Doctors misdiagnosed teenager with fatal liver disease as 'moody' 

Sam Fitzgerald, 15, from Irthlingborough, Northamptonshire, was diagnosed with Wilson's disease, where copper gathers in the liver and brain, leading to fits of rage and a loss of motor control.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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CONCLUSIONS: Beside the role in the first diagnostic step of liver injuries, the utility of liver transaminases is also maintained during the follow-up of liver diseases and in their prognostic assessment. PMID: 31994373 [PubMed - as supplied by publisher]
Source: Minerva Gastroenterologica e Dietologica - Category: Gastroenterology Tags: Minerva Gastroenterol Dietol Source Type: research
Authors: Prasad D, Bhriguvanshi A Abstract Liver and eyes are interlinked to each other in various medical conditions. There are certain ocular findings which directly indicate specific liver disorders. Thus, it becomes critical to identify disorders of liver and eyes early in the course of illness, so that prompt management may be initiated before the commencement of complications. It is highly advantageous in metabolic liver disorders as it offers prognostic value and spares the patient of unnecessary invasive and detailed work up. However, due to its silent and heterogeneous presentation, it is often unrecognize...
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research
This study outlines abdominal computed tomography (CT) imaging findings that occur more frequently in patients with WD cirrhosis.
Source: Journal of Medical Imaging and Radiation Sciences - Category: Radiology Authors: Tags: Research Article Source Type: research
ConclusionLow serum ceruloplasmin levels were documented in 4.0% of adult patients without WD attending this urban liver diseases outpatient clinic. These patients tend to be younger, less often men, and more often have viral hepatitis as the underlying cause of their liver disease.
Source: Journal of Clinical and Experimental Hepatology - Category: Gastroenterology Source Type: research
Conclusion: Liver transplantation is needed in a number of cases of Wilson's disease. The ideal indication and timing of transplantation may improve the survival of the patients. Orv Hetil. 2019; 160(51): 2021-2025. PMID: 31838861 [PubMed - in process]
Source: Orvosi Hetilap - Category: General Medicine Authors: Tags: Orv Hetil Source Type: research
CONCLUSIONS: The cut-offs used for caeruloplasmin, 24-hour urinary copper and hepatic copper for diagnosing Wilson's disease are method-dependent and require validation in the population in which such index tests are going to be used. Binary cut-offs and use of single-test strategies to rule Wilson's disease in or out is not supported by the evidence in this review. There is insufficient evidence to inform testing in specific subgroups, defined by age, ethnicity or clinical subgroups. PMID: 31743430 [PubMed - in process]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
CONCLUSION: PFIC3 and WD display pleomorphic and sometimes overlapping clinical and laboratory features, which may pose a differential diagnostic problem. Since the patient management in WD and PFIC3 differs significantly, an early and accurate diagnosis is crucial for optimising of therapeutic approach and prevention of possible complications. PMID: 31728073 [PubMed - as supplied by publisher]
Source: Biomedical Papers of the Medical Faculty of the Univ Palacky Olomouc Czech Repub - Category: Biomedical Science Tags: Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub Source Type: research
is a rare progressive genetic disorder of copper metabolism associated with hepatolenticular degeneration. Left untreated, it results in severe disability and death. The diagnosis is very easily overlooked but, if discovered early, effective treatments are available to prevent or reverse many manifestations of this disorder. The role of copper in disease pathogenesis, coupled with clinical, biochemical and genetic markers, is pivotal to establishing a clear diagnosis. Medical therapy involves chelating agents (e.g.
Source: Medicine - Category: Internal Medicine Authors: Tags: Metabolic liver disease Source Type: research
This article describes hereditary hemochromatosis, Gilbert syndrome, alpha-1 antitrypsin deficiency, Wilson disease, PFIC, BRIC, and LAL-D. The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. Gilbert syndrome is a benign cause of indirect hyperbilirubinemia. Alpha-1 antitrypsin deficiency causes both lung and liver disease. Wilson disease can cause neurologic disease and liver disease. Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis are rare causes of cholestasis. LAL-D is a rare disease that can appear similar to NAFLD in adults. PMID: 3...
Source: The Medical Clinics of North America - Category: General Medicine Authors: Tags: Med Clin North Am Source Type: research
This article describes hereditary hemochromatosis, Gilbert syndrome, alpha-1 antitrypsin deficiency, Wilson disease, PFIC, BRIC, and LAL-D. The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. Gilbert syndrome is a benign cause of indirect hyperbilirubinemia. Alpha-1 antitrypsin deficiency causes both lung and liver disease. Wilson disease can cause neurologic disease and liver disease. Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis are rare causes of cholestasis. LAL-D is a rare disease that can appear similar to NAFLD in adults.
Source: Medical Clinics of North America - Category: Primary Care Authors: Source Type: research
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