Investigation of paediatric liver disease

1991 ◽  
Vol 14 (4) ◽  
pp. 531-537 ◽  
Author(s):  
D. Kelly ◽  
A. Green
Keyword(s):  
Liver Disease ◽  
Paediatric Liver Disease

Clinical approach to paediatric liver disease

2019 ◽  
pp. 105-113
Author(s):  
Jeffrey H. Teckman ◽  
Dhiren Patel
Keyword(s):  
Liver Disease ◽  
Clinical Approach ◽  
Paediatric Liver Disease

scholarly journals The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges

Genes ◽  
2021 ◽  
Vol 12 (11) ◽  
pp. 1837
Author(s):  
Rebecca Jeyaraj ◽  
Kirsten McKay Bounford ◽  
Nicola Ruth ◽  
Carla Lloyd ◽  
Fiona MacDonald ◽  
...  
Keyword(s):  
Liver Disease ◽  
Phenotypic Variability ◽  
Bile Secretion ◽  
Disease Associations ◽  
Paediatric Liver Disease ◽  
Causal Variants ◽  
Potential Benefits ◽  
Infantile Cholestasis ◽  
Neonates And Infants ◽  
Patient Subgroups

Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing methods can facilitate a prompt diagnosis in some of these cases; application of these methods in patients with liver diseases of unknown cause has also uncovered novel gene-disease associations and improved our understanding of physiological bile secretion and flow. By helping to define the molecular basis of certain cholestatic disorders, these methods have also identified new targets for therapy as well patient subgroups more likely to benefit from specific therapies. At the same time, sequencing methods have presented new diagnostic challenges, such as the interpretation of single heterozygous genetic variants. This article discusses those challenges in the context of neonatal and infantile cholestasis, focusing on difficulties in predicting variant pathogenicity, the possibility of other causal variants not identified by the genetic screen used, and phenotypic variability among patients with variants in the same genes. A prospective, observational study performed between 2010–2013, which sequenced six important genes (ATP8B1, ABCB11, ABCB4, NPC1, NPC2 and SLC25A13) in an international cohort of 222 patients with infantile liver disease, is given as an example of potential benefits and challenges that clinicians could face having received a complex genetic result. Further studies including large cohorts of patients with paediatric liver disease are needed to clarify the spectrum of phenotypes associated with, as well as appropriate clinical response to, single heterozygous variants in cholestasis-associated genes.

Young adults with paediatric liver disease: future challenges

2016 ◽  
Vol 102 (1) ◽  
pp. 8-9 ◽  
Author(s):  
A Dhawan ◽  
M Samyn ◽  
D Joshi
Keyword(s):  
Young Adults ◽  
Liver Disease ◽  
Future Challenges ◽  
Paediatric Liver Disease

Hepatic fibrosis in paediatric liver disease

2012 ◽  
Vol 36 (3) ◽  
pp. 268-270 ◽  
Author(s):  
Imeke Goldschmidt ◽  
Ulrich Baumann
Keyword(s):  
Liver Disease ◽  
Hepatic Fibrosis ◽  
Paediatric Liver Disease

Non-alcoholic Fatty Liver Disease in Children

2010 ◽  
Vol 06 ◽  
pp. 60
Author(s):  
Melania Manco ◽  
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Fatty Liver Disease ◽  
Alcoholic Fatty Liver ◽  
Obesity Epidemic ◽  
The Metabolic Syndrome ◽  
Paediatric Liver Disease ◽  
Excessive Consumption ◽  
Refined Carbohydrates ◽  
Alcoholic Fatty Liver Disease

Non-alcoholic fatty liver disease (NAFLD) is the most common cause of paediatric liver disease. It is the hepatic component of the metabolic syndrome (MetS), being almost always associated with obesity and insulin resistance, and frequently with abnormal triglyceride and/or cholesterol levels, abnormal blood pressure and impaired glucose tolerance. Its increasing prevalence among children and adolescents has been attributed to the obesity epidemic and the modern western lifestyle, with excessive consumption of refined carbohydrates and saturated fats in combination with low levels of physical activity. Key questions need to be answered concerning the potential progression of NAFLD towards more severe forms of liver derangement, the worth of performing biopsies in children with suspected NAFLD and the role played by the disease in promoting and anticipating the onset of cardiovascular disease (CVD) at an unexpectedly early age. The clinical relevance of these questions is undoubted, as NAFLD may cause significantly increased morbidity and mortality in adulthood.

scholarly journals HYALURONIC ACID AS A NON-INVASIVE PREDICTOR OF FIBROSIS IN PAEDIATRIC LIVER DISEASE

2005 ◽  
Vol 40 (5) ◽  
pp. 676-677
Author(s):  
JL Hartley ◽  
RM Brown ◽  
A Tybulewicz ◽  
P Hayes ◽  
D Wilson ◽  
...  
Keyword(s):  
Hyaluronic Acid ◽  
Liver Disease ◽  
Non Invasive ◽  
Paediatric Liver Disease

Paediatric Liver Disease

2013 ◽  
pp. 361-371
Author(s):  
Giorgina Mieli-Vergani ◽  
Rodrigo Liberal ◽  
Diego Vergani
Keyword(s):  
Liver Disease ◽  
Paediatric Liver Disease

scholarly journals Autoimmune paediatric liver disease

2008 ◽  
Vol 14 (21) ◽  
pp. 3360 ◽  
Author(s):  
Giorgina Mieli-Vergani ◽  
Diego Vergani
Keyword(s):  
Liver Disease ◽  
Paediatric Liver Disease

Transient elastography for assessment of fibrosis in paediatric liver disease

2011 ◽  
Vol 41 (10) ◽  
pp. 1232-1238 ◽  
Author(s):  
Valerio Nobili ◽  
Lidia Monti ◽  
Anna Alisi ◽  
Cristina Lo Zupone ◽  
Andrea Pietrobattista ◽  
...  
Keyword(s):  
Liver Disease ◽  
Transient Elastography ◽  
Paediatric Liver Disease
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