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]

Some suggest that these two conditions are one disorder with different presentation. [en.wikipedia.org]

CHF has initial presentation may be at around 3-6 months. The presentation ranges between 1.8-14 years, Portal Hypertension is a usual accompaniment and renal involvement is seen with 9 ]. [omicsonline.org]

• Pulmonary Valve Stenosis

  Three other siblings probably had small a ventricular septal defect and another one probably had mild pulmonary valve stenosis. [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]

• Hyperpnea

  Joubert syndrome is an autosomal recessive inherited condition characterized by agenesis or hypoplasia of the cerebellar vermis, retinal dystrophy, chorioretinal colobomata, oculomotor abnormalities, episodic hyperpnea, ataxia, and mental retardation. [ncbi.nlm.nih.gov]

• Hepatomegaly

  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]

• 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]

• Visual Impairment

  Ophthalmological assessment demonstrated visual impairment with mild exotropia, nystagmus, and oculomotor apraxia. Neurological examination showed moderate mental retardation and cerebellar ataxia. [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]

• Skin Bleeding

  There was no history of abdominal pain or any skin bleeds and any hyperpigmentations. On tracing the pedigree, no other family member was known to be affected. She had no family history of renal cystic disease. [omicsonline.org]

• Learning Difficulties

  A majority of individuals have significant learning difficulties but only a minority have severe impairment on IQ testing. [ncbi.nlm.nih.gov]

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]

As these infections (cholangitis) are often severe, they require long-term intravenous treatment. [ekids.hcuge.ch]

During combined drug treatment, the patient remained free of cholangitis for at least two years. [ncbi.nlm.nih.gov]

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]

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]

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]

The excellent response to portal-systemic shunt for relief of the portal hypertension, and the fact that liver function usually remains good, signify that congenital hepatic fibrosis often has a favorable prognosis. [mdedge.com]

METHODOLOGY: A total of 1285 patients with portal hypertension of different etiologies were studied using ultrasonography as the screening test. [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 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]

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]

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]

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]