A deficiência de alfa-1-antitripsina é uma doença genética que se manifesta na idade adulta. Ela é caracterizada por problemas crônicos no fígado (como cirrose), problemas respiratórios (como enfisema) e, mais raramente, uma inflamação na gordura debaixo da pele (paniculite).
Introdução
O que você precisa saber de cara
A deficiência de alfa-1 antitripsina é um distúrbio hereditário que pode causar doença pulmonar e doença hepática. Os sinais e sintomas da condição e a idade em que aparecem variam entre os indivíduos.
Pessoas com a condição geralmente desenvolvem os primeiros sinais e sintomas de doença pulmonar entre 25 e 50 anos de idade. Os sintomas mais precoces são falta de ar após atividade leve, capacidade reduzida para se exercitar e chiado. Outros sinais e sintomas podem incluir perda de peso não intencional, infecções respiratórias recorrentes e fadiga. Indivíduos afetados frequentemente desenvolvem enfisema, que é uma doença pulmonar causada por dano aos pequenos sacos de ar nos pulmões (alvéolos). As características típicas do enfisema incluem dificuldade para respirar, tosse seca e peito em forma de barril. Fumar ou a exposição à fumaça de tabaco acelera o aparecimento dos sintomas de enfisema e o dano aos pulmões.
Cerca de 10 por cento dos bebês com a condição desenvolvem doença hepática, que frequentemente causa amarelamento da pele e da parte branca dos olhos (icterícia). Aproximadamente 15 por cento dos adultos com a condição desenvolvem dano hepático (cirrose) devido à formação de tecido cicatricial no fígado. Os sinais de cirrose incluem abdômen inchado e icterícia. Pessoas com a condição também correm risco de desenvolver um tipo de câncer de fígado chamado carcinoma hepatocelular.
Em casos raros, pessoas com a condição desenvolvem uma doença de pele chamada paniculite, que se caracteriza por pele endurecida com nódulos ou manchas dolorosas. A paniculite varia em gravidade e pode ocorrer em qualquer idade.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoA deficiência de alfa-1-antitripsina é uma doença genética que se manifesta na idade adulta. Ela é caracterizada por problemas crônicos no fígado (como cirrose), problemas respiratórios (como enfisema) e, mais raramente, uma inflamação na gordura debaixo da pele (paniculite).
O que está sendo pesquisado
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Curadoria gene-doença
fontes oficiaisAlpha-1-antitrypsin deficiency
An autosomal recessive disorder characterized by serum levels of alpha-1-antitrypsin below the normal range, and an increased risk for developing pulmonary emphysema and, to a lesser extent, chronic liver disease. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age.
Medicamentos e terapias
Mecanismo: Histamine H1 receptor antagonist
Variantes genéticas (ClinVar)
134 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 420 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
6 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
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Outros ensaios clínicos
138 ensaios clínicos encontrados, 34 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.270
Original research: Amplification of genetic and metabolic factors in alpha-1 antitrypsin deficiency.
Severe (Pi*ZZ) and heterozygous (Pi*MZ) alpha-1 antitrypsin deficiency (AATD) confer increased liver- and lung-related mortality, but the phenotype is highly variable. We aimed to evaluate the impact of obesity and diabetes mellitus on individuals with/without AATD. Cohort 1 prospectively recruited 1678 Pi*ZZ adults from an international initiative with a systematic liver assessment. 983 participants had a longitudinal follow-up. The data were compared to 16,768 Pi*MZ and 415,208 non-AATD individuals from the United Kingdom Biobank (cohort 2). Findings were ascertained by multivariable adjustment and propensity score matching. At baseline, diabetes was present in 52 (3%), overweight (BMI 25.0-29.9 kg/m2) in 540 (52%) and obesity (BMI≥30 kg/m2) in 266 (32%) Pi*ZZ adults. Pi*ZZ individuals with diabetes showed higher transaminases and surrogates of advanced liver fibrosis (APRI≥1.0, LSM≥15 kPa) were four to six times more common (adjusted Odds Ratio (aOR) 5.7/4.3, p<0.01). Elevated transaminases were rare among lean Pi*ZZ subjects, but more common in overweight (aOR 1.5/2.0) and obese Pi*ZZ participants (aOR 2.1/2.9). APRI≥1.0 was more than four times elevated in obese vs. lean Pi*ZZ individuals (aOR 4.1, p<0.001). During a median follow-up of 4.2 years, 54 Pi*ZZ participants experienced a hepatic and 64 a pulmonary endpoint. While Pi*ZZ participants with diabetes/obesity had an increased risk of hepatic endpoints (aHR 6.03/3.38, p<0.001) compared with non-diabetic/lean Pi*ZZ subjects, overweight was associated with a decreased risk of pulmonary endpoints (aHR 0.45, p=0.004). Our data demonstrate the interaction between genetic and metabolic risk factors in AATD and provide evidence for patient management.
Prevalence of liver disease and liver transplantation in pediatric ZZ alpha-1 antitrypsin deficiency: A systematic review and meta-analysis.
Pediatric Pi*ZZ alpha-1 antitrypsin deficiency (A1ATD) can cause hepatocyte A1AT polymer retention and progressive liver injury, but estimates of childhood liver morbidity vary across studies and remain poorly defined. To quantify liver-specific outcomes in pediatric Pi*ZZ A1ATD. We systematically reviewed studies reporting liver-specific outcomes in children with confirmed Pi*ZZ/ZZ A1ATD (PROSPERO CRD42022335666). We extracted prevalence of fibrosis and cirrhosis, elevated liver enzymes, and liver transplantation. Random-effects meta-analysis pooled logit-transformed proportions (with sensitivity analyses assessing robustness to model assumptions). Thirteen studies including 398 children met inclusion criteria. Pooled prevalence was 41.3% (95% CI 29.6-54.0) for fibrosis and 17.3% (7.2-35.9) for cirrhosis, with substantial heterogeneity for cirrhosis (I2 78.6%). Liver transplantation prevalence was 10.7% (6.3-13.0). Elevated liver enzymes occurred in 43.0% (19.2-70.5) with high heterogeneity (I2 89.4%). Across cohorts, the proportion with elevated liver enzymes declined with increasing mean age, despite ongoing liver disease in reported histology-based outcomes. Clinically important liver disease occurs in a substantial subset of children with Pi*ZZ A1ATD. Declining rates of elevated liver enzymes with age should not be interpreted as disease resolution. Standardized registries are needed for longitudinal surveillance, to identify disease modifiers, and to guide early intervention in this high-risk population.
Alpha-1 Antitrypsin Deficiency in Patients With Cirrhosis in a US National Cohort.
Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that increases susceptibility to chronic lung and liver diseases. There are limited data on testing rates in patients with cirrhosis. Guidelines recommend AATD testing in cryptogenic liver disease but not in patients with an established etiology. We aimed to quantify AATD testing patterns in a national cohort of patients with cirrhosis to inform guidelines. In this retrospective cohort study of veterans with a new diagnosis of cirrhosis between January 1, 2008 and January 31, 2020, with follow-up until February 23, 2023, we identified predictors of testing, and of severe AATD (alpha-1 antitrypsin [AAT] < 57 mg/dL or PiSZ/PiZZ phenotype/genotype). Of the 126,210 patients with cirrhosis, 42,403 (33.6%) were tested, including 38,189 (30.3%) for AAT levels only, 1,103 (0.8%) for genotype/phenotype only, and 3,011 (2.4%) for both. Factors associated with higher AATD testing included specialist evaluation and White race, whereas patients with chronic obstructive pulmonary disease, hepatitis B/C, hepatocellular carcinoma, and hepatic decompensation were less likely to be tested. Only half of the patients with AAT levels of <57 mg/dL underwent genotype/phenotype testing. Most patients (94.7%) with severe AATD-associated liver disease also had an alternate etiology of liver disease, including metabolic dysfunction associated with steatotic liver disease (53.6%) or viral hepatitis (16.1%), and would be missed if testing only patients with cryptogenic liver disease. AATD testing rates in veterans with cirrhosis are low, and patients at high-risk are less likely to be tested. Guidelines are needed to emphasize universal AATD testing in patients with cirrhosis regardless of the presence of other risk factors.
Isolated GGT elevation in prolonged neonatal jaundice: detection of heterozygous alpha-1 antitrypsin deficiency.
Prolonged neonatal jaundice is usually benign but can occasionally indicate serious hepatobiliary disease. Current UK guidelines emphasise bilirubin-based screening, which may overlook atypical biochemical profiles. A term neonate presented with persistent jaundice but was otherwise well, with normal stools and urine. Bilirubin levels were normal, yet gamma-glutamyl transferase (GGT) was markedly elevated at 1101 U/L. Further testing revealed reduced alpha-1 antitrypsin (A1AT) levels and PiMZ heterozygosity. Imaging showed no structural abnormality. Over follow-up, transaminases-alanine aminotransferase and aspartate aminotransferase-rose, suggesting evolving hepatic involvement. Isolated GGT elevation, though uncommon, may represent the earliest clue to hepatobiliary disease. Heterozygous A1AT deficiency is not always benign and warrants ongoing biochemical surveillance. Clinicians should interpret guideline frameworks carefully to ensure atypical but clinically significant disease presentations are not overlooked.
Advances in Precision Editing Therapies for Alpha-1 Antitrypsin Deficiency.
Genome and RNA editing modalities have revolutionized precision gene therapy, offering a safer alternative to traditional gene replacement approaches. Alpha-1 antitrypsin deficiency (AATD) is a compelling model for precision medicine because the disease mechanism is well defined-mutations in a single gene are responsible for both liver and lung pathology. In this review, we summarize the current preclinical and clinical efforts for AATD, with an emphasis on genome and RNA editing strategies.
Publicações recentes
AT2-intrinsic Z-AAT expression drives conserved inflammatory and proteotoxic stress responses and predisposes to emphysema.
Affinity Proteomics-Based Non-Invasive Detection of Clinically Significant Liver Disease.
Alpha-1 Antitrypsin Replacement Improves Walking Capacity in Subjects With Severe Deficiency.
From Birth to Midlife-Liver Function, Fibrosis and Mortality in Individuals with Severe Alpha-1-Antitrypsin Deficiency Identified by Neonatal Screening.
Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications.
📚 EuropePMC2.054 artigos no totalmostrando 196
Regenerative Nodule as a Diagnostic Dilemma in the Neonate With Acute Liver Failure and a Focal Liver Lesion.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyDevelopment and Validation of an Electronic Health Record Algorithm to Predict the Presence of Chronic Obstructive Pulmonary Disease.
International journal of chronic obstructive pulmonary diseaseOriginal research: Amplification of genetic and metabolic factors in alpha-1 antitrypsin deficiency.
Hepatology (Baltimore, Md.)Searching for alpha-1 antitrypsin deficiency in patients with bronchiectasis: reducing idiopathic cases.
Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e TisilogiaOptimising pulmonary rehabilitation for α1-antitrypsin deficiency: a qualitative study of patient and clinician perspectives.
ERJ open researchA guide to selecting high-performing antibodies for Alpha-1-antitrypsin (UniProt ID: P01009) for use in western blot, immunoprecipitation and flow cytometry.
F1000ResearchDemographic and physiologic differences between fibrotic and non-fibrotic CT subtypes of sarcoidosis.
ChestPrevalence of liver disease and liver transplantation in pediatric ZZ alpha-1 antitrypsin deficiency: A systematic review and meta-analysis.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverNovel mutation (Mangera-E288V) in alpha-1 antitrypsin deficiency.
Multidisciplinary respiratory medicineThe absence of the alpha-1 band in serum protein electrophoresis as a clue to diagnosis of alpha-1 antitrypsin deficiency panniculitis.
JAAD case reportsAlpha-1 antitrypsin deficiency: A persistently underrecognized condition.
Cleveland Clinic journal of medicineA state of the union on alpha-1 antitrypsin deficiency at the Veterans Health Administration.
Annals of the American Thoracic SocietyClinical implications of a novel SERPINA1 variant c.236 T > A: Challenges in characterizing new rare alpha-1 antitrypsin mutations.
Molecular genetics and metabolism reportsRadiomic profiling of chest CT in a cohort of sarcoidosis cases.
Scientific reportsAlpha-1 Antitrypsin Deficiency in Patients With Cirrhosis in a US National Cohort.
Clinical and translational gastroenterologyAlpha-1 Antitrypsin Deficiency: Current Landscape of Detection, Management, and Treatment.
Advances in therapyCharacteristics of bronchiectasis in patients with different genotypes of severe α1-antitrypsin deficiency from the EARCO registry.
ERJ open researchBronchiectasis in severe α1-antitrypsin deficiency: lessons for the pulmonologist.
ERJ open researchSevere Obesity and Alpha-1 Antitrypsin Deficiency-Associated COPD: A Dual Burden on Health and Quality of Life.
Chronic obstructive pulmonary diseases (Miami, Fla.)Robotic-assisted Left Pneumonectomy For Vanishing Lung Syndrome.
Journal of visualized experiments : JoVEIsolated GGT elevation in prolonged neonatal jaundice: detection of heterozygous alpha-1 antitrypsin deficiency.
BMJ case reportsFunctional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.
Respiratory researchNeutrophil-derived extracellular vesicles in the plasma of alpha-1 antitrypsin deficient individuals reveal pro-inflammatory metabolic and transcriptomic signatures.
Extracellular vesicleChronic Obstructive Pulmonary Disease in Never-Smokers-A Distinct Entity Within the COPD Spectrum.
Life (Basel, Switzerland)Advances in Precision Editing Therapies for Alpha-1 Antitrypsin Deficiency.
Human gene therapyAlpha-1 antitrypsin deficiency and cardiovascular disease: a review.
Respiratory researchAlpha-1 antitrypsin deficiency in bronchiectasis: Evidence for an overlooked entity beyond COPD: A retrospective observational study.
MedicineThe Alpha-1 Pi*MZ Genotype Is an Independent Risk Factor for Hepatocellular Carcinoma Development in Patients With ACLD.
Alimentary pharmacology & therapeuticsRoutine Blood Biomarkers in Patients With the PI*SZ Genotype of Alpha-1 Antitrypsin Deficiency: Data From the EARCO Registry.
Archivos de bronconeumologiaStretching the diagnosis: tracheobronchomegaly in alpha-1 antitrypsin deficiency or coexisting Mounier-Kuhn syndrome?
ThoraxEarly-onset bibasilar emphysema in a patient with PLCG2-related immune dysregulation.
Respiratory medicine case reportsRNA editing for the treatment of alpha-1 antitrypsin deficiency.
Nucleic acids researchCOVID-19 outcomes in individuals with severe alpha-1 antitrypsin deficiency in Sweden.
Scientific reportsAdvances in orphan drug development for alpha-1 antitrypsin deficiency: a 2025 update from the FDA and EMA.
Therapeutic advances in respiratory diseaseCirculating C-terminal peptides and polymers of alpha-1 antitrypsin as putative markers of pediatric Pi*ZZ liver disease.
Frontiers in pediatricsAlvelestat for alpha-1 antitrypsin deficiency-associated emphysema: the hope for an oral treatment.
The European respiratory journalCo-occurrence of Alpha-1 Antitrypsin Deficiency (AATD) and Common Variable Immunodeficiency (CVID): A Case Report.
CureusMulti-Society Expert Panel Consensus Guidance Regarding Clinical Assessment and Clinical Trial Endpoints in Adults With Alpha-1 Antitrypsin Deficiency-Associated Liver Disease.
GastroenterologyRapid design and production of Alpha-1 antitrypsin fusion proteins in a plant-based cell-free expression system.
Free radical biology & medicinePrevalence of SERPINA1 mutations in a bronchiectasis cohort: implications of extended screening for alpha-1 antitrypsin deficiency.
Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e TisilogiaInflammation-adjusted optimal serum cut-off alpha-1 antitrypsin values for detecting deficient patients: a cross-sectional analysis of the AVATAR cohort.
ERJ open researchQuantitative CT of emphysema, wall thickness and mucus plugs in alpha-1-antitrypsin deficiency: relationship to clinical outcomes.
European radiologyProtein Aggregates in Heterozygous Alpha-1 Antitrypsin Phenotype Is a Marker for Progressive Disease.
Gastro hep advancesIn Reference to Increased Risk of Cholesteatoma in Individuals With Alpha-1 Antitrypsin Deficiency: A Cohort Study.
The LaryngoscopeIn Response to Increased Risk of Cholesteatoma in Individuals With Alpha-1 Antitrypsin Deficiency: A Cohort Study.
The LaryngoscopePatient-reported outcome measures for use in patients with alpha-1-antitrypsin deficiency: results of a systematic selection process.
BMJ open respiratory researchThe phenotypic state of biallelic SERPINA1 Q0 variants in α1-antitrypsin deficiency.
ERJ open researchNeonatal-Onset Transient Subcutaneous Nodules as an Atypical Initial Presentation of Alpha-1 Antitrypsin Deficiency.
Pediatric dermatologyCharacterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact.
Orphanet journal of rare diseasesRare but relevant: Genetic liver disease in the general medical setting.
Clinical medicine (London, England)Lisdexamfetamine-Induced Angioedema and Leukocytoclastic Vasculitis: A Case Report.
The Australasian journal of dermatologyMolecular insights on the mechanism of α1-antitrypsin condensate formation and maturation.
PLoS computational biologyMatrix metalloproteinases and disease severity among PI*MZ and PI*ZZ individuals in the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) cohort.
BMJ open respiratory researchQuantitative analysis of chest computed tomography in alpha-1-antitrypsin deficiency.
Respiratory researchThe mechanism of pathogenic α1-antitrypsin aggregation in the human liver.
Proceedings of the National Academy of Sciences of the United States of AmericaCase Report: α1-antitrypsin deficiency causing persistent pleural effusion and multilobar alveolar emphysema in a young dog.
Frontiers in veterinary scienceRare liver diseases - Etiology, diagnosis and management: A review.
Biomolecules & biomedicineCharacterization of alpha-1 antitrypsin in a Pi∗ZZ patient with emphysema: a case report.
Respiratory medicine case reportsThe Epidemiology of Alpha-1 Antitrypsin Deficiency in Norway.
Clinical epidemiologyLung disease in never-smokers with severe α1-antitrypsin deficiency: the EARCO Registry.
ERJ open researchA synergistic approach to curative liver therapy: multiplex CRISPR-Cas12a and repair drive for alpha-1 antitrypsin deficiency (AATD).
Annals of medicine and surgery (2012)Alpha-1 antitrypsin deficiency: genetics, clinical manifestations, AI prognostics, and advanced imaging in liver disease.
Annals of medicine and surgery (2012)Routine Blood Biomarkers and Lung Disease in Patients with Alpha-1 Antitrypsin Deficiency from the EARCO Registry.
Respiration; international review of thoracic diseasesIs α1-antitrypsin deficiency a cardiovascular risk factor?
ERJ open researchα1-Antitrypsin deficiency and increased risk of atrial fibrillation in two large population-based cohorts.
ERJ open researchApplications of Artificial Intelligence in Alpha-1 Antitrypsin Deficiency: A Systematic Review from a Respiratory Medicine Perspective.
Medicina (Kaunas, Lithuania)Phenotypic Expression of Respiratory Diseases and Tailored Treatment in Patients with Intermediate Alpha-1 Antitrypsin Deficiency: Evidence from a Retrospective Analysis of a Selected Cohort of Patients.
Medicina (Kaunas, Lithuania)Prospective Multicenter Longitudinal Measurement of Liver Stiffness in School-Age Children With Cholestatic Liver Disease.
Gastro hep advancesAlpha-1 antitrypsin Pi*MZ variant increases the risk of liver disease progression in MASLD and MASH.
Annals of hepatologyAlpha-1 antitrypsin deficiency and granulomatosis with polyangiitis: a systematic review and meta-analysis.
European respiratory review : an official journal of the European Respiratory SocietyUpadacitinib in a Refractory Case of Alpha-1 Antitrypsin Deficiency-Related Panniculitis.
CureusPediatric Liver Diseases: Next-Generation Therapies.
Clinics in liver diseasePiComplutense (p.Pro393Thr): A novel SERPINA1 variant in Alpha-1 antitrypsin deficiency identified in two siblings.
Respiratory medicine case reportsLung transplantation for chronic obstructive pulmonary disease patients: an overview.
Current opinion in pulmonary medicineStrawberry Gingivitis as the Initial Manifestation of Granulomatosis with Polyangiitis in A Patient with Alpha-1 Antitrypsin Deficiency.
European journal of case reports in internal medicineDistribution of SERPINA1 gene mutations in patients with spontaneous pneumothorax: A cross-sectional study from a tertiary chest diseases clinic in Turkiye.
MedicineToward precision medicine in COPD: phenotypes, endotypes, biomarkers, and treatable traits.
Respiratory researchPioglitazone reduces hepatic α-1 antitrypsin accumulation through autophagy and AMPK activation in α-1 antitrypsin-deficient mice.
American journal of physiology. Gastrointestinal and liver physiologyPlasma proteome correlations with liver stiffness in pediatric cholestasis implicate epithelial to mesenchymal transition.
Hepatology communicationsPi*M Palermo Mutation in Bronchiectasis due to Alpha-1 Antitrypsin Deficiency: A Rare Genetic Cause.
Medeniyet medical journalPulmonary rehabilitation and quality of life in alpha-1 antitrypsin deficiency: findings from a retrospective cohort study.
ThoraxTwo randomised controlled phase 2 studies of the oral neutrophil elastase inhibitor alvelestat in alpha-1 antitrypsin deficiency.
The European respiratory journalGrowth hormone resistance in children with chronic cholestatic liver disease and reduced skeletal muscle mass.
Journal of pediatric gastroenterology and nutritionNext-Generation Regenerative Therapies for Alpha-1 Antitrypsin Deficiency: Molecular Pathogenesis to Clinical Translation.
International journal of molecular sciencesA new SERPINA1 null allele of the PI*S-plus type: PI*Q0Tegueste.
GeneIncreased Risk of Cholesteatoma in Individuals With Alpha-1 Antitrypsin Deficiency: A Cohort Study.
The LaryngoscopeA compact base editor rescues AATD-associated liver and lung disease in mouse models.
Molecular therapy : the journal of the American Society of Gene TherapyFazirsiran for the treatment of alpha-1 antitrypsin deficiency-associated liver disease findings from the SEQUOIA phase 2 trial.
Annals of medicine and surgery (2012)A cure for alpha-1? Novel therapeutics in alpha-1 antitrypsin deficiency.
The European respiratory journalAlpha-1 Antitrypsin Genotype Distribution in Patients with Emphysema.
International journal of chronic obstructive pulmonary diseaseImpact of Acute Kidney Injury on Mortality Outcomes in Patients Hospitalized for COPD Exacerbation: A National Inpatient Sample Analysis.
Journal of clinical medicineAdministrative coding for alpha-1 antitrypsin deficiency including the pi*ZZ phenotype is accurate in Sweden.
Scandinavian journal of gastroenterologyPrevalence of genetic mutations in Alpha-1 antitrypsin in patients with difficult-to-treat asthma in Colombia.
BMC pulmonary medicineImproving Screening for Alpha-1 Antitrypsin Deficiency in Adults with COPD.
Joint Commission journal on quality and patient safetyGalectin-8 binding to alpha-1 antitrypsin is a physiological mechanism in healthy individuals but exacerbates the symptoms of alpha-1 antitrypsin deficiency.
Archives of biochemistry and biophysicsEpidemiology of Alpha-1 Antitrypsin Deficiency in the Veterans Health Administration.
Annals of the American Thoracic SocietyAlpha-1 antitrypsin in COVID-19 patients: a dual-center screening study in Malaysia.
Annals of Saudi medicineCharacterisation of patients with Alpha-1 antitrypsin deficiency using unsupervised machine learning tools.
Respiratory medicineA Mysterious Trigger for Serum Amyloid A (SAA)-Associated Amyloidosis: Insights From an Autopsy Study.
CureusPerformance of enhanced liver fibrosis test and indirect serum fibrosis markers for exclusion of advanced liver fibrosis in alpha-1 antitrypsin deficiency.
European journal of internal medicineAlpha-1 antitrypsin deficiency with the rare IZ phenotype presenting as cystic lung disease.
BMJ case reportsAssessing inflammatory protein biomarkers in COPD subjects with and without alpha-1 antitrypsin deficiency.
Respiratory researchRethinking FIB-4: The hidden zonal bias in alpha-1 antitrypsin deficiency.
Hepatology communicationsIncreased exacerbations and hospitalizations among PI*MZ compared to PI*MM individuals: an electronic health record analysis.
Respiratory researchAlpha-1 Antitrypsin Deficiency: A Potential Cause of Poor Asthma Control.
The journal of allergy and clinical immunology. In practiceSusceptibility of alpha-1 antitrypsin deficiency variants to polymer-blocking therapy.
JCI insightPhysico-chemically different carbon nanomaterials may elicit similar inflammatory molecular pathways within the lungs of mice.
Toxicology researchClinical characteristics of AATD-related COPD patients vary with age at diagnosis: data from the EARCO international registry.
BMC pulmonary medicineGeneration of an induced pluripotent stem cell line HHUUKDi013-A (ISRM-AATD-iPSC-3) from a pediatric patient of Alpha-I Antitrypsin Deficiency (AATD).
Stem cell researchAlpha-1 antitrypsin modulates neutrophil phenotype and function: implications for inflammatory regulation.
Journal of leukocyte biologyAlpha-1 Antitrypsin Deficiency-Associated panniculitis: A survey of lived experience.
PloS oneAlpha-1 Antitrypsin Deficiency and Bronchial Asthma: Current Challenges.
BiomoleculesSleep apnea among individuals with Alpha-1 antitrypsin deficiency-associated lung disease.
Respiratory medicineSevere alpha-1 antitrypsin deficiency is associated with a higher risk of complications after first decompensation than other aetiologies of cirrhosis.
JHEP reports : innovation in hepatologyMolecular Advances in Cholestatic Liver Diseases.
Advances in anatomic pathologyCan Proteomics Play a Significant Role in the Identification of Biomarkers for Alpha1-Antitrypsin Deficiency?
International journal of molecular sciencesEffect of Alpha-1 Antitrypsin Deficiency on Zinc Homeostasis Gene Regulation and Interaction with Endoplasmic Reticulum Stress Response-Associated Genes.
NutrientsDelivering base editors to the liver and lungs in alpha-1 antitrypsin deficiency.
Nature biotechnologyClinical Utility of Non-Invasive Tests for Liver Fibrosis in People Living With Alpha-1 Antitrypsin Deficiency.
Liver international : official journal of the International Association for the Study of the LiverQuantification of serum elastase inhibitory activity in patients with pulmonary emphysema with and without alpha-1 antitrypsin deficiency.
PloS oneFurther Insights into Emphysema Progression and Lung Function Decline in MZ Alpha-1 Antitrypsin Deficiency.
Annals of the American Thoracic SocietyUnderdiagnosis of Alpha-1 Antitrypsin Deficiency in Cirrhotic Liver Transplant Candidates: Findings From a Multicenter Retrospective Study.
Alimentary pharmacology & therapeuticsInsulin-like Growth Factor-1 Reflects Liver Disease Stage and Improves Prediction of Liver-related Mortality.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological AssociationExome-based genotype-first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype.
Hepatology research : the official journal of the Japan Society of HepatologyAutophagy in cancer and protein conformational disorders.
FEBS lettersTransamniotic Fetal Delivery of Human Alpha-1 Antitrypsin mRNA in a Healthy Rodent Model.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyProgression and Augmentation Therapy in PiSZ and PiZZ Alpha-1 Antitrypsin Deficiency: A Longitudinal Functional and Densitometric Study.
BiomoleculesNeonatal Cholestasis: Exploring Genetic Causes and Clinical Outcomes.
Journal of paediatrics and child healthRationale and Design of the Alpha-1 Biomarkers Consortium Study.
Chronic obstructive pulmonary diseases (Miami, Fla.)Characterization of the Mmalton carrier's cohort within the EARCO (European Alpha- 1 Antitrypsin Research Collaboration) registry.
BMC pulmonary medicineLiver Disease and Prevalence of Liver Transplantation in Adults With ZZ Alpha-1 Antitrypsin Deficiency-A Meta-Analysis.
Liver international communicationsDeep Visual Proteomics maps proteotoxicity in a genetic liver disease.
NatureAlpha-1 antitrypsin deficiency-associated liver disease: From understudied disorder to the poster child of genetic medicine.
Hepatology communicationsPi∗S and Pi∗Z Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4-Independent Enhancer.
Human mutationImproved RNA base editing with guide RNAs mimicking highly edited endogenous ADAR substrates.
Nature biotechnologyTrans-ancestry genome-wide association meta-analysis of gallstone disease.
medRxiv : the preprint server for health sciencesDetection of nocturnal hypoxaemia leading to a diagnosis of COPD and PiMZ alpha-1 antitrypsin deficiency.
BMJ case reportsApplied physiological principles in the management of a lung allograft to thoracic cavity size mismatch in severe emphysema.
JHLT openLung transplant outcomes for recipients with alpha-1 antitrypsin deficiency, by use of alpha-1 antitrypsin augmentation therapy.
JHLT openThe Role of Gene Therapy as an Emerging Treatment Strategy for Alpha-1 Antitrypsin Deficiency-Associated Lung Disease: A Systematic Review.
CureusRefractory Hypokalemia of Pregnancy: A Rare Case of Non-Aldosterone Mediated Hypokalemia.
CureusChaperone-mediated autophagy degrades SERPINA1E342K/α1-antitrypsin Z variant and alleviates cell stress.
AutophagyImpact of administration route and PEGylation on alpha-1 antitrypsin augmentation therapy.
Journal of controlled release : official journal of the Controlled Release SocietyDensitometric and Functional Progression in Patients with Alpha-1 Antitrypsin Deficiency Genotype SZ.
Journal of clinical medicineAlpha-1 antitrypsin deficiency and risk of sleep apnea: a nationwide cohort study.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryCarrier Frequency of Autosomal Recessive Diseases in a Population Attending a Human Fertility Institute in Colombia.
JBRA assisted reproductionPatient experience of alpha-1 antitrypsin deficiency-associated liver disease: a qualitative study.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitationDiagnosis and Monitoring Pathways Using Non-Invasive Tests in Patients With Alpha-1 Antitrypsin Deficiency-Associated Liver Disease: Results From an Expert Delphi Panel.
United European gastroenterology journalLongitudinal Outcomes in Pi*MZ Alpha-1 Antitrypsin-Deficient Individuals with Tobacco Smoking History from the SPIROMICS Cohort.
Annals of the American Thoracic SocietySigns of Hyperinflation and Ventilation Heterogeneity in Individuals With Severe Alpha-1-Antitrypsin Deficiency at the Age of 42.
International journal of chronic obstructive pulmonary diseaseSelection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency.
Nature geneticsBacterial colonisation doubles the risk of exacerbation in alpha-1 antitrypsin deficiency.
Respiratory medicineGenetic Mutations and Post-Lung Transplant Complications: A Case of Hereditary Transthyretin Amyloidosis.
Transplantation proceedingsAlpha-defensins increase NTHi binding but not engulfment by the macrophages enhancing airway inflammation in Alpha-1 antitrypsin deficiency.
Frontiers in immunologyPulmonary artery aneurysm as a rare manifestation of Alpha-1 antitrypsin deficiency.
Respiratory medicine case reportsAlpha-1 antitrypsin deficiency and primary liver cancers.
Biochimica et biophysica acta. Reviews on cancerClinical and Economic Outcomes in Patients With Alpha-1 Antitrypsin Deficiency in a US Medicare Advantage Population.
Journal of health economics and outcomes researchPatient-centered assessment of treatment for alpha-1 antitrypsin deficiency: literature review to identify concepts and measures for people with alpha1-antitrypsin deficiency.
Orphanet journal of rare diseasesGenetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patient.
Frontiers in endocrinologyAdvancing the understanding and treatment of lung pathologies associated with alpha 1 antitrypsin deficiency.
Therapeutic advances in respiratory diseaseAlpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis.
Respiratory careAn Electronic Health Record-Based Strategy to Enhance Detection of Alpha-1 Antitrypsin Deficiency.
Respiratory careMore than a lark? LRRK2 inhibitors to treat alpha-1 antitrypsin deficiency.
Hepatology (Baltimore, Md.)α1-Antitrypsin Gene Variation Associates With Asthma Exacerbations and Related Health Care Utilization.
The journal of allergy and clinical immunology. In practiceProposal and Validation of the Minimum Clinically Important Difference in Emphysema Progression.
Chronic obstructive pulmonary diseases (Miami, Fla.)Panniculitis: a narrative review.
Archives of dermatological researchPlasma Extracellular Vesicle-derived MicroRNA Associated with Human Alpha-1 Antitrypsin Deficiency-mediated Liver Disease.
Journal of clinical and translational hepatologyVascular Pathology in Alpha 1 Antitrypsin Deficient Chronic Obstructive Pulmonary Disease and Emphysema Patients: Case Reports.
The application of clinical geneticsGeneration of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation.
Stem cell researchAlpha-1-Antitrypsin Deficiency Targeted Testing and Augmentation Therapy: A Canadian Thoracic Society Meta-Analysis and Clinical Practice Guideline.
ChestRisk of lung disease with the Pi*SS genotype of alpha-1 antitrypsin: the evidence in context.
Respiratory researchMaking Proteins with Electricity.
Reviews of physiology, biochemistry and pharmacologyIs It Time Alpha-1 Antitrypsin Deficiency Had a Specific Patient Reported Outcome Measure? A Review.
Patient related outcome measuresSpatial covariance reveals isothiocyanate natural products adjust redox stress to restore function in alpha-1-antitrypsin deficiency.
Cell reports. MedicineSelf-administration of augmentation therapy for alpha 1-antitrypsin deficiency.
IJTLD openIdentification of an exosite at the neutrophil elastase/alpha-1-antitrypsin interface.
The FEBS journalEpidemiology and outcomes of alpha-1 antitrypsin deficiency in Sweden 2002-2020: A population-based cohort study of 2286 individuals.
Journal of internal medicineCan Quality of Life Tests Be Useful in Patients Affected by Alpha-1 Antitrypsin Deficiency?
Journal of clinical medicineRegarding: Alpha-1 antitrypsin deficiency associated with increased risks of skin cancer, leukemia, and hepatic cancer: A nationwide cohort study.
Journal of internal medicineAlpha-1 antitripsyn deficiency and augmentation therapy in pregnancy: two case reports.
Frontiers in medicineClinical implications of the SERPINA1 variant, MPalermo, and alpha-1 antitrypsin deficiency in Türkiye.
BMC pulmonary medicineCOVID-19 in Individuals with Severe Alpha 1-Antitrypsin Deficiency.
International journal of chronic obstructive pulmonary diseaseAlpha-1 Antitrypsin Inclusions Sequester GRP78 in a Bile Acid-Inducible Manner.
Liver international : official journal of the International Association for the Study of the LiverAlpha-1 Antitrypsin Deficiency: Navigating Challenges Through Collaborative Innovation.
ChestRecommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency.
Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e TisilogiaThresholds for conjugated hyperbilirubinaemia and hepatobiliary scintigraphy in biliary atresia: A 12-year national follow-up.
Acta paediatrica (Oslo, Norway : 1992)Fazirsiran Unveiled: Methodological Considerations for Optimizing Treatment in Alpha-1 Antitrypsin Deficiency.
GastroenterologyNovel Lobe-based Transformer model (LobTe) to predict emphysema progression in Alpha-1 Antitrypsin Deficiency.
Computers in biology and medicineKF4 Anti-Chymotrypsin-like Elastase 1 Antibody and Purified Alpha-1 Antitrypsin Have Similar but Not Additive Efficacy in Preventing Emphysema in Murine Alpha-1 Antitrypsin Deficiency.
Chronic obstructive pulmonary diseases (Miami, Fla.)Improving the Likelihood of Identifying Alpha-1 Antitrypsin Deficiency Among Patients With COPD: A Novel Predictive Model Using Real-World Data.
Chronic obstructive pulmonary diseases (Miami, Fla.)Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes.
PulmonologyEuropean Alpha-1 Research Collaboration (EARCO) in Portugal: The Future Is Happening.
Acta medica portuguesaGoals of chronic obstructive pulmonary disease management: a focused review for clinicians.
Current opinion in pulmonary medicineQuantitative BAL: a suitable method for the assessment of epithelial lining fluid in alpha-1 antitrypsin deficiency?
ThoraxOptimising bronchoalveolar lavage: lessons from alpha-1 antitrypsin deficiency.
ThoraxA unique case of steroid-resistant, giant cellulitis-like Sweet syndrome mimicking alpha-1-antitrypsin deficiency-associated panniculitis: successful treatment with dapsone.
Clinical and experimental dermatologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Associação brasileira dedicada a Deficiência de alfa-1 antitripsina.
Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Deficiência de alfa-1 antitripsina e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A doença é causada por alterações genéticas no gene SERPINA1, que alteram a produção da proteína alfa-1 antitripsina. Ela é transmitida de forma autossômica recessiva, quando a pessoa herda cópias alteradas do gene de ambos os pais.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 8 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Deficiência de alfa-1 antitripsina. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/deficiencia-de-alfa-1-antitripsina
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Deficiência de alfa-1 antitripsina
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Ensaios clínicos
- fonte: ClinicalTrials.gov
