Congenital Hepatic Fibrosis associated with polycystic kidney disease
Congenital hepatic fibrosis (CHF) is an autosomal recessive disorder and occurs as a result of ductal plate malformation. Clinically it is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. The exact incidence and prevalence of CHF are not known, but it is a rare disease. This disorder is diagnosed in most patients during childhood or young adulthood. We present the case of 8 year old female with hepatosplenomegaly, hematemesis, melena, bilateral polycystic kidney disease and a histopathological diagnosis of congenital hepatic fibrosis. She had a history of celiac disease. Congenital hepatic fibrosis belongs to the so-called fibropolycystic diseases. Celiac disease is an immune-mediated enteropathy. We describe its association with congenital hepatic fibrosis.
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De Vos M, Barbier F, Cuvelier C. Congenital hepatic fibrosis. J Hepatol 1988; 6: 222-228.
Turkbey B, Ocak I, Daryanani K, Esperanza Font-Montgomery, Linda Lukose, Joy Bryant, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol. 2009; 39:100-11.
Yonem O, Bayraktar Y. Is portal vein cavernous transformation a component of congenital hepatic fibrosis? World J Gastroenterol 2007; 13: 1928-1929.
Zeitoun D, Brancatelli G, Colombat M, Federle MP, Valla D, Wu T, et al. Congenital hepatic fibrosis: CT findings in 18 adults. Radiology 2004; 231: 109-116.
Blyth M, Ockenden BG. Polycystic disease of kidneys and liver. J Med Genet 1971; 8:257-84.
Summefield JA, Nagafuchi Y, Sherlock S, Cadafalch J, Scheuer PJ. Hepatobiliary fibropolycystic disease. A clinical and histological review of 51 patients. J Hepatol 1986; 2:141-156.
Abdullah AM, Nazer H. Congenital hepatic fibrosis in Saudi Arabia. J Trop Pediatr 1991; 37: 240-3.
Mowat AP. Congenital hepatic fibrosis. In: Liver Disorders in Childhood, 3rd edn. London, Butterworth Heinemam, 1993; pp 307-12.
Perisic VN. Long term studies on congenital hepatic fibrosis in children. Acta Paediatr 1995; 84: 695-6.
Ramiriz-Mayans JA. Congenital hepatic fibrosis-Study of 26 cases. Acta Gastroenterol 1994; 25: 297-303.
Alvarez F, Bernard O, Brunelle F, Hadchowel H, Leblanc A, Odiewae M, et al. Congenital hepatic fibrosis in children. J Pediatr 1981; 99: 370-5.
Gocmen R, Akhan O, Talim B. Congenital absence of the portal vein associated with congenital hepatic fibrosis. Pediatr Radiol 2007; 37: 920-4.
Fasano A: Clinical presentation of celiac disease in the pediatric population. Gastroenterology 2005; 128:S68.
Rostom A, Murray JA, Kagnoff MF. American Gastroenterological Association (AGA) Institute technical review on the diagnosis and management of celiac disease. Gastroenterology 2006; 131:1981.
Stevens FM, McLoughlin RM. Is celiac disease a potentially treatable cause of liver failure? Eur J Gastroenterol Hepatol. 2005;17:1015–7.
Azzam R. Liver Abnormalities in celiac Disease. Impact, A publication of the University of Chicago Celiac Disease Center; Summer 2010. www.cureceliacdisease.org/wp-content/uploads/2011/09/0610CeliacCtr_Newslink.pdf (assessed on 19/11/2014)
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