The effect of alpha-1 antitrypsin (AAT) augmentation therapy on the liver phenotype in individuals with homozygous PiZ AAT mutation (genotype PiZZ)

被引：0

作者：

Fromme, M. ^{[1
]}

Hamesch, K. ^{[1
]}

Schneider, C., V ^{[1
]}

Mandorfer, M. ^{[2
]}

Holtz-Thorhauge, K. ^{[3
]}

Pereira, V ^{[4
]}

Pons, M. ^{[5
]}

Reichert, M. C. ^{[6
]}

Amzou, S. ^{[1
]}

Bals, R. ^{[7
]}

Koczulla, R. ^{[8
]}

Miravitlles, M. ^{[9
]}

Janciauskiene, S. ^{[10
]}

Genesca, J. ^{[5
]}

Benini, F. ^{[11
,12
]}

Chorostowska-Wynimko, J. ^{[13
]}

Griffiths, W. J. ^{[14
]}

Aigner, E. ^{[15
]}

Teumer, A. ^{[16
,17
]}

Trauner, M. ^{[2
]}

Krag, A. ^{[3
]}

Trautwein, C. ^{[1
]}

Strnad, P. ^{[1
]}

机构：

[1] Univ Hosp RWTH Aachen, Gastroenterol Metab Dis & Intens Care, Med Clin 3, Aachen, Germany

[2] Med Univ Vienna, Div Gastroenterol & Hepatol, Vienna, Austria

[3] Odense Univ Hosp, Dept Gastroenterol & Hepatol, Odense, Denmark

[4] Ctr Hosp Funchal, Dept Gastroenterol, Funchal, Portugal

[5] Vall dHebron Univ Hosp, Vall dHebron Res Inst VHIR, Liver Unit, Barcelona, Spain

[6] Saarland Univ, Med Ctr, Dept Internal Med 2, Homburg, Germany

[7] Saarland Univ, Med Ctr, Dept Med 5, Homburg, Germany

[8] Marburg Univ Hosp, German Ctr Lung Res DZL, Clin Pneumol, Marburg, Germany

[9] Vall dHebron Hosp, Clin Pneumol, Barcelona, Spain

[10] Hannover Med Sch, German Ctr Lung Res DZL, Clin Pneumol, Hannover, Germany

[11] Spedali Civil Brescia, Dept Med, Gastroenterol Unit, Brescia, Italy

[12] Univ Brescia, Brescia, Italy

[13] Natl Inst TB & Lung Dis, Dept Genet & Clin Immunol, Warsaw, Poland

[14] Cambridge Univ Hosp NHS Fdn Trust, Dept Hepatol, Cambridge, England

[15] Paracelsus Med Univ, Dept Med 1, Salzburg, Austria

[16] Univ Med Greifswald, Inst Community Med, Greifswald, Germany

[17] DZHK German Ctr Cardiovasc Res, Partner Site Greifswald, Greifswald, Germany

来源：

EUROPEAN RESPIRATORY JOURNAL | 2022年 / 60卷

关键词：

Genetics; Treatments; COPD;

D O I：

10.1183/13993003.congress-2022.3772

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

3772

引用

页数：2

共 50 条

[1] Alpha-1 antitrypsin (AAT) augmentation therapy and liver phenotype in individuals with homozygous Pi*Z AAT mutation (Pi*ZZ genotype)
Fromme, Malin
Hamesch, Karim
Schneider, Carolin Victoria
Mandorfer, Mattias
Thorhauge, Katrine
Pereira, Vitor
Pons, Monica
Reichert, Matthias
Amzou, Samira
Bals, Robert
Koczulla, Andreas Rembert
Miravitlles, Marc
Janciauskiene, Sabina
Genesca, Joan
Benini, Federica
Chorostowska-Wynimko, Joanna
Griffiths, Bill
Aigner, Elmar
Teumer, Alexander
Trauner, Michael
Krag, Aleksander
Trautwein, Christian
Strnad, Pavel
[J]. JOURNAL OF HEPATOLOGY, 2022, 77 : S515 - S516
[2] Alpha-1 Antitrypsin Augmentation and the Liver Phenotype of Adults With Alpha-1 Antitrypsin Deficiency (Genotype Pi*ZZ)
Fromme, Malin
Hamesch, Karim
Schneider, Carolin, V
Mandorfer, Mattias
Pons, Monica
Thorhauge, Katrine H.
Pereira, Vitor
Sperl, Jan
Frankova, Sona
Reichert, Matthias C.
Benini, Federica
Burbaum, Barbara
Kleinjans, Moritz
Amzou, Samira
Rademacher, Laura
Bewersdorf, Lisa
Verbeek, Jef
Nevens, Frederik
Genesca, Joan
Miravitlles, Marc
Nunez, Alexa
Schaefer, Benedikt
Zoller, Heinz
Janciauskiene, Sabina
Waern, Johan
Oliveira, Antonio
Maia, Luis
Simoes, Carolina
Mahadeva, Ravi
Fraughen, Daniel D.
Trauner, Michael
Krag, Aleksander
Lammert, Frank
Bals, Robert
Gaisa, Nadine T.
Aigner, Elmar
Griffiths, William J.
Denk, Helmut
Teumer, Alexander
Mcelvaney, Noel G.
Turner, Alice M.
Trautwein, Christian
Strnad, Pavel
[J]. CLINICAL GASTROENTEROLOGY AND HEPATOLOGY, 2024, 22 (02) : 283 - 294.e5
[3] Alpha-1 antitrypsin (AAT) augmentation therapy in individuals with the PI*MZ genotype: a pro/con debate on a working hypothesis
Barjaktarevic, Igor
Miravitlles, Marc
[J]. BMC PULMONARY MEDICINE, 2021, 21 (01)
[4] Alpha-1 antitrypsin (AAT) augmentation therapy in individuals with the PI*MZ genotype: a pro/con debate on a working hypothesis
Igor Barjaktarevic
Marc Miravitlles
[J]. BMC Pulmonary Medicine, 21
[5] Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi*Z Variant of AAT (Pi*MZ vs Pi*ZZ genotype) and Noncarriers
Schneider, Carolin, V
Hamesch, Karim
Gross, Annika
Mandorfer, Mattias
Moeller, Linda S.
Pereira, Vitor
Pons, Monica
Kuca, Pawel
Reichert, Matthias C.
Benini, Federica
Burbaum, Barbara
Voss, Jessica
Gutberlet, Marla
Woditsch, Vivien
Lindhauer, Cecilia
Fromme, Malin
Kumpers, Julia
Bewersdorf, Lisa
Schaefer, Benedikt
Eslam, Mohammed
Bals, Robert
Janciauskiene, Sabina
Carvao, Joana
Neureiter, Daniel
Zhou, Biaohuan
Woeran, Katharina
Bantel, Heike
Geier, Andreas
Dirrichs, Timm
Stickel, Felix
Teumer, Alexander
Verbeek, Jef
Nevens, Frederik
Govaere, Olivier
Krawczyk, Marcin
Roskams, Tania
Haybaeck, Johannes
Lurje, Georg
Chorostowska-Wynimko, Joanna
Genesca, Joan
Reiberger, Thomas
Lammert, Frank
Krag, Aleksander
George, Jacob
Anstee, Quentin M.
Trauner, Michael
Datz, Christian
Gaisa, Nadine T.
Denk, Helmut
Trautwein, Christian
[J]. GASTROENTEROLOGY, 2020, 159 (02) : 534 - +
[6] Assessment of liver phenotype in adults with severe alpha-1 antitrypsin deficiency (Pi*ZZ genotype)
Kuempers, Julia
Fromme, Malin
Schneider, Carolin V.
Trautwein, Christian
Denk, Helmut
Hamesch, Karim
Strnad, Pavel
[J]. JOURNAL OF HEPATOLOGY, 2019, 71 (06) : 1272 - 1274
[7] Alpha-1 Antitrypsin Z Variant (AAT PI*Z) as a Risk Factor for Intrahepatic Cholestasis of Pregnancy
Kosinski, Przemyslaw
Kedzia, Malgorzata
Mostowska, Adrianna
Gutaj, Pawel
Lipa, Michal
Wender-Ozegowska, Ewa
Rozy, Adriana
Chorostowska-Wynimko, Joanna
Wielgos, Miroslaw
Jezela-Stanek, Aleksandra
[J]. FRONTIERS IN GENETICS, 2021, 12
[8] ALPHA-1-ANTITRYPSIN (AAT) DEPOSITS IN GALLBLADDER ADENOCARCINOMA AND LIVER IN PARTIAL AAT DEFICIENCY (PI-SZ-PHENOTYPE)
CALLEA, F
STUYCK, JM
MASSI, G
HUYGHE, JD
VANGIJSEGEM, DF
JADOUL, DH
DESMET, VJ
[J]. AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 1982, 78 (06) : 878 - 883
[9] Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update
Blanco, Ignacio
Bueno, Patricia
Diego, Isidro
Perez-Holanda, Sergio
Casas-Maldonado, Francisco
Esquinas, Cristina
Miravitlles, Marc
[J]. INTERNATIONAL JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE, 2017, 12 : 561 - 569
[10] Reply to: "Assessment of liver phenotype in adults with severe alpha-1 antitrypsin deficiency (Pi*ZZ genotype)''
Marek, George W., III
Brantly, Mark
Clark, Virginia C.
[J]. JOURNAL OF HEPATOLOGY, 2019, 71 (06) : 1274 - 1274

← 1 2 3 4 5 →

The effect of alpha-1 antitrypsin (AAT) augmentation therapy on the liver phenotype in individuals with homozygous Pi*Z AAT mutation (genotype Pi*ZZ)

The effect of alpha-1 antitrypsin (AAT) augmentation therapy on the liver phenotype in individuals with homozygous PiZ AAT mutation (genotype PiZZ)