Investigation of primary cilia in the pathogenesis of biliary atresia.
Hartley JL, O'callaghan C, Rossetti S, Consugar M, Ward CJ, Kelly DA, Harris PC. J Pediatr Gastroenterol Nutr. 2011 Apr;52(4):485-8.
This is an interesting article discussing the possible role of primary ciliary abnormalities in the pathogenesis of biliary atresia. Can biliary atresia, in particular the "embryonic"/prenatal/syndromic subgroup, in which numerous congenital maformations (including polysplenia, pre-duodenal portal vein, situs inversus etc) be part of the spectrum of "ciliopathies", which currently include ADPKD, ARPKD, congenital hepatic fibrosis, Caroli's disease, Caroli's syndrome, and polycystic liver disease? In this study, 9 of 355 children with BA developed renal cysts on follow-up (all of whom had the perinatal/nonsyndromic form). In one of seven cases (among the nine children who developed renal cysts) undergoing genetic testing, one child was a compound heterozygote for a mutation involving the PKHD1 gene. No functional ciliary abnormalities were identified in two children whose nasal cilia were studied. Interestingly, however, the bile duct epithelium in BA cases (with or without renal cysts) was uniformly negative for fibrocystin by immunohistochemistry, in contrast to strong expression in normal livers and livers with various other inflammatory/genetic/metabolic diseases
A- Autosomal recessive polycystic kidney disease with associated congenital hepatic fibrosis. Note the presence of splenomegaly secondary to portal hypertension.
B- Autosomal dominant polycystic kidney disease with associated liver cysts. In this setting, liver cysts are isolated and usually do not communicate with the biliary tree.
Normal portal tract development (left) compared to plate malformation (right) with persistence of embryonal duct plate configuration.
Reference: Gunay-Aygun M. Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Genet 2009;151C(4):296-306.
Hartley JL, O'callaghan C, Rossetti S, Consugar M, Ward CJ, Kelly DA, Harris PC. J Pediatr Gastroenterol Nutr. 2011 Apr;52(4):485-8.
This is an interesting article discussing the possible role of primary ciliary abnormalities in the pathogenesis of biliary atresia. Can biliary atresia, in particular the "embryonic"/prenatal/syndromic subgroup, in which numerous congenital maformations (including polysplenia, pre-duodenal portal vein, situs inversus etc) be part of the spectrum of "ciliopathies", which currently include ADPKD, ARPKD, congenital hepatic fibrosis, Caroli's disease, Caroli's syndrome, and polycystic liver disease? In this study, 9 of 355 children with BA developed renal cysts on follow-up (all of whom had the perinatal/nonsyndromic form). In one of seven cases (among the nine children who developed renal cysts) undergoing genetic testing, one child was a compound heterozygote for a mutation involving the PKHD1 gene. No functional ciliary abnormalities were identified in two children whose nasal cilia were studied. Interestingly, however, the bile duct epithelium in BA cases (with or without renal cysts) was uniformly negative for fibrocystin by immunohistochemistry, in contrast to strong expression in normal livers and livers with various other inflammatory/genetic/metabolic diseases
A- Autosomal recessive polycystic kidney disease with associated congenital hepatic fibrosis. Note the presence of splenomegaly secondary to portal hypertension.
B- Autosomal dominant polycystic kidney disease with associated liver cysts. In this setting, liver cysts are isolated and usually do not communicate with the biliary tree.
Normal portal tract development (left) compared to plate malformation (right) with persistence of embryonal duct plate configuration.
Reference: Gunay-Aygun M. Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Genet 2009;151C(4):296-306.
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