In the multivariate-adjusted Poisson regression model, hip fracture patients with incident acute cholecystitis were 4.35 (adjusted risk ratio 4.35; 95% confidence interval, 1.66–11.37; P = 0.003) times more likely to die within 30 days than those without acute cholecystitis. CONCLUSION: Incidence of acute cholecystitis in elderly patients after hip fracture within 30 days after the index date was 0.24%. Acute cholecystitis in elderly hip fracture patients dramatically increases the 30-day mortality rate by 4.35-fold. Therefore, early disease detection and management are crucial for patients.
Abdominal Pain ; Aged ; Cholecystitis ; Cholecystitis, Acute ; Cohort Studies ; Femoral Neck Fractures ; Hemiarthroplasty ; Hip Fractures ; Hip ; Humans ; Incidence ; Mortality ; National Health Programs ; Odds Ratio

The use and application of a laparoscopic cholecystectomy has been regarded as a first-choice treatment option for benign gallbladder disease, even if patients have situs inversus totalis. Furthermore, surgical procedures in general are becoming less invasive, because of both patient and surgeon preferences for reduced trauma and improved cosmetic outcomes attributable to minimized incisions. A 37 years old man was aware of situs inversus totalis with chronic cholecystitis. The operation was successfully performed without any specific complications. Single port laparoscopic cholecystectomy, in an experienced operator, is possible even in patients with situs inversus totalis.
Cholecystectomy, Laparoscopic ; Cholecystitis ; Gallbladder Diseases ; Humans ; Situs Inversus

A 59-year-old woman presented with abdominal pain. Abdominal computerized tomography was suggestive of biliary stones. During endoscopic retrograde cholangiopancreatography, adult worms resembling Clonorchis sinensis (C. sinensis) were drained. Eggs were detected in stool using the formalin-ether concentration method and C. sinensis-specific antibody was detected in the serum. A diagnosis of C. sinensis infection was made. The symptoms of the patient gradually resolved after treatment with anti-parasite medication. The patient lived in a non-endemic region for C. sinensis infection and had no history of intake of raw or undercooked freshwater fishes. South Korea is one of the endemic countries for C. sinensis infection and people can be infected via indirect routes of transmission such as cooking utensils. Therefore, the possibility of C. sinensis infection should be considered in patients presenting with biliary diseases in South Korea. We describe the clinical findings of this case with a review of literature.
Abdominal Pain ; Adult ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis ; Cholecystitis ; Cholecystitis, Acute ; Clonorchis sinensis ; Cooking and Eating Utensils ; Diagnosis ; Eggs ; Female ; Fishes ; Fresh Water ; Humans ; Korea ; Methods ; Middle Aged ; Ovum

Sex and gender medicine investigates the impact of sex and gender differences on normal conditions, pathogenesis, and clinical features of diseases. By considering sex and gender differences during diagnosis, treatment and prevention, a person can receive the best individualized treatment based on scientific evidence. In this review, sex and gender differences in the field of pancreatobiliary diseases are described regarding gallstones, acute cholecystitis, acute and chronic pancreatitis, and cancers of the pancreas and biliary tract. In addition, recent policy on clinical and preclinical research which states that sex and gender analysis should be included during planning, conducting, and interpretation of the researches and websites containing resources about sex and gender medicine are introduced. This review highlights the importance of considering sex and gender aspect in research, clinics, and medical education.
Biliary Tract ; Cholecystitis, Acute ; Diagnosis ; Education, Medical ; Gallstones ; Humans ; Pancreas ; Pancreatitis, Chronic