doi:10.11852/zgetbjzz2022-0241

Abstract

CLC Number:

R722.1

张娟娟, 马金旗, 曾军安, 何阿玲. 新生儿遗传性出血性毛细血管扩张症1例并文献回顾[J]. 中国儿童保健杂志, 2023, 31(2): 225-228.

[1] Locke T, Gollamudi J, Chen P. Hereditary hemorrhagic telangiectasia (HHT)[M]. StatPearls. Treasure Island (FL); StatPearls Publishing Copyright  2022, StatPearls Publishing LLC. 2022.
[2] Lam S, Guthrie KS, Latif MA, et al. Genetic counseling and testing for hereditary hemorrhagic telangiectasia[J]. Clin Genet, 2022, 101(3): 275-284.
[3] 熊山, 陈博, 程建敏等. 新生儿遗传性出血性毛细血管扩张症影像表现一例[J]. 中华放射学杂志, 2015, 49(8): 628-628.
Xiong S, Chen B, Cheng JM, et al. Imaging manifestations of hereditary hemorrhagic telangiectasia in a newborn[J].Chin J Radiol,2015, 49(8): 628-628.
[4] Merves M, Parsons K, Alazraki A, et al. Significant hematochezia and intracranial bleeding in neonatal hereditary hemorrhagic telangiectasia[J]. AJP Rep, 2019, 9(1): e10-e14.
[5] Delaney HM, Rooks VJ, Wolfe SQ, et al. Term neonate with intracranial hemorrhage and hereditary hemorrhagic telangiectasia: A case report and review of the literature[J]. J Perinatol, 2012, 32(8): 642-644.
[6] Morgan T, McDonald J, Anderson C, et al. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)[J]. Pediatrics, 2002, 109(1): E12.
[7] Bourdeau A, Cymerman U, Paquet ME, et al. Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1[J]. Am J Pathol, 2000, 156(3): 911-923.
[8] Boynton RC, Morgan BC. Cerebral arteriovenous fistula with possible hereditary telangiectasia[J]. Am J Dis Child, 1973, 125(1): 99-101.
[9] Al-Saleh S, John PR, Letarte M, et al. Symptomatic liver involvement in neonatal hereditary hemorrhagic telangiectasia[J]. Pediatrics, 2011, 127(6): e1615-1620.
[10] Argyriou L, Wirbelauer J, Dev A, et al. A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype[J]. Swiss Med Wkly, 2008, 138(29-30): 432-436.
[11] Gludovacz K, Vlasselaer J, Mesens T, et al. Early neonatal complications from pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: Case report and review of the literature[J]. J Matern Fetal Neonatal Med, 2012, 25(8): 1494-1498.
[12] Borsellino A, Giorlandino C, Malena S, et al. Early neurologic complications of pulmonary arteriovenous malformation in a newborn: An indication for surgical resection[J]. J Pediatr Surg, 2006, 41(2): 453-455.
[13] Ruf B, Eicken A, Schreiber C, et al. Clinical improvement after banding of a pulmonary branch artery in a symptomatic patient with Osler-Rendu-Weber syndrome[J]. Pediatr Cardiol, 2010, 31(1): 136-137.
[14] Bennhagen RG, Holje G, Laurin S, et al. Coil embolization of a neonatal pulmonary arteriovenous malformation[J]. Pediatr Cardiol, 2002, 23(2): 235-238.
[15] Farhan A, Yuan F, Partan E, et al. Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5[J]. Am J Med Genet A, 2022, 188(1): 199-209.
[16] Liu J, Yang J, Tang X, et al. Homozygous GDF2-related hereditary hemorrhagic telangiectasia in a chinese family[J]. Pediatrics, 2020, 146(2): e20191970.
[17] Wooderchak-Donahue WL, McDonald J, O′Fallon B, et al. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia[J]. Am J Hum Genet, 2013, 93(3): 530-537.
[18] Hernandez F, Huether R, Carter L, et al. Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia[J]. Hum Genome Var, 2015, 2(1): 1-6.
[19] Balachandar S, Graves TJ, Shimonty A, et al. Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations[J]. Am J Med Genet A, 2022, 188(3): 959-964.
[20] Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)[J]. Am J Med Genet, 2000, 91(1): 66-67.
[21] 秦丽丽, 高笑宇, 孙德俊. 遗传性出血性毛细血管扩张症研究进展[J]. 中华实用诊断与治疗杂志, 2021, 35(6): 642-644.
Qin LL, Gao XY, Sun DJ. Hereditary hemorrhagic telangiectasia[J]. J Chin Pract Diagn Ther,2021, 35(6): 642-644.
[22] Hata A, Lagna G. Deregulation of Drosha in the pathogenesis of hereditary hemorrhagic telangiectasia[J]. Curr Opin Hematol, 2019, 26(3): 161-169.
[23] Wang K, Tao G, Sylvester KG. Recent advances in prevention and therapies for clinical or experimental necrotizing enterocolitis[J]. Digest Dis Sci, 2019, 64(11): 3078-3085.
[24] Medina-Jover F, Riera-Mestre A, Viñals F. Rethinking growth factors:The case of BMP9 during vessel maturation[J]. Vasc Biol, 2022, 4(1): R1-r14.
[25] Gallego N, Cruz-Utrilla A, Guillén I, et al. Expanding the evidence of a semi-Dominant Inheritance in GDF2 associated with pulmonary arterial hypertension[J]. Cells, 2021, 10(11): 3178.
[26] Hodgson J, Ruiz-Llorente L, McDonald J, et al. Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children[J]. Mol Genet Genomic Med, 2021, 9(12): e1685.
[27] Hodgson J, Swietlik EM, Salmon RM, et al. Characterization of GDF2 mutations and levels of BMP9 and BMP10 in pulmonary arterial hypertension[J]. Am J Respir Crit Care Med, 2020, 201(5): 575-585.

新生儿遗传性出血性毛细血管扩张症1例并文献回顾

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