Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 29-year old lady presented to the hospital with high-grade intermittent fever, arthritis and macular skin rash. Investigations revealed anaemia, polymorphonuclear leucocytosis and raised erythrocyte sedimentation rate. Other tests including those for antinuclear antibody and rheumatoid factor were normal. The serum ferritin level however was raised. On the basis of these parameters a diagnosis of Still's disease was made. Treatment comprising oral steroids and anti-inflammatory agents was instituted. The patient recovered and was discharged only to present ten days later following 3 episodes of generalised tonic clonic seizures. Investigations revealed a persistently high serum ferritin with abnormal liver function test results. Jaundice developed and the patient went into grade IV hepatic encephalopathy following which she died. Still's disease is an idiopathic disease, diagnosed purely on the basis of the typical clinical features of the illness which include persistent arthritis, high fever, anaemia and an erythematous rash. Treatment for Still's disease mainly includes steroids and non-steroidal anti-inflammatory agents. Second-line treatment includes that used for controlling the arthritis and comprises gold, hydroxychloroquine, penicillamine, azathioprine, methotrexate, and cyclophosphamide.
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PMID:Adult onset Still's disease as a cause of acute liver failure. 1856 66

Deoxyguanosine kinase (dGK) deficiency, a rare severe cause of mitochondrial DNA (mtDNA) depletion, has two forms of presentation: hepatocerebral syndrome and isolated hepatic disease. The authors report three cases with neonatal liver failure due to dGK deficiency. Consanguinity was present in all patients. One patient had a brother who died with a probable diagnosis of neonatal haemochromatosis. All patients had progressive cholestatic liver failure, hypoglycaemia, hyperlactacidaemia, elevated ferritin levels and nystagmus, since first day of life. Liver tissue study revealed: cholestasis, iron deposits, microvesicular steatosis and fibrosis/cirrhosis. Only one patient was submitted to liver transplantation. The other two died, at 2 and 5 months of age. mtDNA quantification and DGUOK gene study should be considered in infants/neonates with acute liver failure and systematically performed in patients with hepatocerebral presentation. Differential diagnosis with neonatal haemochromatosis is needed. Liver transplantation might be a therapeutic option. Early diagnosis is important for genetic counselling.
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PMID:Neonatal liver failure due to deoxyguanosine kinase deficiency. 2260 37

Cirrhosis is the 12th leading cause of death in the United States. Newer research has established that liver fibrosis is a dynamic process and that early cirrhosis may be reversible. Only one in three people with cirrhosis knows they have it. Most patients with cirrhosis remain asymptomatic until the onset of decompensation. When clinical signs, symptoms, or abnormal liver function tests are discovered, further evaluation should be pursued promptly. The most common causes of cirrhosis are viral hepatitis, alcoholic liver disease, and nonalcoholic steatohepatitis. Initial workup includes viral hepatitis serologies, ferritin, transferrin saturation, and abdominal ultrasonography as well as complete blood count, liver function tests, and prothrombin time/international normalized ratio, if not already ordered. Additional testing is based on demographics and risk factors. Common serum and ultrasound-based screening tests to assess fibrosis include the aspartate transaminase to platelet ratio index score, Fibrosis 4 score, FibroTest/FibroSure, nonalcoholic fatty liver fibrosis score, standard ultrasonography, and transient elastography. Generally, noninvasive tests are most useful in identifying patients with no to minimal fibrosis or advanced fibrosis. Chronic liver disease management includes directed counseling, laboratory testing, and ultrasound monitoring. Treatment goals are preventing cirrhosis, decompensation, and death. Varices are monitored with endoscopy and often require prophylaxis with nonselective beta blockers. Ascites treatment includes diuresis, salt restriction, and antibiotic prophylaxis for spontaneous bacterial peritonitis, when indicated. Hepatic encephalopathy is managed with lifestyle and nutritional modifications and, as needed, with lactulose and rifaximin. Hepatocellular carcinoma screening includes ultrasound screening every six months for patients with cirrhosis.
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PMID:Cirrhosis: Diagnosis and Management. 3184 76