Congenital hepatic fibrosis in a case of Autosomal Dominant Polycystic Kidney Disease: A case report of rare association and review of literature
Keywords:
Autosomal Dominant, Congenital Fibrosis Liver, Polycystic Kidney Disease, Subarachnoid Haemorrhage
Abstract
Cilliopathies are the newer group of human genetic disorders in which the cilliary structure or function is affected. Hepatorenal fibrocystic diseases (HRFCDs) are a part of cilliopathies and characterized by developmental abnormalities of the portobiliary system along with fibrocystic change in the kidneys. Polycystic kidney diseases (PKD) which is the largest subclass of HRFCDs had autosomal dominant and recessive forms. ADPKD is characterized by multiple, bilateral renal cysts along with extra renal manifestations .Liver is the most common extra renal organ affected in ADPKD. Congenital hepatic fibrosis (CHF), is the rare but well known forms of liver involvement in ADPKD.We report a case of a 26 year male was admitted to Lokmanya Tilak Municipal Hospital for sudden loss of consciousness and one episode of convulsion.Patient succumbed to his illness within two hours, autopsy revealed bilaterally enlarged polycystic kidneys.Liver showed broad bands of portal to portal fibrosis. The portal tracts contained abundant irregularly shaped interlobular bile ducts. Congenital hepatic fibrosis (CHF) is most commonly associated with ARPKD amongst the various renal cilliopathies. We present the rare association of ADPKD with CHF.References
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14. Lipschitz BB, Berdon WE, Defelice AR , Levy J. Levy Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease. Pediatr Radiol 1993; 23:131-3
15. Lee FI , Paes AR. Congenital hepatic fibrosis and adult-type autosomal dominant polycystic kidney disease in a child. Postgraduate Medical Journal 1985;61, 641-642
16. Manes JL, Kissane JM, Valdes AS. Congenital hepatic fibrosis, liver cell carcinoma and adult polycystic kidneys. Cancer 1977;39:2619-23.
17. Kevin O’Brien, Esperanza Font-Montgomery, Linda Lukose et al. Congenital Hepatic Fibrosis and Portal Hyper-tension in Autosomal Dominant Polycystic Kidney Disease. JPGN 2012;54: 83–89.
18. Jean-Louis Dupond, Jean-Philippe Miguet, Jean-Pierre Carbillet, et al. Kidney Polycystic Disease in Adult Con-genital Hepatic Fibrosis. Ann Intern Med. 1978;88:514-515
19. Ecder T, Schrier RW. Hypertension in Autosomal Dominant Polycystic Kidney Disease: Early Occurrence and Unique Aspects. J Am Soc Nephrol 2001; 12: 194-200
20. Patel J, Gupta S, Faujdar M, Gupta G, Chaturvedi S. Congenital Hepatic Fibrosis associated with polycystic kidney disease. Annals of Pathology and Laboratory Medicine, 2015;2, C187-191
2. Meral Gunay-Aygun. Liver and Kidney Disease in Ciliopathies. Am J Med Genet C Semin Med Genet. 2009; 151C: 296–306.
3. Torres VE, Harris PC. Autosomal dominant polycystic kidney disease: The last three years. Kidney Int. 2009;76:149-168.
4. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet 2007; 369: 1287–301
5. Fick GM, Gabow PA. Hereditary and acquired cystic disease of the kidney. Kidney Int 1994; 46:951.
6. Watson ML. Complications of polycystic kidney disease. Kidney Int 1997; 51:353.
7. Chauveau D, Fakhouri F, Jean-Pierre Gru¨ Nfeld. Liver involvement in autosomal-dominant polycystic kidney disease: therapeutic dilemma. J Am Soc Nephrol 2000; 11: 1767-75.
8. Gunay-Aygun M, Gahl WA, Heller T. Congenital Hepatic Fibrosis Overview. 2008 Dec 9. Available from : http://www.ncbi.nlm.nih.gov/books/NBK2701/
9. Desmet VJ. Ludwig symposium on biliary disorders--part I. Pathogenesis of ductal plate abnormalities. Mayo Clin Proc. 1998;73:80–9
10. Shorbagi A, Bayraktar Y. Experience of a single center with congenital hepatic fibrosis: A review of the literature. World J Gastroenterol 2010; 16: 683-690
11. Guay-Woodford LM, Desmond RA. Autosomal recessive polycystic kidney disease: The clinical experience in North America. Pediatrics 2003;111:1072–80.
12. Kanaheswari Y, Hamzaini AH, Wong SW, Congenital Hepatic Fibrosis in a Child with AutosomalDominant Polycystic Kidney Disease. Med J Malaysia 2008;63: 251
13. Kaczorowski JM, Halterman JS, Spitalnik P, Mannick E, Chin-To Fong. Pathology teach and tell: Congenital hepatic fibrosis and autosomal dominant polycystic kidney disease. Pediatric Pathology and Molecular Medicine 2001;20: 24S-24X.
14. Lipschitz BB, Berdon WE, Defelice AR , Levy J. Levy Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease. Pediatr Radiol 1993; 23:131-3
15. Lee FI , Paes AR. Congenital hepatic fibrosis and adult-type autosomal dominant polycystic kidney disease in a child. Postgraduate Medical Journal 1985;61, 641-642
16. Manes JL, Kissane JM, Valdes AS. Congenital hepatic fibrosis, liver cell carcinoma and adult polycystic kidneys. Cancer 1977;39:2619-23.
17. Kevin O’Brien, Esperanza Font-Montgomery, Linda Lukose et al. Congenital Hepatic Fibrosis and Portal Hyper-tension in Autosomal Dominant Polycystic Kidney Disease. JPGN 2012;54: 83–89.
18. Jean-Louis Dupond, Jean-Philippe Miguet, Jean-Pierre Carbillet, et al. Kidney Polycystic Disease in Adult Con-genital Hepatic Fibrosis. Ann Intern Med. 1978;88:514-515
19. Ecder T, Schrier RW. Hypertension in Autosomal Dominant Polycystic Kidney Disease: Early Occurrence and Unique Aspects. J Am Soc Nephrol 2001; 12: 194-200
20. Patel J, Gupta S, Faujdar M, Gupta G, Chaturvedi S. Congenital Hepatic Fibrosis associated with polycystic kidney disease. Annals of Pathology and Laboratory Medicine, 2015;2, C187-191
Published
2015-08-25
Issue
Section
Case Reports
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