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Polycystic liver diseases (PLD) represent a group of genetic disorders in which cysts occur in the liver (autosomal dominant polycystic liver disease) or in combination with cysts in the kidneys (autosomal dominant polycystic kidney disease). Regardless of the genetic mutations, the natural history of these disorders is alike. The natural history o...
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Context 1
... symptoms include abdominal distention, early satiety that can lead to decreased oral intake and severe malnutrition, gastro-esophageal reflux, dyspnea, hepatic venous-out- flow obstruction (Budd-Chiari syndrome), inferior vena cava syndrome, portal-vein and bile-duct compression. Complications of liver cysts include infections, torsions, rupture and hemorrhage [1,18,33,34] (Table 3). In asymptom- atic patients, serum laboratory studies are usually normal. ...
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Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder, which is caused by mutations in the PKD1 and PKD2 genes, characterizing by progressive growth of multiple cysts in the kidneys, eventually leading to end-stage kidney disease (ESKD) and requiring renal replacement therapy. In addition, studies indicate that disease progress...
Berenice Reed-Gitomer Division of Renal Diseases and Hypertension, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is the most common potentially lethal genetic disorder, accounting for 2%–8% of end-stage renal disease worldwide. While development...
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Background and objectives:
For patients with end-stage renal disease (ESRD), the best replacement therapy is renal transplant (RTx) to ensure life with good quality. Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder and a common cause of ESRD. Different from ESRD of other causes, ADPKD patients need careful pre-RTx evaluat...
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Citations
... This disorder affects 6-15% of women worldwide [1]. Because the clinical manifestations of PCOS, the frequency of obesity, insulin resistance (IR), and the prevalence of type 2 diabetes vary depending on race and ethnicity, differences in the reported prevalence among the different populations can be justified [2]. In Iran, according to the Rotterdam Standard, this disorder has been reported to have a prevalence of 14.6% [3]. ...
Background
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women. This disorder affects 6–15% of women of childbearing age worldwide. It is diagnosed with hyperandrogenism, polycystic ovaries, and chronic anovulation with insulin resistance. This study aimed to assess the prevalence of insulin resistance (IR) in 4 phenotypes of PCOS, and its relationship with demographic, clinical, and paraclinical individual characteristics in a sample of Iranian PCOS patients.
Methods
This particular cross-sectional investigation involved 160 female participants, aged between 18 and 45 years, who were receiving care at gynecology clinics in Urmia, northwestern Iran. All the participants had been diagnosed with PCOS and were categorized into one of four phenotypes. All the participants underwent clinical evaluations, paraclinical assessments, and ultrasound scans. IR was defined as HOMA-IR > 2.5. The statistical significance level was 0.05.
Results
Among the 160 participants, the prevalences of the 4 phenotypes were: A: 83 (51.9%), B: 37 (23.1%), C: 21 (13.1%), and D: 19 (11.9%). IR was detected in 119 participants (74.4%); its rate was significantly different between the 4 phenotypes (p-value: 0.008) as A: 62 (74.7%), B: 34 (91.9%), C: 12 (57.1%), D: 11 (57.9%). Linear and logistic regression analyses were performed to control confounding factors. In linear regression, PCOS phenotype, classic phenotype (A&B), economic status, and Hb levels were significantly related to HOMA-IR; in logistic regression Hb levels, exercise, economic status, and PCOS phenotypes were significantly associated with insulin resistance.
Conclusions
The most prevalent PCOS phenotype in this study was A. PCOS phenotypes were significantly related to insulin resistance and HOMA-IR, with the highest levels of insulin resistance and HOMA-IR observed in phenotype B. Determining the phenotype of PCOS may be helpful for better management of PCOS and its associated complications. However, further investigations are recommended in this regard.
... Renal and hepatic cyst (RHC) is one of the common benign lesions, and patients mostly show symptoms such as abdominal pain and distension after the onset of the disease. Untimely treatment may easily cause complications such as cyst rupture or bleeding, which may pose a certain threat to patients' life safety (1) . Recently, with the aggravation of the aging population and changes in people's lifestyle habits, the incidence of RHC has been increasing, with more than 3 million new cases worldwide by 2018, and about 20-30% of these patients eventually develop malignant disease, which has serious implications for life safety (2,3) . ...
... 1,2 It is characterized by multiple fluid-filled cysts developed from bile ducts. 3 Liver cysts rarely develop before age 20 but become prominent as age increases, and cyst burden is more significant in women, especially with multiple pregnancies and deliveries. 4,5 Increased number and size of liver cysts lead to hepatomegaly, which is closely related to gastrointestinal symptoms, including abdominal pain. ...
... 19, 20 The frequency of liver cysts increased with age, especially in women, related to exposure to estrogen. 3 In this regard, it has been reported that PLD usually worsens during pregnancy or under estrogen replacement therapy. 5,21, 22 In this study, we found that the female sex significantly impacted the development of liver cysts. ...
Background:
Factors related to the development and severity of polycystic liver disease (PLD) have not been well established. We aimed to evaluate the genetic and epidemiologic risk factors of PLD in patients with autosomal dominant polycystic kidney disease (ADPKD).
Methods:
Adult patients with inherited cystic kidney disease were enrolled from May 2019 to May 2021. Demographic, clinical, and laboratory data were collected at the initial study visit. The severity of PLD was graded based on the height-adjusted total liver volume: < 1,000 mL/m (Gr1), 1,000-1,800 mL/m (Gr2), and > 1,800 mL/m (Gr3). Targeted exome sequencing was done by a gene panel including 89 ciliopathy-related genes. We searched out the relative factors to the presence and the severity of PLD using logistic regression analysis.
Results:
Of 602 patients with typical ADPKD, 461 (76.6%) patients had PLD. The patients with PLD showed female predominance and a higher frequency of other ADPKD-related complications. The genetic variants with truncating mutation of PKD1 (PKD1-protein-truncating [PT]) or PKD2 commonly affected the development and severity of PLD. An older age, female sex, and higher kidney volume with Mayo classification 1C-1E was significantly associated with the development of PLD, but not with the severity of PLD. On the other hand, higher body mass index, lower hemoglobin, and higher alkaline phosphatase (ALP) were the significant risk factors of severe PLD (≥ Gr2).
Conclusion:
Hepatic involvement in ADPKD could be related to kidney manifestations and genetic variants including PKD1-PT or PKD2. Monitoring hemoglobin and ALP and evaluating the genetic variants might help predict severe PLD.
Trial registration:
Clinical Research Information Service Identifier: KCT0005580.
... During the process of the biliary tree formation, the ducts undergo cycles of apoptosis and regeneration. That time small portions of the ductal system may become detached from the main biliary system & gradually dilate into cystic lesions formation ( Fig. 1) 16 . In a second proposed mechanism, the cilia on cholangiocytes transmit signals for decreased intracellular calcium and increased levels of cAMP in the response of changes in the bile flow or bile composition. ...
Hepatic cysts are very rare in children and most of them are simple and solitary, asymptomatic, benign, and do notrequire intervention. It is usually found as a mere coincidence on abdominal imaging techniques, such asultrasonography (USG), computed tomography (CT), and magnetic resonance imaging (MRI). The incidentaldiagnosis of cystic lesions of the liver increased day by day due to increased use and sensitivity of abdominalimaging. Predominantly simple cysts are most common and diagnosed by characteristic Ultrasonogram findings.Serodiagnostic tests and contrast-enhanced ultrasound (CEUS) are useful when USG, CT, and MRI show ambiguousfindings in differentiating other cystic lesions (complicated cysts, echinococcosis, and cyst adenoma/cystadenocarcinoma) and reduce the need for invasive procedures. Although most cysts are benign, some are malignant orpremalignant, so early detection of cystic lesions is important to manage them properly. Treatment is needed insymptomatic or complex cysts or those having malignant or premalignant features. This article outlines the majortypes of hepatic cysts, highlights clinical features that may aid in their appropriate diagnosis, and discussestherapeutic options. Bangabandhu Sheikh Mujib Med. Coll. J. 2022;1(1):37-45
... The prevalence of isolated polycystic liver disease (PLD) varies in the literature. While autosomal dominant polycystic kidney disease (AD-PKD) affects up to 0.2% of the population, the frequency of isolated PLD is much lower (under 0.01%) [7]. Some authors have cited a prevalence of 1 up to 9 cases per 100 000 persons for isolated PLD [8]. ...
"Background: It is well known that patients with polycystic kidney disease (PKD) are at increased risk of developing cerebral aneurysms, however, this association has not been well studied for patients with polycystic liver disease (PLD). Material and methods: Cross-sectional descriptive study, which included 15 adult patients diagnosed with polycystic liver disease at the Gastroenterology and Hepatology Department of Fundeni Clinical Institute. Standard neurological exam and brain MRI were performed in all patients on a 1.5 Tesla MRI. Brain imaging protocol included T1/T2, T1SE, T2-FLAIR, DWI, SWI, 2D-TOF, 3D-TOF. Results: The majority of patients (93%) were females. The mean age was 53 ± 5 years old. Patients with AD-PKD and polycystic hepatic disease predominated (60%). Aneurysms were found in only one patient diagnosed with AD-PKD (in whom three aneurysms were described). The overall prevalence of cerebral aneurysms in our patient group was 7%. However, none of the patients with isolated PLD was found to have intracranial aneurysms. Other brain imaging abnormalities were frequent but nonspecific (mostly attributable to vascular-degenerative changes). Conclusions: Given these results, and due to the small number of patients in our study, it is hard to appreciate if polycystic liver disease is indeed associated with an increased risk of cerebral aneurysms. "
... Hepatic resection has been proposed to treat highly symptomatic patients, with diffuse involvement of the liver parenchyma by multiple cysts and remaining large areas of non-cystic liver parenchyma [8]. However, significant complications can occur, and morbidity and mortality rates associated with this procedure can reach 50% and 3%, respectively [11,12]. ...
... Hepatic transplantation has been published in cases of diffuse involvement of the liver parenchyma by small and medium cysts with only a few areas of normal parenchyma with good efficacy but a morbidity rate of 40-50% and a global mortality rate between 8% and 17% at 5 years [12]. ...
We investigated the long-term safety and efficacy of hepatic transarterial embolization (TAE) in patients with symptomatic polycystic liver disease (PLD). Materials and Methods: A total of 26 patients were included, mean age of 52.3 years (range: 33–78 years), undergoing 32 TAE procedures between January 2012 and December 2019 were included in this retrospective study. Distal embolization of the segmental hepatic artery was performed with 300–500 µm embolic microspheres associated with proximal embolization using microcoils. The primary endpoint was clinical efficacy, defined by an improvement in health-related quality of life using a modified Short Form-36 Health Survey and improvement in symptoms (digestive or respiratory symptoms and chronic abdominal pain), without invasive therapy during the follow-up period. Secondary endpoints were a decrease in total liver volume and treated liver volume and complications. Results: Hepatic embolization was performed successfully in 30 of 32 procedures with no major adverse events. Clinical efficacy was 73% (19/26). The mean reduction in hepatic volume was –12.6% at 3 months and –27.8% at the last follow-up 51 ± 15.2 months after TAE (range: 30–81 months; both ps < 0.01). The mean visual analog scale pain score was 5.4 ± 2.8 before TAE and decreased to 2.7 ± 1.9 after treatment. Three patients had minor adverse events, and one patient had an adverse event of moderate severity. Conclusion: Hepatic embolization using microspheres and microcoils is a safe and effective treatment for PLD that improves symptoms and reduces the volume of hepatic cysts.
... Approximately 95-98% of PLD cases are clinically asymptomatic, but a small proportion develop disabling symptoms and a significant reduction in quality of life. 7,[110][111][112] The number, size, location, and distribution of the cysts determine the spectrum of symptoms, with most being associated with mass effect or compression imposed by hepatomegaly. 113 Abdominal distension usually occurs in patients with significant hepatomegaly. ...
... The presence of cysts in the region of the hepatic dome that promotes diaphragm elevation and, therefore, restriction of thoracic expansion is directly related to dyspnea symptoms. 16,112,[114][115][116] Moreover, some patients report lumbar pain, which is possibly associated with compression of neighboring structures. 110 Patients with expressive symptoms have significant impairment in the quality of life. ...
... 7 The main risk factors involved in the progression of PLD are as follows: advanced age, female sex, exposure to estrogen (use of oral contraceptives, estrogen replacement therapy), severity of renal dysfunction, and volume of renal cysts. 112,135 Measuring the severity of the disease can be difficult, since the liver volume identified in the imaging tests may not be consistent with the symptoms expressed by the patient. Therefore, the assessment of the severity of symptoms can be obtained more reliably from the application of specific questionnaires for patients with PLD. ...
Polycystic liver disease (PLD) is a clinical condition characterized by the presence of more than 10 cysts in the liver. It is a rare disease Of genetic etiology that presents as an isolated disease or assoc\iated with polycystic kidney disease. Ductal plate malformation, ciliary dysfunction, and changes in cell signaling are the main factors involved in its pathogenesis. Most patients with PLD are asymptomatic, but in 2-5% of cases the disease has disabling symptoms and a significant reduction in quality of life. The diagnosis is based on family history of hepatic and/or renal polycystic disease, clinical manifestations, patient age, and polycystic liver phenotype shown on imaging examinations. PLD treatment has evolved considerably in the last decades. Somatostatin analogues hold promise in controlling disease progression, but liver transplantation remains a unique curative treatment modality.
... Although symptom burden is the main indication for treatment, the liver phenotype can aid in determining treatment choice. 2 The natural disease course of PLD remains unknown. Although cyst burden may increase, liver function is generally preserved and most patients remain asymptomatic during the course of the disease. ...
Polycystic liver disease (PLD) is a genetic disorder in which patients suffer from progressive development of multiple (>10) hepatic cysts. Most patients remain asymptomatic during the course of their disease. However, a minority of PLD patients suffer from symptoms caused by hepatomegaly leading to serious limitations in daily life. Untreated symptomatic PLD patients score significantly worse on health-related quality of life (HRQoL) compared to age and gender-matched populations. Currently, liver transplantation is the only curative treatment for PLD. The main goal of other available therapies is to strive for symptomatic relief and improvement of HRQoL by suppressing disease progression. In this review, we summarize the effect of PLD treatment on patient-reported outcome measures with a distinction between HRQoL and symptom severity. At present there is heterogeneity in application of questionnaires and no questionnaire is available that measures both HRQoL and PLD symptom severity. Therefore, we recommend the combination of a validated PLD-specific symptom severity questionnaire and a general HRQoL questionnaire to evaluate treatment success as a minimal core set. However, the specific choice of questionnaires depends on treatment choice and/or research question. These questionnaires may serve as a biomarker of treatment response, failure, and adverse events.
... PLD is relatively rare and may be present alone or in association with ADPKD and autosomal recessive polycystic kidney disease [8,9]. Approximately 80% of patients with PLD are asymptomatic, while the remaining 20% develop complications such as organ compression symptoms, hemorrhage, and infection due to liver cysts [8]. ...
... PLD is relatively rare and may be present alone or in association with ADPKD and autosomal recessive polycystic kidney disease [8,9]. Approximately 80% of patients with PLD are asymptomatic, while the remaining 20% develop complications such as organ compression symptoms, hemorrhage, and infection due to liver cysts [8]. Risk factors for the progressive growth of liver cysts in patients with PLD include older age, sex, exposure to excess estrogen, and severe renal dysfunction [7]. ...
Intracystic hemorrhage is a rare complication of multiple hepatic cysts and can lead to hemorrhagic shock. Hence, measures should be taken to prevent the rupture of cysts. The incidence of intestinal perforation is high in patients undergoing hemodialysis. The diagnosis can be difficult in a patient without typical symptoms. We report the case of a woman in her late 60s with multiple renal and hepatic cysts, which caused chronic renal failure managed with dialysis. She presented with abdominal pain and was diagnosed with intrahepatic cystic bleeding. Continuous intravenous fentanyl was administered for pain management, which temporarily alleviated pain, but abdominal pain recurred with increased intensity when she resumed feeding. Subsequently, a contrast-enhanced computed tomography revealed perforation of the lower gastrointestinal tract. Therefore, in cases of intrahepatic cystic hemorrhage that require administration of analgesics, the complications of other diseases that may also cause acute abdominal pain should also be considered.
... Several of the current therapeutic strategies are based on surgical and pharmacological procedures to improve the symptoms of the disease. For this reason, the treatment of PLD has been ineffective so far, and the only curative option is liver transplantation [45]. This is mainly because the key intrinsic molecular mechanism of cystogenesis remains unknown. ...
(1) Background: Polycystic liver disease (PLD) is a heterogeneous group of congenital disorders characterized by bile duct dilatation and cyst development derived from cholangiocytes. Nevertheless, the cystogenesis mechanism is currently unknown and the PLD treatment is limited to liver transplantation. Novel and efficient therapeutic approaches are th6us needed. In this context, the present work has a principal aim to find novel molecular pathways, as well as new therapeutic targets, involved in the hepatic cystogenesis process. (2) Methods: Quantitative proteomics based on SWATH–MS technology were performed comparing hepatic proteomes of Wild Type and mutant/polycystic livers in a polycystic kidney disease (PKD) murine model (Pkd1cond/cond;Tam-Cre−/+). (3) Results: We identified several proteins altered in abundance, with two-fold cut-off up-regulation or down-regulation and an adjusted p-value significantly related to hepatic cystogenesis. Then, we performed enrichment and a protein–protein analysis identifying a cluster focused on hepatic fibrinogens. Finally, we validated a selection of targets by RT-qPCR, Western blotting and immunohistochemistry, finding a high correlation with quantitative proteomics data and validating the fibrinogen complex. (4) Conclusions: This work identified a novel molecular pathway in cystic liver disease, highlighting the fibrinogen complex as a possible new therapeutic target for PLD.
