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HPB Surgery
Published in Tjun Tang, Elizabeth O'Riordan, Stewart Walsh, Cracking the Intercollegiate General Surgery FRCS Viva, 2020
London Lucien Ooi Peng Jin, Teo Jin Yao
What symptoms can be associated with liver cysts?Large liver cysts can present with mass effect like abdominal distension, early satiety, or dyspepsia. However, these symptoms are non-specific and other common pathology must be ruled out e.g. gallstone disease, GERD, gastritis.Some patients present as complications which include infection, rupture, haemorrhage. In rare cases, liver cysts may cause compression of the biliary system, portal vein or hepatic veins.While liver synthetic function is usually preserved, even with extensive involvement, congenital polycystic liver disease is occasionally associated with progressive liver failure, although this is rare.
Normal and Abnormal Development of the Biliary Tree
Published in Gianfranco Alpini, Domenico Alvaro, Marco Marzioni, Gene LeSage, Nicholas LaRusso, The Pathophysiology of Biliary Epithelia, 2020
Polycystic liver disease usually presents as an asymptomatic enlarged liver. However, significant symptoms can occur in up to 20% of cases, including abdominal pain, orthopnea, dyspnea, early satiety, or abdominal distention. These are mechanical symptoms from the massive liver enlargement. Fatal hepatic failure with venous compression and ascites is distincdy uncommon.
The gastrointestinal tract
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
A variety of forms can be recognised pathologically, depending on the predominance of fibrosis or cystic change and the degree of renal involvement (see Chapter 24). Some of these conditions follow autosomal recessive and others autosomal dominant inheritance. The recessive polycystic kidney disease type 4 shows variable liver involvement that can include Caroli disease (of dilated biliary ducts, congenital hepatic fibrosis and portal hypertension). Adult polycystic kidney disease (autosomal dominant) rarely has more than a few hepatic cysts in early life. A separate entity of adult polycystic liver disease without renal involvement may exist but is rare compared with polycystic kidney disease, so offspring of patients may have a risk of renal as well as hepatic involvement.
Renal ciliopathies: promising drug targets and prospects for clinical trials
Published in Expert Opinion on Therapeutic Targets, 2023
Laura Devlin, Praveen Dhondurao Sudhindar, John A. Sayer
Radiologically, there are other forms of atypical ADPKD, where there may be unilateral cystic kidney disease, segmental cystic kidney disease involving one pole of one or both kidneys, asymmetric cystic kidney disease and lopsided kidney disease, where less than or equal to 5 kidney cysts account for greater than or equal to 50% of total kidney volume [53]. Such patients present with cystic kidney disease phenotypes, as well as the other renal and extra-renal phenotypes, such as polycystic liver disease. These are caused by mutations in genes encoding proteins not typically associated with primary cilia but are predicted to effect the PC1 or PC2 complex [41]. An example is heterozygous mutations in the transcription factor HNF1B which causes atypical ADPKD with a wide range of renal phenotypes, such as congenital abnormalities of the kidney and urinary tract (CAKUT) or autosomal dominant tubulointerstitial kidney disease (ADTKD)-like presentations [58]. Other genetic causes of atypical ADPKD include heterozygous variants in; IFT140, DNAJB11, GANAB, ALG8, ALG9, SEC61A1 and PRKCSH [58–67]. Atypical ADPKD is characterized clinically with a milder disease progression phenotype with some mutations in genes such as GANAB and ALG8 having no instances of KF reported to date; however, some patients reach KF in later adulthood [41,61–64].
Progress in research on the roles of TGR5 receptor in liver diseases
Published in Scandinavian Journal of Gastroenterology, 2021
Ke Ma, Dan Tang, Chang Yu, Lijin Zhao
In addition to promoting the proliferation of bile duct cells, TGR5 promotes the proliferation of rat and human cystic bile duct cells in polycystic liver disease, which is one of the primary mechanisms of cystic growth [116,117]. Masyuk et al. found that TGR5 promotes the development of polycystic liver disease via the cAMP/G-α pathway and identified a novel TGR5 antagonist, SBI-115, with an effective inhibitory effect on polycystic liver disease either alone or in combination with the somatostatin receptor (SSTR) analogue pisitide (a drug targeting cAMP) [117,118]. This study provides a novel treatment option for polycystic liver disease. Nonetheless, information on TGR5 and polycystic liver disease is limited, and the contributions of other mechanisms linking TGR5 to polycystic liver disease cannot be excluded.
Hypercalcemia associated with Pneumocystis jirovecii pneumonia in renal transplant recipients: case report and literature review
Published in Acta Clinica Belgica, 2021
Sophie Coche, Georges Cornet, Johann Morelle, Laura Labriola, Nada Kanaan, Nathalie Demoulin
A 51-year-old Caucasian woman presented with fever, asthenia, arthralgia, headache and dry cough for the past 3 days. She had a history of autosomal dominant polycystic kidney disease and had undergone living-donor pre-emptive kidney transplantation 6 years earlier. Chronic renal graft dysfunction was attributed to biopsy proven moderate to severe arteriosclerosis and recurrent pyelonephritis, and her baseline creatinine was 2.5 mg/dl (MDRD-estimated glomerular filtration rate [eGFR] 20 ml/min/1.73 m2). The patient also suffered from symptomatic polycystic liver disease, treated by somatostatin analogs. Her medications included tacrolimus, mycophenolate mofetil, low-dose prednisolone, levothyroxine, darbepoietin-alpha and lanreotide.