Gallbladder Agenesis Research Articles

Gallbladder agenesis (GBA) is an extremely rare disease that mimics biliary pathology. More frequent in women, it can occur alone or associated with other malformations. We present the case of a 53-year-old female patient with clinical symptoms compatible with cholelithiasis, with ultrasound reports of scleroatrophic gallbladder. Elective laparoscopic cholecystectomy was performed, with no gallbladder found, and intraoperative cholangiography was performed with the same results. Postoperative magnetic resonance cholangiography confirmed gallbladder agenesis. Finally, the postoperative course was adequate, without complications. GBA commonly presents with typical symptoms of biliary colic and ultrasound diagnosis of cholelithiasis or scleroatrophic gallbladder. Preoperative diagnosis is unlikely. If surgery is performed, laparoscopic examination is preferable. Subsequently, the evolution is generally asymptomatic.

Pathogenic variants in GATA6, GATA4 and PDX1 cause pancreatic hypoplasia (PH) or agenesis and early onset diabetes mellitus. There is a lack of information about long-term outcomes and clinical management of these complicated patients, including how best to approach their exocrine pancreatic insufficiency (EPI), weight gain, and glycemic management. We investigated clinical features and treatment of patients with pathogenic variants in GATA6, GATA4, and PDX1 identified through the US Monogenic Diabetes Registry. Data were self-reported or extracted from medical records. Eleven children were studied. Pancreatic hypoplasia/agenesis, EPI, gallbladder agenesis, and congenital heart defects were common in this cohort. Novel features were present, such as recurrent infections and epilepsy. All participants were born small for gestational age (SGA) and many had difficulties with weight gain. Insulin treatment was discontinued and later reinstated for three infants. Glycemic control in nearly all patients was sub-optimal with the mean HbA1c being 8.7, but only one episode of diabetic ketoacidosis (DKA) was reported. Fasting and postprandial hypoglycemia were common. Eight of eleven children required pancreatic enzymes. Two children required enteral feedings to maintain nutritional balance. Children with pathogenic variants in GATA6, GATA4, and PDX1 have labile, insulin-dependent diabetes mellitus and varying degrees of EPI caused by pancreatic hypoplasia/agenesis. Intrauterine growth restriction and postnatal difficulties with weight gain are common but rates of DKA are low, which may in part be due to a lack of glucagon, an important driver of ketosis.

ObjectiveTo evaluate the postnatal outcomes of referred cases with abnormal findings in the fetal gallbladder (GB) or cysts in the fetal liver.MethodsThis retrospective study included pregnant women referred to a tertiary referral unit, the fetal therapy center at Ulsan Asan Medical Center in Korea, between June 2005 and October 2022. Persistent non-visualization of the fetal gallbladder (NVFGB) was defined as non-visualization at least twice using an ultrasound scan. Antenatal ultrasound findings were obtained from the medical records, and the clinical, radiological, and surgical findings of the babies were reviewed.ResultsA total of 113 referred patients were evaluated. Most enlarged and small GBs were identified as normal or GB stones, sludge, septate GB, or choledochal cysts (CDC). NVFGB was identified postnatally in 77.5% of cases. Persistent NVFGB was identified postnatally as biliary atresia (3/14; 21.4%), hepatic parenchymal disease with cholestasis (2/14; 14.2%), or isolated GB agenesis (6/14; 42.8%). The majority of cysts in the fetal liver cases with visualization of the fetal GB were identified as CDC. Half of the patients (2/4) with CDC who underwent NVFGB were confirmed to have biliary atresia.ConclusionExcept for persistent NVFGB, most abnormal ultrasound findings in fetal GB were associated with good postnatal outcomes. Cysts in the fetal liver with visualization of the fetal GB did not result in serious adverse outcomes. NVFGB, especially persistent NVFGB with or without cysts in the fetal liver, should be followed up closely prenatally and postnatally.

To explore the predictive potential of prenatal ultrasound features and their capacity to differentiate biliary atresia (BA) in fetuses exhibiting biliary abnormalities. Data of pregnant women who underwent routine fetal ultrasound screening during the second trimester (18-27+6weeks) were retrospectively analyzed in the 2018-2022 period. Fetuses with suspected biliary abnormalities in the second trimester were identified, and the cases were categorized into 5 groups: enlarged fetal gallbladder, small fetal gallbladder, non-visualized fetal gallbladder, hepatic hilar cyst, and fetal duplicated gallbladder. Follow-up assessments were conducted in the third trimester and postnatally. Among the 339 cases with suspected fetal biliary abnormalities, 10 cases were postnatally diagnosed with BA. Among them, 2 cases (2.04%, 2/98) were in the small fetal gallbladder group, 3 cases (3.95%, 3/76) were in the non-visualized fetal gallbladder group, and 5 cases (20.83%, 5/24) were in the hepatic hilar cyst group. In the small fetal gallbladder, non-visualized fetal gallbladder, and total suspected fetal biliary abnormalities groups, the incidence of BA increased when accompanied by additional structural abnormalities compared with isolated cases (all p<0.05). Within the small fetal gallbladder and non-visualized fetal gallbladder groups, a consistent feature associated with BA and gallbladder agenesis was the persistence of abnormal gallbladder size despite increasing gestational age. In the group with hepatic hilar cysts, significant prenatal differences between cystic BA and biliary dilatation were observed in cyst morphology, maximum diameter, changes in cyst size with gestational age, and fetal gallbladder size (p<0.05). Cyst morphology, maximum diameter, and gallbladder size demonstrated potential in differentiating cystic BA from biliary dilatation. The combination of these three features achieved a sensitivity of 100% and a specificity of 94.7%. Persistent small or non-visualized fetal gallbladder, along with specific hepatic hilar cyst and other structural abnormalities, are crucial prenatal ultrasound findings for early diagnosis of BA. Early and repeated assessments, incorporating multi-feature observations, are essential for improving differential diagnosis and enhancing optimal outcomes.

Abstract Gall bladder agenesis and ductal plate malformation (DPM) are rarely diagnosed hepatobiliary anomalies in dogs. This case report documents the clinical findings, diagnostic test results and outcome in a 3.5‐year‐old female Rottweiler with gall bladder agenesis associated with DPM. The dog was presented with a 2‐week history of diarrhoea and vomiting. Biochemical test results were consistent with hepatopathy. Abdominal ultrasound revealed absence of a gall bladder, ascites and asymmetrically small liver lobes with irregular contours and a heterogeneous but overall increased echogenicity. Explorative laparotomy confirmed the absence of a gall bladder and small‐sized liver lobes with a very irregular surface and firm consistency. Histological examination of liver biopsies showed severe portal‐to‐portal bridging fibrosis, tortuous and multifocally ectatic bile duct profiles, multifocal absence of portal veins, increased arteriolar profiles, direct intersection of bile ducts with hepatocytes and lymphangiectasia with minimal periportal inflammation, consistent with DPM. The dog developed hepatic encephalopathy and was euthanased.

Two Rare Conditions in One: A Case of Gallbladder Agenesis in a Patient With Type I Choledochal Cyst.

Background: Gallbladder agenesis (GA) is an uncommon congenital condition defined by the absence of the gallbladder and cystic duct resulting from an anomaly in embryonic development. It is often linked with other congenital anomalies, but an isolated variant is very infrequent. Basic procedures/main findings:The clinical presentation is diverse. In fact, GA is often diagnosed incidentally. Magnetic resonance cholangiopancreatography (MRCP) is regarded as the preferred diagnostic approach, since it circumvents needless and risky surgical procedures in symptomatic patients. This report presents a case of gallbladder agenesis incidentally identified during surgery in a 29-year-old patient. Conclusions: Although GA is uncommon, clinical awareness of the disorder facilitates accurate preoperative diagnosis and thereby reduces morbidities associated with unnecessary surgical exploration.

The nonvisualization of the fetal gallbladder (NVFGB) is a rare finding, occurring in approximately 0.1% of pregnancies. The NVFGB may be classified as either isolated or nonisolated, depending on whether it occurs in conjunction with additional anomalies. A retrospective study, conducted from January 2016 to May 2022 was designed to evaluate the clinical features, management and prognosis of NVFGB. Thirteen cases were referred to the prenatal diagnostic center. The cases were classified as two that were isolated and 11 were nonisolated. In isolated cases, chromosomal analysis and genetic testing for common CFTR (cystic fibrosis transmembrane conductance regulator) mutations yielded normal results, and isolated gallbladder agenesis was confirmed postnatally. In the nonisolated group, two cases were diagnosed with cystic fibrosis (CF) and one with Williams syndrome. Of the 11 nonisolated cases, ten resulted in termination of pregnancy (TOP), while in one case, the gallbladder was observed at 24-week gestation. Prenatal management of NVFGB remains a significant challenge. Its prognosis is closely related to the presence of other abnormalities. CF plays a significant role when gastrointestinal anomalies are detected. When isolated, once CF and chromosomal abnormalities are excluded, NVFGB is generally considered a benign condition.

Heterozygotic GATA6 mutations are responsible for various congenital diseases in the heart, pancreas, liver, and other organs in humans. However, there is lack of an animal that can comprehensively model these diseases since GATA6 is essential for early embryogenesis. Here, we report the establishment of a gata6 knockout zebrafish which recapitulates most of the symptoms in patients with GATA6 mutations, including cardiac outflow tract defects, pancreatic hypoplasia/agenesis, gallbladder agenesis, and various liver diseases. Particularly in the liver, the zebrafish gata6 model exhibits the paucity of intrahepatic bile ducts, disrupted bile canaliculi, cholestasis, resembling the liver diseases associated with GATA6 mutations. Moreover, an unreported phenotype, hepatic cysts, has been also revealed in the model. Mechanistically, Gata6 interacts with Hhex and binds lrh-1 promoter to synergistically activate its expression, thereby enhancing the Lrh-1-mediated β-catenin signaling which is essential for liver development. This transcriptional activation of lrh-1 is tightly controlled by the negative feedback, in which Lrh1 interacts with Gata6 to weaken its transactivation ability. Moreover, Gata6 level is regulated by Hhex-mediated proteasomal degradation. The orchestration by these three transcription factors precisely modulates Gata6 activity, ensuring β-catenin signaling output and proper liver development in zebrafish. Importantly, the molecular mechanism identified in zebrafish is conserved in human cells. GATA6 mutant variants associated with hepatobiliary malformations in humans interact aberrantly with HHEX, resulting in subsequent impairments of LRH-1 activation. Conclusively, the disease model established here provides both phenotypic and mechanism insights into the human hepatic diseases associated with GATA6 mutations.

The objective of this study was to investigate the ultrasonographic characteristics and outcomes of fetuses with atypical and non-visualized fetal gallbladder in our tertiary care hospital. A retrospective analysis was conducted on cases in which the fetal gallbladder was not visualized or exhibited atypical characteristics at our institution over a four-year period. The patients were divided into two groups: absent gallbladder and atypical gallbladder. The groups with isolated and additional anomalies were analyzed according to their ante- and postnatal characteristics. The study comprised 78 patients (37 absent, 41 atypical gallbladder). In the isolated fetal absence of gallbladder group, the gallbladder was visualized in three of 13 patients during antenatal ultrasonographic follow-up and in half of the remaining 10 patients during postnatal follow-up. In the postnatal period, five newborns with absent isolated gallbladder are being followed up with suspicion of biliary atresia and isolated gallbladder agenesis. In the absence of a gallbladder with an additional anomaly group, 58% of fetuses died during the intrauterine and neonatal period. Fetuses in the isolated atypical gallbladder group are being followed as healthy after birth. Pregnancies with atypical gallbladder appearance and additional anomalies resulted in 33% neonatal death, 12% intrauterine demise, and 25% termination of pregnancy. In instances where the fetal gallbladder is not consistently discernible, it is imperative to exercise caution with regard to the possibility of biliary atresia. In the event that the fetal gallbladder exhibits unusual characteristics, a meticulous examination for the presence of additional anomalies is recommended.

Agenesis of the gallbladder is a rare congenital anomaly. The aim of this study is to explore, through the case we present, the epidemiological aspects of this anomaly as well as the specificities of diagnosis and therapeutic management. The patient is a 35-year-old individual with no significant medical history, who presented with hepatic colic and an ultrasound showing a sclerotic and atrophic gallbladder. A laparoscopic cholecystectomy was indicated. Intraoperatively, the gallbladder was not visualized, even after examining various ectopic sites for the gallbladder.

Gallbladder agenesis: case report

Gallbladder agenesis is a rare, little-recognized congenital anomaly, presenting in the form of hepatic colic in 23% of patients. The ultrasound assessment often describes a scleroatrophic vesicle, which can lead to unnecessary and potentially dangerous surgery. We report the case of a 64-year-old man, with no history of cholecystitis, presenting with hepatic colic and whose ultrasound diagnosis of scleroatrophic vesicle was questioned. patient was operated on by the traditional route for gallbladder lithiasis. The absence of a gallbladder was discovered intraoperatively. In order to confirm the diagnosis postoperatively, we performed magnetic resonance imaging (cholangio-MRI) which made the diagnosis of agenesis of the gallbladder.

The aim was to disseminate information about gallbladder agenesis and its association with some congenital malformations, in this case, with dextrocardia. The case report of a patient with dextrocardia and diagnosis of cholecystolithiasis (by ultrasound) who presented with agenesis of the gallbladder is presented. The patient was scheduled for laparoscopic cholecystectomy, however, during the surgical procedure, the absence of a gallbladder was evident. Gallbladder agenesis is a rare anatomical variant and its association with cardiac malformations in adult patients is uncommon.

Abstract Introduction Agenesis of the gallbladder is a rare abnormality with an incidence of 0.01-0.06%. Although patients are asymptomatic, half of them can present with abdominal pain, particularly biliary colic. Women are affected more than men with a likelihood ratio of 3:1. Case This is a case of a 50-year-old lady who presented with recurrent symptoms and signs of biliary colic type pain. All her routine bloods including inflammatory markers, Liver Function Test and amylase were within normal limits. A combination of Transabdominal ultrasound (USG), CT scan, MRCP, HIDA scans concluded gallbladder agenesis without extrahepatic biliary atresia. Currently, she is being managed conservatively with analgesia and antispasmodics. She is undergoing investigations like gastroscopy to rule out other causes of her symptoms. She has been referred to tertiary centre for Endoscopic USG and Sphincter of Oddi (SOD) Manometry. Discussion It is interesting to see how such a rare condition presents with a typical biliary symptom. However, diagnosis begins by ruling out any structural causes for the pain with radiological investigations as mentioned above including endoscopic USG, ERCP and analysis of bile for crystals. Finally, SOD manometry performed to rule out any SOD dysfunction which also can present with similar symptoms. A combination of antispasmodic and simple analgesia is effective for management of symptoms. Conclusions Biliary colic symptoms are common with gallbladder agenesis. MRCP is effective investigation for diagnosis. Antispasmodic medication and simple analgesia are the treatment of choice.

Abstract Gallbladder agenesis (GA) is a congenital anomaly of the biliary system, with characteristic absence of the gallbladder and cystic duct often with variable clinical presentation. Despite major advances in imaging technology many patients undergo unnecessary operative interventions during which the diagnosis is made. Very little is known on the management and outcomes in this patient population. Therefore, the main objective of this study protocol is to guide a comprehensive review of published cases of GA to evaluate and synthesize research findings on its presentation, management and clinical outcomes. This systematic review will be conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Protocols guidelines. MEDLINE, via PubMed, EMBASE, SCOPUS and Google Scholar will be searched for articles on GA in humans (case report and case series) published before 1 October 2022 in English, French and Spanish. Two independent investigators will review each article, determine if it meets inclusion criteria, extract data and assess the study quality. A third investigator will arbitrate studies where there are conflicts between the first two investigators. Short and long-term outcomes will be compared between cases that underwent non-operative versus open versus laparoscopic surgery. Estimates will be made of odds ratios for dichotomous outcomes.

Gallbladder agenesis misdiagnosed as a chronic cholecystitis

Gallbladder agenesis represents the 0.01-0.04% of congenital anomalies (0.016 in autopsies). Patient become symptomatic in over the 20% of cases with false-positive imaging of cholelithiasis on ultrasound examination that leads to elective laparoscopic cholecystectomy.

Abstract A 17‐month‐old, male, crossbreed dog was presented with anorexia and vomiting. Biochemistry revealed a severe increase of liver parameters with unremarkable haematology results. Abdominal ultrasound showed microhepatia and absence of gall bladder. Laparoscopic exploration and computed tomography scan confirmed the ultrasound findings. Histopathology of the liver showed multiple changes compatible with a possible ductal plate malformation. One and a half months after the discharge being on a low‐fat diet, S‐adenosylmethionine and antiemetics blood work showed a decrease in alanine transferase, alkaline phosphatase and gamma‐glutamyl transpeptidases. Nevertheless, the patient continued vomiting intermittently despite the treatment.

Agenesis of the gallbladder is a rare congenital malformation caused by the failure of the cystic bud to develop in the gallbladder, which may or may not be associated with other biliary malformations. It is an anomaly of variable symptomatology, with 50% of patients presenting symptoms mimicking biliary colic; it may be discovered by chance during surgery, while 15% may present fatal fetal malformations. When symptomatic, it is interpreted as chronic cholecystitis, with a narrowed appearance of the gallbladder on abdominal ultrasound, as the biliary structures may resemble those of a gallbladder, demonstrating the need for radiologists and surgeons to be aware of this diagnosis and its management, in order to avoid unnecessary surgery. In this article, we present a case of gallbladder agenesis in a young man who presented with hepatic colic-like symptoms suggestive of cholecystitis. The gallbladder was not well visualized on ultrasound, simulating chronic cholecystitis, and a Bili MRI concluded that the gallbladder was absent, thus avoiding surgery.