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Alpha 1 antitrypsin deficiency

Timm Greulich, Francisco Rodríguez-Frias, Irene Belmonte, Andreas Klemmer, Claus F Vogelmeier, Marc Miravitlles
BACKGROUND: Alpha-1-Antitrypsin (AAT) deficiency (AATD) is a hereditary disorder that manifests primarily as pulmonary emphysema and liver cirrhosis. The clinically most relevant mutation causing AATD is a single nucleotide polymorphism Glu342Lys (Z-mutation). Despite the recommendation to test every COPD patient, the condition remains severely underdiagnosed with a delay of several years between first symptoms and diagnosis. The Grifols' AlphaKit® QuickScreen is a novel qualitative point-of-care (POC) in vitro screening test developed for the detection of the Z AAT protein in capillary whole blood...
August 13, 2018: Respiratory Research
Terence R Flotte
No abstract text is available yet for this article.
August 2018: Human Gene Therapy
A Wilke, H Semper, C Gross, C Grohé
BACKGROUND: Augmentation with human alpha-1 proteinase inhibitor is the only specific treatment for Alpha-1-Antitrypsin Deficiency (AATD), a rare genetic disease with symptoms of progressive COPD. OBJECTIVES: A prospective long-term exploration of outcomes during the "Alpha-1-Mobile" home care AAT augmentation program in seven advanced-stage patients. METHODS: Patients received weekly i. v. AAT augmentation and COPD therapy. Symptoms, lung function, health status, quality-of-life aspects, and safety were documented continuously...
August 2018: Pneumologie
Sofia Lopes, Carla Damas, Filomena Azevedo, Alberto Mota
No abstract text is available yet for this article.
July 2018: Indian Journal of Dermatology
Youcai Tang, Keith S Blomenkamp, Peter Fickert, Michael Trauner, Jeffrey H Teckman
Alpha-1 Antitrypsin (α1AT) Deficiency is a genetic disease in which accumulation of α1AT mutant Z (α1ATZ) protein in the ER of hepatocytes causes chronic liver injury, liver fibrosis, and hepatocellular carcinoma. No effective medical therapy is currently available for the disease. We previously found that norUDCA improves the α1AT deficiency associated liver disease by promoting autophagic degradation of α1ATZ protein in liver in a mouse model of the disease. The current study unravels the novel underlying cellular mechanism by which norUDCA modulates autophagy...
2018: PloS One
S Warner, P J McKiernan, J Hartley, E Ong, I D van Mourik, G Gupte, M Abdel-Hady, P Muiesan, M T P R Perera, D Mirza, K Sharif, D A Kelly, S V Beath
Hepatopulmonary syndrome (HPS) in stable cirrhotic patients can easily be overlooked. We report on the presenting symptoms, disease progression and outcomes post liver transplantation (LT) in children with HPS. SUBJECTS AND METHODS: 20patients were diagnosed with HPS between 1996-2016. Aetiologies: Biliary atresia n = 9, Alpha-1-antitrypsin deficiency n = 2, Cryptogenic liver disease n = 3, others n = 6. FINDINGS: HPS presentation: dyspnoea n = 17, cyanosis n = 8 and pneumonia n = 3...
July 31, 2018: Liver Transplantation
Kathleen M Loomes, Cathie Spino, Nathan P Goodrich, Thomas N Hangartner, Amanda E Marker, James E Heubi, Binita M Kamath, Benjamin L Shneider, Philip Rosenthal, Paula M Hertel, Saul J Karpen, Jean P Molleston, Karen F Murray, Kathleen B Schwarz, Robert H Squires, Jeffrey Teckman, Yumirle P Turmelle, Estella M Alonso, Averell H Sherker, John C Magee, Ronald J Sokol
Osteopenia and bone fractures (fx) are significant causes of morbidity in children with cholestatic liver disease. Dual-energy X-ray absorptiometry (DXA) analysis was performed in children with intrahepatic cholestatic diseases who were enrolled in the Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC) in the Childhood Liver Disease Research Network (ChiLDReN). DXA was performed on participants age > 5 years (with native liver) diagnosed with bile acid synthetic disorder (BASD), alpha-1 antitrypsin deficiency (A1AT), chronic intrahepatic cholestasis (CIC), and Alagille syndrome (ALGS)...
July 31, 2018: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Dandi Qiao, Asher Ameli, Dmitry Prokopenko, Han Chen, Alvin T Kho, Margaret M Parker, Jarrett Morrow, Brian D Hobbs, Yanhong Liu, Terri H Beaty, James D Crapo, Kathleen C Barnes, Deborah A Nickerson, Michael Bamshad, Craig P Hersh, David A Lomas, Alvar Agusti, Barry J Make, Peter M A Calverley, Claudio F Donner, Emiel F Wouters, Jørgen Vestbo, Peter D Paré, Robert D Levy, Stephen I Rennard, Ruth Tal-Singer, Margaret R Spitz, Amitabh Sharma, Ingo Ruczinski, Christoph Lange, Edwin K Silverman, Michael H Cho
Chronic obstructive pulmonary disease (COPD), one of the leading causes of death worldwide, is substantially influenced by genetic factors. Alpha-1 antitrypsin deficiency demonstrates that rare coding variants of large effect can influence COPD susceptibility. To identify additional rare coding variants in patients with severe COPD, we conducted whole exome sequencing analysis in 2,543 subjects from two family-based studies (Boston Early-Onset COPD Study and International COPD Genetics Network) and one case-control study (COPDGene)...
July 27, 2018: Human Molecular Genetics
Marianne S Morseth, Tor A Strand, Liv Elin Torheim, Ram K Chandyo, Manjeswori Ulak, Sanjaya K Shrestha, Binob Shrestha, Sigrun Henjum
BACKGROUND: Nutrient deficiencies limit the growth and turnover of intestinal mucosa, but studies assessing whether specific nutrients protect against or improve environmental enteric dysfunction (EED) are scarce. We aimed to investigate associations between nutrient intake and EED assessed by lactulose:mannitol (L:M) ratio, anti-1-antitrypsin, myeloperoxidase (MPO), and neopterin (NEO) among children 9-24 months in Bhaktapur, Nepal. METHODS: Among 231 included children, nutrient intake was assessed monthly by 24 h recalls, and 3-month usual intake was estimated using Multiple Source Method...
July 20, 2018: Pediatric Research
Robert A Stockley, Ross G Edgar, Sian Starkey, Alice M Turner
BACKGROUND: Trials of disease modifying therapies in Chronic Obstructive Pulmonary Disease (COPD) provide challenges for detecting physiological and patient centred outcomes. The purpose of the current study was to monitor decline in health status in Alpha-1 antitrypsin deficiency (AATD) and determine its' relationship to conventional physiology. METHODS: Patients recruited to the UK-AATD database with a median follow up of 7 years (IQR 5-10) were studied to determine annual change in St George's Respiratory Questionnaire (SGRQ), FEV1 , gas transfer and their feasibility of use in future trials...
July 20, 2018: Respiratory Research
Michael K Y Hsin, Chi Fong Wong, See Wan Yan, Katherine Y Fan, Cally K L Ho, Inderjeet Bhatia, Timmy W K Au
Clinical lung transplant was first performed in Hong Kong in 1995. In the early years, the volume of activity was very low. There has been a clear trend of increasing volume in the past few years. The recipient pathology is very different from the International Society for Heart and Lung Transplantation (ISHLT) database, with complete absence of cystic fibrosis and alpha-1-antitrypsin deficiency, and a predominance of diseases of the pulmonary circulation. Lymphangioleiomyomatosis (LAM) has a much higher representation on the waiting list than the ISHLT...
June 2018: Journal of Thoracic Disease
Emer P Reeves, Ciara A O'Dwyer, Danielle M Dunlea, Mark R Wormald, Padraig Hawkins, Mohammad Alfares, Darrell N Kotton, Steven M Rowe, Andrew A Wilson, Noel G McElvaney
No abstract text is available yet for this article.
July 16, 2018: American Journal of Respiratory and Critical Care Medicine
Brendan Connolly, Cleo Isaacs, Lei Cheng, Kirtika H Asrani, Romesh R Subramanian
Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder that produces inactive/defective AAT due to mutations in the SERPINA1 gene encoding AAT. This disease is associated with decreased activity of AAT in the lungs and deposition of excessive defective AAT protein in the liver. Currently there is no specific treatment for liver disease associated with AAT deficiency. AAT lung disease is often treated with one of several serum protein replacement products; however, long-term studies of the effectiveness of SerpinA1 replacement therapy are not available, and it does not reduce liver damage in AAT deficiency...
2018: Journal of Nucleic Acids
María Torres-Durán, José Luis Lopez-Campos, Miriam Barrecheguren, Marc Miravitlles, Beatriz Martinez-Delgado, Silvia Castillo, Amparo Escribano, Adolfo Baloira, María Mercedes Navarro-Garcia, Daniel Pellicer, Lucía Bañuls, María Magallón, Francisco Casas, Francisco Dasí
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. METHODS: In this review, we summarise and update current knowledge on alpha-1 antitrypsin deficiency in order to identify and discuss areas of controversy and formulate questions that need further research...
July 11, 2018: Orphanet Journal of Rare Diseases
Anthony P Fiegen, B Joel Tjarks, Tanner J Ferguson, Renita A Goetz, Allie E Ladd, Kimberlee C Tams
Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion. The primary manifestation of AAT is early-onset pulmonary disease, while hemochromatosis primarily affects function of the liver, heart, and pancreas through excess iron deposition. No clear association between the two diseases has been delineated. We present a case in which a 34-year old female patient presenting with elevated liver enzymes during a visit for an unrelated acute illness was found to be a homozygous variant for AAT deficiency and hereditary hemochromatosis...
March 2018: South Dakota Medicine: the Journal of the South Dakota State Medical Association
Zineb Jouhadi, Marie Francoise Odou, Farid Zerimech, Ahmed Aziz Bousfiha, Nabiha Mikou, Nicole Porchet, Michel Crepin, Jilali Najib, Malika Balduyck
Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here we report a very rare alpha-1 antitrypsin Null Q0cairo homozygous mutation characterized by a complete absence of alpha-1 antitrypsin in the plasma, in a non-consanguineous Moroccan family. This mutation has been previously described in heterozygosis in only three cases worldwide: an Italian/Egyptian family and two Italian families (Zorzetto et al...
2018: Respiratory Medicine Case Reports
Marinos Pericleous, Claire Kelly, Aftab Ala, Simon De Lusignan
INTRODUCTION: The chronic care model (CCM) provides a holistic approach for managing chronic illnesses. Patients with rare liver diseases (RLD) have complex needs, impaired quality of life and often life-threatening complications. Most RLD meet the criteria for a long-term chronic condition and should be viewed through the prism of CCM. We aimed to ascertain whether the CCM has been considered for the frequently-encountered RLD. METHODS: MEDLINE®/PubMed®/Cochrane/EMBASE were searched to identify publications relating to the use of the CCM for the management of six RLD...
August 2018: Expert Review of Gastroenterology & Hepatology
Amber M D'Souza, Rachana Shah, Anita Gupta, Alexander J Towbin, Maria Alonso, Jaimie D Nathan, Alex Bondoc, Greg Tiao, James I Geller
BACKGROUND: Hepatocellular carcinoma (HCC) is an aggressive malignant neoplasm that is often chemoresistant. Complete surgical resection remains the mainstay of therapy. The role of liver transplantation (LT) in pediatric HCC is in evolution, as is the role of adjuvant chemotherapy for stage I disease. METHODS: A retrospective review of patients < 18 years of age with completely resected HCC treated with surgical intervention alone at our institution from 2004 to 2015 was conducted...
July 3, 2018: Pediatric Blood & Cancer
Myriam Calle Rubio, Joan B Soriano, José Luis López-Campos, Juan J Soler-Cataluña, Bernardino Alcázar Navarrete, José Miguel Rodríguez González-Moro, Marc Miravitlles, Miriam Barrecheguren, Manuel E Fuentes Ferrer, Juan Luis Rodriguez Hermosa
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is the most common hereditary disorder in adults, but is under-recognized. In Spain, the number of patients diagnosed with AATD is much lower than expected according to epidemiologic studies. The objectives of this study were to assess the frequency and determinants of testing serum α1-antitrypsin (AAT) levels in COPD patients, and to describe factors associated with testing. METHODS: EPOCONSUL is a cross-sectional clinical audit, recruiting consecutive COPD cases over one year...
2018: PloS One
Emanuela Filipas, Iain Southern, Pooja Khanna, Ritwik Banerjee
This is a reminder of a rare cause of osteoporosis that remains widely underdiagnosed and lacks specific evidence on its optimal management. We bring a case report of a patient presenting with erectile dysfunction and high testosterone level but also elevated sex-hormone binding globulin hence low free androgen index as well as evidence of organ specific hypogonadal side effects such as osteoporosis. A unifying diagnosis of alpha-1 antitrypsin deficiency (AATD) brought together his coexistent mild chronic obstructive pulmonary disease as well as a new finding of previously unrecognised liver disease...
June 27, 2018: BMJ Case Reports
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