AATD Liver Disease Differs in Kids, Adults

(MedPage Today) -- Discrepancies seen by age in risk factors for hepatic involvement in alpha-1 antitrypsin deficiency
Source: MedPage Today Gastroenterology - Category: Gastroenterology Source Type: news

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AbstractPurpose of ReviewCommonly categorized as a rare disease, alpha-1 antitrypsin deficiency (AATD) is neither rare, when compared to many other genetic disorders, nor an actual disease, but rather a predisposition toward a wide variety of diseases. It is one of the most common genetic disorders which can lead to a spectrum of clinical manifestations, ranging from no symptoms to progressively debilitating systemic disease, most commonly affecting the lung and liver. It is therefore imperative for clinicians to recognize and be familiar with the spectrum of presentations, methods of diagnosis, and clinical management of ...
Source: Current Allergy and Asthma Reports - Category: Allergy & Immunology Source Type: research
Investigating patients with chronic liver disease includes the search for an underlying etiology and disease staging to deduce a prognosis and provide therapeutic recommendations. The testing strategy will be determined by presentation and the specific clinical setting. Key questions in this context are to what extent and in what hierarchical order tests should be performed. Both are also determined by the epidemiology of a condition and by treatment options. How therapeutic progress affects testing is illustrated by the recent recommendation that all individuals aged 18 –79 should be tested for hepatitis C virus infection.
Source: Gastroenterology - Category: Gastroenterology Authors: Tags: Editorial Source Type: research
α1-Antitrypsin deficiency (AATD), characterised by reduced levels or functionality of α1-antitrypsin (AAT), is a significantly underdiagnosed genetic condition that predisposes individuals to lung and liver disease. Most of the available data on AATD are based on the most common, severe deficiency genotype (PI*ZZ); therefore, treatment and monitoring requirements for individuals with the PI*SZ genotype, which is associated with a less severe AATD, are not as clear. Recent genetic data suggest the PI*SZ genotype may be significantly more prevalent than currently thought, due in part to less frequent identificati...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Reviews Source Type: research
Authors: Rodrigues JF, Mineiro A, Reis A, Ventura DG, Fernandez-Llimos F, Costa F, Gomes J, Silva JM, Lopes P, Cordeiro CR Abstract Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and liver disease. There is currently no cure for alpha-1 antitrypsin deficiency. However, appropriate treatment and a high standard of clinical care can prevent patients from being seriously affected and having to undergo majo...
Source: Acta Medica Portuguesa - Category: General Medicine Tags: Acta Med Port Source Type: research
CONCLUSION: Our findings demonstrate that miR-320c inhibits SERPINA1 expression in a hepatic cell line and its levels in blood are associated with lung disease in a cohort of patients with different AAT serum levels. These results suggest that miR-320c can play a role in AAT regulation and could be a biomarker of inflammatory processes in pulmonary diseases. PMID: 32439252 [PubMed - as supplied by publisher]
Source: Archivos de Bronconeumologia - Category: Respiratory Medicine Authors: Tags: Arch Bronconeumol Source Type: research
Homozygosity for the Pi ∗Z variant of the gene that encodes the alpha-1 antitrypsin peptide (AAT), called the Pi∗ZZ genotype, causes a liver and lung disease called alpha-1 antitrypsin deficiency. Heterozygosity (the Pi∗MZ genotype) is a risk factor for cirrhosis in individuals with liver disease. Up to 4% of Caucasi ans have the Pi∗MZ genotype; we compared features of adults with and without Pi∗MZ genotype among persons without preexisting liver disease.
Source: Gastroenterology - Category: Gastroenterology Authors: Tags: Clinical Liver Source Type: research
Homozygosity for the Pi*Z variant of the gene that encodes the alpha-1 antitrypsin peptide (AAT), called the Pi*ZZ genotype, causes a liver and lung disease called alpha-1 antitrypsin deficiency. Heterozygosity (the Pi*MZ genotype) is a risk factor for cirrhosis in individuals with liver disease. Up to 4% of Caucasians have the Pi*MZ genotype; we compared features of adults with and without Pi*MZ genotype among persons without pre-existing liver disease.
Source: Gastroenterology - Category: Gastroenterology Authors: Source Type: research
AbstractThere are a variety of less common diffuse liver diseases that can be asymptomatic or cause severe liver dysfunction. For the majority of them, the association of clinical, laboratory, and imaging findings are needed to narrow the differential diagnosis. In this article, we will review and describe the rarer diffuse liver diseases including drug-related liver disease, inflammatory and infectious diseases, and deposition disorders such as amyloidosis, glycogen storage disease, Wilson ’s disease, and alpha-1 antitrypsin deficiency. Abdominal radiologists should be familiar with the imaging features of different...
Source: Abdominal Imaging - Category: Radiology Source Type: research
α1-antitrypsin deficiency (AATD) is a hereditary disorder associated with a risk of developing liver disease and pulmonary emphysema, and other chronic respiratory disorders (mainly asthma and bronchiectasis); Z variant is the commonest deficient variant of AAT. Determining AAT concentration in serum or plasma and identifying allelic variants by phenotyping or genotyping are fundamental in the diagnosis of AATD. Initial evaluation and annual follow-up measurement of lung function, including post-bronchodilator forced expiratory volume in 1 s and gas transfer inform on disease progression. Lung densitometry is th...
Source: European Respiratory Review - Category: Respiratory Medicine Authors: Tags: COPD and smoking, Genetics Review Source Type: research
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
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