诊疗流程(图
6-1) 参考文献 [1] STRNAD P, MCELVANEY NG, LOMAS DA.
Alpha1-antitrypsin deficiency. N Engl J Med, 2020,382(15):1443-1455. [2] FRANCIOSI AN, CARROLL TP, MCELVANEY NG. Pitfalls
and caveats in α1-antitrypsin de ficiencyte sting: a guide for
clinicians. Lancet Respir Med, 2019,7(12):1059-1067. [3] FROMME M, SCHNEIDER CV, TRAUTWEIN C, e t a l.
Alpha -1 antitrypsin de ficiency: a re -surfacing adult liver disorder. J Hepatol,
2022,76(4):946-958. [4] RUIZ M, LACAILLE F, SCHRADER C, etal. Pediatric
and adult liver disease in alpha -1 antitrypsin deficiency. Semin Liver Dis,
2023,43(3):258-266. [5] HUANG DQ, CHAN KE, TAN C, e t a l. Me ta -analysis:
prevalence of significant or advanced fibrosis in adults with alpha-1-antitrypsin
deficiency. Aliment Pharmacol Ther, 2023,58(2):152-158. [6] MIRAVITLLES M, HEREPATH M, PRIYENDU A, etal. Disease
burden associated with alpha -1 antitrypsin deficiency: systematic and
structured literature reviews. Eur Respir Rev, 2022,31(163):210262. [7] SEYAMA K, HIRAI T, MISHIMA M, etal. Anationwide
epidemiological survey of alpha1-antitrypsin deficiency in Japan. Respir Investig,
2016, 54(3): 201-206. [8] DE SERRES FJ, BLANCO I. Prevalence of a
lpha1-antitrypsin deficiency allele s PI*S and PI*Z worldwide and effective screening
for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ:
a comprehensive review. The r Adv Respir Dis, 2012,6(5):277-95. [9] MOSTAFAVI B, PIITULAINEN E, TANASH HA. Survivalin
the Swedish cohort with alpha -1-antitrypsin deficiency, up to the age of 43-45
ye ars. Int J Chron Obstruct Pulmon Dis,2019,14:525-530. [10] BALDERACCHI AM, BARZON V, OTTAVIANI S, e t a l.
Comparison of different algorithms in laboratory diagnosis of a
lpha1-antitrypsin deficiency. Clin Chem Lab Med, 2021,59(8):1384-1391. [11] MCELVANEY OF, FRAUGHEN DD, MCELVANEY OJ, e t a l.
Alpha -1 antitrypsin deficiency: current the rapy and emerging targets. Expert
Rev Respir Med, 2023,17(3):191-202. [12] PIRES FERREIRA D, GRUNTMAN AM, FLOTTE TR. Gene
the rapy for a lpha -1antitrypsin deficiency:
an update . Expert Opin Biol The r, 2023,23(3):283-291. [13] STRNAD P, MANDORFER M, CHOUDHURY G, etal. Fa
zirsiran for live r disease associated with alpha 1-antitrypsin deficiency. N
Engl J Med, 2022,387(6):514-524. [14] ATTAWAY A, MAJUMDAR U, SANDHAUS RA, etal. An analysis
of the degree of concordance among international guide line sregarding alpha -1
antitrypsin deficiency. Int J Chron Obstruct Pulmon Dis, 2019,14:2089-2101. [15] SOOD V, LEE EJ, RAGHU V, e t a l. Live r
transplantation for alpha 1 antitrypsin deficiency (A1ATD) using a he terozygous
donor: outcome sand review of the lite rature . Pedia tr Transplant,
2023,27(4):e14488. [16] RONDANELLI M, GASPARRI C, RAZZA C, eta . Practical
dietary advices for subjects with alpha -1 antitrypsin deficiency. Biomed Pharma
cother, 2023,163:114753. [17] DUMMER J, DOBLER CC, HOLMES M, e t a l. Diagnosis
and treatment of lung disease a ssociated with alpha one -antitrypsin deficiency:
a position statement from the Thora cicSociety of Australia and New Ze a land.
Re spirology, 2020,25(3):321-335. [18] SEYAMA K, SUZUKI M, TASAKAS, etal. Long-terms afety
of Prolastin(R)-C, an alpha1-proteinase inhibitor, in Japanese patients with alpha1-antitrypsin deficiency. Respir Investig, 2022,60(6):831-839. [19] FRANCIOSI AN, RALPH J, O'FARRELL NJ, e t a l.
Alpha -1 antitrypsin deficiency-associated panniculitis. J Am Acad Dermatol,
2022,87(4):825-832. [20] 叶立红,邵晨,张红雷,等.慢性乙型肝炎合并α1-抗胰蛋白酶缺乏症一例.中华病理学杂志, 2015,44(5):348-349. [21] LOOMBA R, CLARK G, TECKMAN J, etal. Review article
: new developments in biomarkers and clinical drug development in alpha -1
antitrypsin deficiency-related liver disease
[J]. Aliment Pharmacol Ther, 2024,59(10):1183-1195. [22] CHAPMAN KR, BURDON JG, PIITULAINEN E, e t a l.
Intravenous augmentation treatment and lung density in s eve re a lpha1
antitrypsin de ficiency (RAPID): a randomised, double -blind, placebo-controlled
trial. Lance t, 2015, 386(9991): 360-368. |