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Congenital Hepatic Fibrosis


Presentation

  • Hepatobiliary as well as renal manifestations were recorded at presentation, and their evolution followed up until transplant or last follow-up. RESULTS: There were 40 children (22 boys) with a median age of 1.3 years at clinical presentation.[ncbi.nlm.nih.gov]
  • Mean age of clinical presentation was 25.68 20.99, variably ranging Conclusions: CHF presented as a rare liver disease with an asymptomatic long-term period and a poor prognosis when clinically apparent.[thieme-connect.com]
  • Firm or hard hepatomegaly is present nearly in all patients, often with a prominent left lobe, and this is usually one of the presenting signs.[ncbi.nlm.nih.gov]
  • We report on a patient who presented at birth (1979) with ARPCKD and respiratory distress. He died at 18 hr. An older sib presented at 16 yr in 1984.[ncbi.nlm.nih.gov]
  • We present four pediatric patients with histologically proven congenital hepatic fibrosis. The patients had diverse manifestations.[ncbi.nlm.nih.gov]
Weight Gain
  • Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals.[ncbi.nlm.nih.gov]
Splenomegaly
  • RESULTS: Sixteen patients had morphologic abnormalities in the liver, 15 had splenomegaly (three underwent splenectomy for portal hypertension), and 14 had varices or spontaneous splenorenal shunts.[ncbi.nlm.nih.gov]
  • A 25-year-old woman was admitted to our hospital with splenomegaly and hepatic cirrhosis of a 3-month duration and fever accompanied by abdominal pain for 3 days.[ncbi.nlm.nih.gov]
  • In most patients, the first manifestations of CHF are signs and symptoms related to portal hypertension such as splenomegaly and varices.[ncbi.nlm.nih.gov]
  • Sixty-nine percent of patients had enlarged left lobes on magnetic resonance imaging, 92% had increased liver echogenicity on ultrasonography, and 65% had splenomegaly.[ncbi.nlm.nih.gov]
  • We describe the first case of CHF presenting in an otherwise healthy child, with thrombocytopenia and splenomegaly as the only manifestations of the disease.[ncbi.nlm.nih.gov]
Sputum
  • : 2012-10-04 Sponsor Name: CHU de Rennes (Rennes University Hospital Centre) Full Title: Azole Therapy in Cystic Fibrosis (ATCF) : Efficacy of itraconazole and of voriconazole in patients with cystic fibrosis and presenting with persistent positive sputums[clinicaltrialsregister.eu]
Lip Cyanosis
  • A 16-year-old boy with congenital hepatic fibrosis, on whom a portocaval anastomosis was performed because of bleeding esophageal varices, developed lip cyanosis, exertional dyspnea, and clubbing of the fingers 7 years postoperatively.[ncbi.nlm.nih.gov]
Hepatomegaly
  • The age at presentation ranged from 1.8-14 years (mean: 7.5 years); clinical manifestations at diagnosis were splenomegaly (12), hepatomegaly (11), failure to thrive (10), marked abdominal distention (4), and fever (4).[ncbi.nlm.nih.gov]
  • Hepatomegaly was present in all patients and splenomegaly in all but one. Liver function and renal function tests were normal in all children, except for a raised serum alkaline phosphatase in six.[ncbi.nlm.nih.gov]
  • Two children with congenital hepatic fibrosis presented atypically: one with prolonged fever and hepatomegaly associated with a giant intrahepatic biliary cyst and a second with ascites at an early age despite normal serum albumin concentrations.[ncbi.nlm.nih.gov]
  • She also had diabetes mellitus, slight hepatic dysfunction, and hepatomegaly. Liver biopsy showed perilobular fibrosis and bile duct proliferation with cystic dilatation; these findings are consistent with those of congenital hepatic fibrosis.[ncbi.nlm.nih.gov]
  • Congenital hepatic fibrosis is a relatively rare disease of children and young adults characterized by hard hepatomegaly, portal hypertension with relative preservation of liver function and underlying architecture, and frequent renal involvement.[ncbi.nlm.nih.gov]
Hepatosplenomegaly
  • The patients showed early hepatosplenomegaly, portal hypertension, and no apparent kidney involvement. Clinical and laboratory findings were similar in both patients.[ncbi.nlm.nih.gov]
  • The authors report an unusual case of ARPKD presenting with hepatosplenomegaly and cytopenia mimicking acute leukemia.[ncbi.nlm.nih.gov]
  • This diagnosis should be suspected when these biliary and renal abnormalities are associated with hepatosplenomegaly in a patient with normal liver function.[ncbi.nlm.nih.gov]
  • We report two unrelated children with Joubert syndrome and hepatosplenomegaly. On histopathological examination, both had congenital hepatic fibrosis. Both were also found to have congenital medullary cystic disease of the kidneys.[ncbi.nlm.nih.gov]
  • The first two patients were seven-year old identical twins who presented with hepatosplenomegaly and were found to have portal hypertension with esophageal varices.[ncbi.nlm.nih.gov]
Eruptions
  • On examination, her upper primarily canines were loose, she had severe periodontitis, eruption of permanent teeth, diffuse eritematous and hyperkeratotic palms and soles that suggested the syndrome.[ncbi.nlm.nih.gov]
Decreased Renal Function
  • Symptoms may only affect the kidneys (with blood in the urine and decreased renal function that is no longer able to eliminate harmful substances from the organism), may only affect the liver, or may affect both systems.[ekids.hcuge.ch]
Learning Difficulties
  • A majority of individuals have significant learning difficulties but only a minority have severe impairment on IQ testing.[ncbi.nlm.nih.gov]

Workup

  • Laboratory workup may reveal mild elevations in liver enzymes. Patients with a predominantly cholangitic clinical picture may have marked elevations in alkaline phosphatase (ALP), γ-glutamyl transpeptidase (GGT) and bilirubin.[wjgnet.com]
Nephrolithiasis
  • Note: Nephrocalcinosis is different from nephrolithiasis (renal stones), in which calcification is within the lumen of the collecting system or ureter.[ncbi.nlm.nih.gov]

Treatment

  • During combined drug treatment, the patient remained free of cholangitis for at least two years.[ncbi.nlm.nih.gov]
  • As these infections (cholangitis) are often severe, they require long-term intravenous treatment.[ekids.hcuge.ch]
  • Pharmacological treatment and treatment based on sclerosis should be continued. It is important to rule out the presence of gastric varices prior to treatment of the esophageal varices.[elsevier.es]
  • Prompt diagnosis and appropriate treatment are necessary to avoid further complications in the affected patients.[ncbi.nlm.nih.gov]
  • In view of the persistent hypoprothrombinaemia, severe thrombocytopenia, and the multiple fistulas the risk of operation was thought to be unacceptable and she continues on medical treatment.[ncbi.nlm.nih.gov]

Prognosis

  • It appears to be a particular risk in patients with prolonged survival but is rare in CHF, where portal hypertension and renal insufficiency make the long-term prognosis poor.[ncbi.nlm.nih.gov]
  • The management and prognosis of CHF is dependent on alimentary bleeding secondary to portal hypertension. In late childhood abdominal pain, cholangitis and features of hypersplenism complicate the problem.[scopemed.org]
  • Although epoprostenol infusion, nitric oxide inhalation, isosorbide-5-mononitrate, nitroglycerin, and calcium channel blockers may reduce pulmonary artery pressure in patients with portopulmonary hypertension, the prognosis remains poor.[ncbi.nlm.nih.gov]
  • Mean age of clinical presentation was 25.68 20.99, variably ranging Conclusions: CHF presented as a rare liver disease with an asymptomatic long-term period and a poor prognosis when clinically apparent.[thieme-connect.com]
  • Endoscopic sclerotherapy is effective in controlling variceal bleed and the prognosis is universally good in the absence of renal diseases.[ncbi.nlm.nih.gov]

Etiology

  • METHODOLOGY: A total of 1285 patients with portal hypertension of different etiologies were studied using ultrasonography as the screening test.[ncbi.nlm.nih.gov]
  • Congenital hepatic fibrosis is an uncommon disease of undetermined etiology that may present clinically with portal hypertension or cholangitis.[ncbi.nlm.nih.gov]
  • The etiology of these cases remains unclear, but a genetic factor, which has been suggested as for other syndromes, might be involved.[ncbi.nlm.nih.gov]
  • During the follow-up, the patient was diagnosed to have congenital hepatic fibrosis (CHF) when she was 16 years old, while she was being investigated for the etiology of her splenomegaly and pancytopenia.[ncbi.nlm.nih.gov]
  • […] structures numerous epithelium-lined structures of biliary origin elongated and cystic spaces lined by regular biliary epithelium central or peripheral localization in the portal space luminal inspissated bile /- cholangitis associated Caroli disease Etiology[humpath.com]

Epidemiology

  • Epidemiology The incidence of ARPKD is 1/20,000–1/40,000 live births. Carrier frequency of PKHD1 mutation in the general population is 1:70.[unboundmedicine.com]
  • Epidemiology Frequency International Congenital hepatic fibrosis is a rare autosomal recessive disease; the exact incidence and prevalence are not known.[emedicine.com]
Sex distribution
Age distribution

Pathophysiology

  • Because of the common underlying pathophysiology of ductal plate malformation, CHF can be accompanied by an abnormal biliary appearance, which is characterized by a saccular or fusiform dilatation of the bile ducts.[ncbi.nlm.nih.gov]
  • The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process.[ncbi.nlm.nih.gov]
  • Pathophysiology Ductal plate malformation is a characteristic histologic lesion of the liver, implying a disturbance of the normal development of the bile ducts.[unboundmedicine.com]
  • Only rarely is hepatic synthetic function compromised Predisposition to cholangitis may affect transplantation decisions and timing As our understanding of pathophysiology improves, frequently this results in reclassification of diseases.[gutsandgrowth.wordpress.com]
  • Several studies have attempted to establish the pathophysiological mechanism behind the abnormal and excessive fibrotic response associated with CHF.[wjgnet.com]

Prevention

  • Dehydrocholic acid with meals improved hepatobiliary excretion of the radioactive isotope and lowered serum bile acid levels but did not prevent cholangitic attacks when used alone.[ncbi.nlm.nih.gov]
  • Emphasis is laid on the importance of early diagnosis if serious complications are to be prevented.[ncbi.nlm.nih.gov]
  • Prophylactic porta-caval shunting followed by renal transplantation is ideally suited to the sequence of events occurring clinically in the intermediate form of this condition, preventing complications of bleeding from oesophageal varices and hyperplenism[ncbi.nlm.nih.gov]
  • Prevention of secondary complications: Immunization for hepatitis A and B.[ncbi.nlm.nih.gov]
  • The data in humans, however, has been mixed, with no conclusive evidence supporting the use of angiotensin receptor blockers for the prevention of liver fibrosis[ 30 ].[wjgnet.com]

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