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Cystic diseases of the kidney
Published in J Kellogg Parsons, E James Wright, The Brady Urology Manual, 2019
Congenital hepatic fibrosis: Older patients may have portal hypertension, esophageal varices, and hepatosplenomegaly.
Hepatic cysts and abscesses
Published in Prem Puri, Newborn Surgery, 2017
Jonathan P. Roach, David A. Partrick, Frederick M. Karrer
In all forms of ARPKD, the liver is not usually grossly cystic. The liver abnormality is termed congenital hepatic fibrosis. Microscopically, there is bile duct proliferation with irregular broad bands of fibrous tissue containing multiple microscopic cysts formed by disordered terminal bile ducts, chiefly in the portal areas. The incidence of portal hypertension in ARPKD increases with longevity and appears to be inversely related to the severity of the renal disease. Treatment for portal hypertension is not required in infancy since it takes time for esophageal varices with the tendency to bleed to develop. If portal hypertension leads to esophageal bleeding, endoscopic treatment or portosystemic shunting is preferred. Hepatic synthetic function is usually preserved and the portal hypertension may improve in adolescence as other collaterals develop. Therefore, liver transplantation is usually not needed. Rarely, fibrosis is accompanied by cystic dilation of intrahepatic biliary ducts like Carole’s disease. This rare variant does not require treatment in infancy.21
Analysis of the mechanism underlying liver diseases using human induced pluripotent stem cells
Published in Immunological Medicine, 2019
We have recently reported on the pathological molecular mechanism of congenital hepatic fibrosis (CHF), which was clarified using genetically engineered human iPS cells. The pathological mechanism of CHF is quite different from that of liver cirrhosis owing to chronic hepatitis; hepatic fibrosis in CHF patients is prominent with nodular formation, but necroinflammatory changes of hepatocytes and the activation of hepatic stellate cells are not evident in the CHF liver [33]. The gene responsible for CHF is PKHD1 (polycystic kidney and hepatic disease 1), which encodes the fibrocystin protein localized in the primary cilia of cholangiocytes [34,35]. Animal models of CHF, such as gene-targeted Pkhd1 mutated mice, have been developed [36–39]; however, there are several phenotypic differences between human CHF and these animal models. Thus, a disease model using human cells is necessary to study CHF pathophysiology. It is difficult to clarify such mechanisms using an iPS cell model derived from CHF patients because of the numerous mutation patterns without specific correlations between genetic and phenotype variations in CHF patients. Furthermore, the complete functional loss of PKHD1 is lethal in the fetal period [40–42].
Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination
Published in Scandinavian Journal of Gastroenterology, 2018
Luise Aamann, Nikolaj Ørntoft, Ida Vogel, Henning Grønbaek, Naja Becher, Hendrik Vilstrup, Peter Ott, Dorte Launholt Lildballe
Mutations in ABCC2 cause the benign autosomal recessive disorder Dubin–Johnson syndrome, which is normally not associated with other signs of cholestasis. However, variants in ABCC2 seem to predispose for cholestatic reactions in some cases. Thus, although not uncontroversial [20,23] ABCC2 mutations have been associated with rare cases of ICP [24,25], neonatal cholestasis [26] and drug interaction involving NSAID and methotrexate [27]. P06 experienced ICP twice, cholestatic symptoms after use of NSAID, and revealed a family history of unexplained cholestatic liver diseases, but as the family was not genetically tested, she was classified as C, ‘Genetics may contribute’. The same was the case for P25 with severe and prolonged cholestatic symptoms after exposure to methotrexate transported by ABCC2 during elimination [28]. P22 presented with congenital hepatic fibrosis in a liver biopsy, this finding was inconsistent with only one missense variant in ABCC2 (c.1483A > G) and therefore classified as C. P22 was later diagnosed with TMEM67 mutations, which explained his phenotype better [29].
Expression of CD56 is Not Limited to Biliary Atresia and Correlates with the Degree of Fibrosis in Pediatric Cholestatic Diseases
Published in Fetal and Pediatric Pathology, 2022
Pavithra Ayyanar, Santosh Kumar Mahalik, Snehendu Haldar, Suvendu Purkait, Susama Patra, Suvradeep Mitra
Routine Hematoxylin and Eosin stain was performed in all cases for the appreciation of the histomorphology. In addition, Masson trichrome stain, reticulin, orcein, Perls’, and periodic acid-Schiff (PAS) without diastase stains were performed in all these cases to aid in the diagnosis. A fibrosis score was ascribed to each case following assessment with the Masson trichrome stain (Table 2). This score was partly adopted from Chen et al. [8] The fibrosis score was not ascribed to the three cases of congenital hepatic fibrosis despite marked fibrous expansion of the portal tracts (n = 3).