Congenital Hepatic Fibrosis
نویسندگان
چکیده
An 8-year-old boy was admitted with slowly progressive distension of abdomen and fullness in upper abdomen of 9 months duration, and history of minor episodes of epistaxis for 7 months. There was no history of pain abdomen, jaundice, hematemesis, malena or any skin bleeds or hyperpigmentation. No umbilical catheterisation was done in the neonatal period. On tracing the pedigree no other family member was known to be affected. The boy weighed 20 kg (5th percentile of NCHS), with a height of 123 cm (25th percentile of
منابع مشابه
Congenital Hepatic Fibrosis: An Uncommon Cause of Chronic Renal Failure
Congenital Hepatic Fibrosis (CHF) is a rare disease that affects both the liver and kidneys. Congenital hepatic fibrosis (CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. Affected individuals also have impaired renal function, usually caused, in children and teenagers, by an...
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An aborted female Holstein foetus with marked generalized anasarca was referred to the Excellence Centre for Ruminant Abortion and Neonatal Mortality, Ferdowsi University of Mashhad. On postmortem examination, red-tinged ascites, pale and firm liver with extreme irregularity and numerous round to oval slightly raised foci on the capsular surface were seen. Histological examination revealed wide...
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Congenital hepatic fibrosis (CHF) is a rare disease that primarily involves hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension and renal cystic disease. We present a 22 years old man with fever, abdominal pain, icterus and hematemesis. On complete work up of the patient and liver with kidney biopsy, the diagnosis was congenital hepatic fibrosis.
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Background: Congenital hepatic fibrosis (CHF) is an autosomal hereditary disorder affecting the porto-biliary system. It is a rare hereditary disorder often presenting in childhood or adolescence with hepatomegaly, splenomegaly, and gastrointestinal bleeding. A timely diagnosis of organomegalies by sonography can prevent esophageal varices. Liver transplantation is now the only...
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Herein, we describe two patients who underwent liver transplantation with the clinical diagnosis of hepatic failure and cryptogenic cirrhosis; histopathology of the explanted hepatectomy specimen revealed congenital hepatic fibrosis. To the best of our knowledge, coexistence of hepatic failure and cirrhosis in congenital hepatic fibrosis, have not yet been reported in the English literature.
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We report an otherwise healthy 32-year-old man with portal hypertension, variceal bleeding, and congenital hepatic fibrosis with ductal plate malformation. Genetic screening identified two TMEM67 mutations. Biallelic TMEM67 mutations are known to cause Joubert/Meckel syndrome or nephronopthisis with hepatic fibrosis, but have never been found in isolated hepatic fibrosis.
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