Heterozygous α1‑antitrypsin deficiency in liver transplant candidates

Górska, Katarzyna; Korczyński, Piotr; Struniawski, Radosław; Krenke, Rafał; Ołdakowska‐Jedynak, Urszula; Grabczak, Elżbieta M.; Klimiuk, Joanna; Chorostowska‐Wynimko, Joanna; Chazan, Ryszarda; Zielinski, Jan M.; Krawczyk, Marek

doi:10.20452/pamw.1583

Cited by 7 publications

(5 citation statements)

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“…Whereas one study found male gender and obesity to be associated with the heterozygous genotype [31], another study found that alcoholic liver injury is aggravated by the PiMZ genotype [32]. A recent study from Poland in patients scheduled for liver transplantation found the PiMZ phenotype in 4 % of the patients [33], which is the same percentage that we found. This percentage is higher than in the general Polish population (1.75 %), but all of these patients had at least one cofactor (mainly alcohol or chronic hepatitis) that was responsible for liver cirrhosis.…”

supporting

confidence: 78%

Causes of altered liver function tests – the role of alpha-1 antitrypsin

2016

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Nonalcoholic fatty liver disease is nowadays the most frequent cause of altered liver tests. Alcoholic liver disease might be underrepresented in our study since these patients less often seek medical attention or the diagnosis is already made by the primary care physician. Drug-induced liver injury was found in more patients than expected and might therefore be underdiagnosed in practice. The alpha-1 antitrypsin genotype PiMZ was found in absence of other possible causes of liver disease, indicating that the PiMZ genotype is itself a risk factor for liver disease. Genotyping for alpha-1 antitrypsin should therefore be done when other causes for altered liver function tests have been ruled out.

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supporting

confidence: 78%

Causes of altered liver function tests – the role of alpha-1 antitrypsin

2016

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“…In 2010 two AATD screening programmes were initiated in Poland: one in patients with severe liver disease [17] and one targeted at patients with respiratory disorders, which is still ongoing and will be the focus of this section [18]. The patients in the respiratory programme were required to have a persistent obstructive disorder confirmed by spirometry.…”

Section: Polandmentioning

confidence: 99%

Targeted screening programmes in COPD: how to identify individuals with α₁-antitrypsin deficiency

Chorostowska‐Wynimko¹

2015

Eur Respir Rev

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α 1 -antitrypsin deficiency (AATD) is a significantly under-recognised autosomal genetic disorder with <10% of affected individuals being clinically diagnosed. Moreover, rigorous genetic epidemiological data regarding AATD are lacking. The majority of findings come from the USA and Western Europe, and no information is available for many countries. To address this concern, an α 1 -antitrypsin (AAT) laboratory was set up in 2009 at the National Institute of Tuberculosis and Lung Diseases (Warsaw, Poland). In 2010, an AATD screening programme targeting patients with respiratory disorders was initiated in Poland. This targeted survey has provided valuable information regarding AATdeficient genotypes, clinical disease and levels of expertise at the physician level. After 4 years, almost 2500 patients with chronic obstructive pulmonary disorders have been screened and, in this cohort, ∼13% had AATD alleles. In these patients, the detection frequency for S and Z alleles was four times greater, and the frequency of homozygous PI*ZZ was 16 times greater than that of the general population. These results highlight the need to build awareness in the medical community, and the project is currently being extended to cover central Eastern Europe, with the creation of the Central Eastern European Alpha-1 Antitrypsin Network. @ERSpublications Effective screening and diagnostic strategies for AATD are being implemented across central Eastern Europe http://ow.ly/H9Ibf

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“…It was previously reported that PiMZ heterozygous phenotype was related to liver enzyme abnormalities mainly in the first 6 months of life (6). In an adult study, the PiMZ phenotype was found an independent risk factor for the development of liver cirrhosis beyond the main causes such as chronic viral hepatitis (7). In our study, screening for alpha-1 antitrypsin deficiency revealed low levels in one patient with PiMZ heterozygous phenotyped which may be a risk factor for NAFLD related liver fibrosis in adult life.…”

Section: Discussionmentioning

confidence: 84%

Obez çocuklarda alkolik olmayan yağlı karaciğer hastalığı ve eşlik eden diğer karaciğer hastalıkları

Kırşaçlıoğlu¹,

Sanrı²,

Hızal³

et al. 2019

Turkish Journal of Pediatric Disease

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Objective:The prevalence of non-alcoholic fatty liver disease (NAFLD) in children increased parallel to the increment of childhood obesity. Also, NAFLD may be the presenting feature of different liver diseases in non-obese children. We aimed to determine whether there were co-existing liver diseases in overweight and obese children with NAFLD. Material and Methods:Pediatric gastroenterology outpatient clinic records of obese and overweight patients, aged between 5-18 years, were retrospectively reviewed. Seventy patients who had liver steatosis on ultrasonography, and alanine aminotransferase (ALT) levels were higher than 1.5 times the upper limit of normal were recruited to the study. The demographic findings, laboratory tests for infectious, metabolic, and autoimmune causes, abdominal ultrasonography and liver biopsy findings of patients were recorded.Results: At presentation, 94.2% of the patients (n: 66) had mild transaminase elevation. All patients were negative for viral hepatitis, anti-tissue transglutaminase immunoglobulin (Ig) A, anti-liver-kidney-microsome type 1 and anti-smooth muscle antibody. They had normal erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), ceruloplasmin, and total IgG levels. Only one patient with low alpha-1 antitrypsin levels had heterozygotes of the PiMZ phenotype. Three (4.3%) patients had antinuclear antibody (ANA) positivity. 44.7% of patients were given ursodeoxycholic acid treatment. On follow-up, normalization of ALT was achieved in 31 (44.2%) patients at mean 6.1±4.6 (2-19) months, but no relation was found between normalization and ursodeoxycholic acid treatment. A patient with ANA positivity had increased ALT, ESR, CRP, IgG levels and ANA titers on follow-up, and she was diagnosed with autoimmune hepatitis with the support of liver biopsy. Under prednisolone and azathioprine treatment, ESR and IgG levels were normalized, ALT and ANA titers decreased. Conclusion:Other causes of chronic hepatitis should be screened in obesity-related non-alcoholic fatty liver disease and the development of autoimmune hepatitis should be kept in mind in the presence of ANA. ÖZAmaç: Çocuklarda obezitede artışa parallel olarak alkolik olmayan yağlı karaciğer hastalığı (AOYKH) da giderek artmaktadır. Ancak obez olmayan çocuklarda, farklı karaciğer hastalıklarında da karaciğer yağlanması görülebilir. Bu çalışmada aşırı kilolu ve obez çocuklarda, AOYKH'ye eşlik edebilecek diğer karaciğer hastalıklarının belirlenmesi amaçlandı. Gereç ve Yöntemler:Polikliniğimizde aşırı kilo ya da obezite ile izlenen, 5-18 yaş aralığındaki hastaların dosyaları geriye dönük tarandı. Ultrasonografide karaciğerde yağlanma ve normalin üst sınırından en az 1.5 kat kadar alanin transaminaz (ALT) yüksekliği olan 70 hasta çalışmaya alındı. Hastaların demografik verileri, enfeksiyöz, metabolik ve otoimmun nedenler için yapılan laboratuvar testleri, abdominal ultrasonografi ve karaciğer biyopsi bulguları kaydedildi.Bulgular: Tanıda olguların %94.2'ünde (66 olgu) hafif transaminaz yüksekliği vardı. Tanıda viral...

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Heterozygous α1‑antitrypsin deficiency in liver transplant candidates

Cited by 7 publications

References 0 publications

Causes of altered liver function tests – the role of alpha-1 antitrypsin

Causes of altered liver function tests – the role of alpha-1 antitrypsin

Targeted screening programmes in COPD: how to identify individuals with α₁-antitrypsin deficiency

Obez çocuklarda alkolik olmayan yağlı karaciğer hastalığı ve eşlik eden diğer karaciğer hastalıkları

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Heterozygous α1‑antitrypsin deficiency in liver transplant candidates

Cited by 7 publications

References 0 publications

Causes of altered liver function tests – the role of alpha-1 antitrypsin

Causes of altered liver function tests – the role of alpha-1 antitrypsin

Targeted screening programmes in COPD: how to identify individuals with α1-antitrypsin deficiency

Obez çocuklarda alkolik olmayan yağlı karaciğer hastalığı ve eşlik eden diğer karaciğer hastalıkları

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Targeted screening programmes in COPD: how to identify individuals with α₁-antitrypsin deficiency