Effects of VEGF on phenotypic severity in children with hereditary hemorrhagic telangiectasia

Journal of Pediatric Hematology/Oncology

Volumn 31, Issue 8, 2009, Pages 577-582

  Giordano, Paola ^a   Lenato, Gennaro M ^a   Pierucci, Paola ^a   Suppressa, Patrizia ^a   Altomare, Maria ^a   Del Vecchio, Giancarlo ^a   Di Bitonto, Giovanna ^a   De Mattia, Domenico ^a   Guanti, Ginevra ^a   Sabbà, Carlo ^a  

^a UNIVERSITY OF BARI   (Italy)

Author keywords

ALK1; AVMs; ENG; GI bleeding; VEGF

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA1; VASCULOTROPIN; VASCULOTROPIN A; VEGFA PROTEIN, HUMAN;

ADOLESCENT; ARTERIOVENOUS MALFORMATION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME LINKED IMMUNOSORBENT ASSAY; FAMILY HISTORY; FEMALE; HEMATEMESIS; HUMAN; INTESTINAL BLEEDING; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RENDU OSLER WEBER DISEASE; SCHOOL CHILD; BLOOD; COMPARATIVE STUDY; HOSPITALIZATION; INFANT; LUNG DISEASE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; LUNG DISEASES; MALE; PHENOTYPE; SEVERITY OF ILLNESS INDEX; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; TRANSFORMING GROWTH FACTOR BETA1; VASCULAR ENDOTHELIAL GROWTH FACTOR A;

EID: 68849117981     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3181a1c104     Document Type: Article

References (30)

1. Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995;333:918-924.
2. McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-β binding protein of endothelial cells is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994;8:345-351. (Pubitemid 24375599)
3. Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996;13:189-195. (Pubitemid 26000439)
4. Giordano P, Nigro A, Lenato GM, et al. Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician. J Thromb Haemost. 2006;4:1237-1245. (Pubitemid 43756700)
5. Mei-Zahav M, Letarte M, Faughnan ME, et al. Symptomatic children with hereditary haemorrhagic telangiectasia: a pediatric center experience. Arch Pediatr Adolesc Med. 2006;160:596-601. (Pubitemid 43854400)
6. Bayrak-Toydemir P, Mao R, Lewin S, et al. Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians. Genet Med. 2004;6:175-191. (Pubitemid 39005857)
7. Sadick H, Riedel F, Naim R, et al. Patients with hereditary haemorragic teleangiectasia have increased plasma levels of endothelial growth factor and transforming growth factor β1 as well as high ALK 1 tissue expression. Hematological. 2005;80:818-828. (Pubitemid 40897224)
8. Cirulli A, Liso A, D'Ovidio F, et al. Vascular endothelial growth factor serum levels are elevated in patients with hereditary Hemorrhagic teleangiectasia. Acta Hematol. 2003;110:28-32. (Pubitemid 37140401)
9. Letarte M, McDonald ML, Li C, et al. Reduced endothelial secretion and plasma levels of transforming growth factor β1 in patients with hereditary hemorrhagic teleangiectasia type 1. Cardiovasc Res. 2005;68:155-164. (Pubitemid 41253566)
10. Lenato GM, Lastella P, Di Giacomo MC, et al. DHPLC-based mutation analysis of ENG and ALK-1 genes in the HHT Italian population. Hum Mutat. 2006;27:213-214.
11. Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000;91:66-67. (Pubitemid 30127562)
12. Faughnan ME, Ashraf Thabet BA, Mai-Zahav M, et al. Pulmonary arteriovenous malformations in children: outcomes of transcatheter embolotherapy. J Pediatr. 2004;145:826-831. (Pubitemid 39586623)
13. Okamoto Y, Nagai T, Nakajo I, et al. Determination of age-related changes in human vascular endothelial growth factor in the serum and urine of healthy subjects. Clin Lab. 2008;54:173-177.
14. Sabbà C, Pasculli G, Lenato GM, et al. Hereditary Hemorrhagic Telangiectasia: clinical features of ENG and ALK1 mutation carriers. J Thromb Haemost. 2007;5:1148-1157. (Pubitemid 46902115)
15. Letteboer TGW, Mager JJ, Snijder RJ, et al. Genotype-phenotype relationship in Hereditary Hemorrhagic Telangiectasia. J Med Genet. 2006;43:371-377.
16. Scharpfenecker M, van Dinther M, Liu Z, et al. BMP-9 signals via ALK1 and inhibits bFGF-induced endothelial cell proliferation and VEGF-stimulated angiogenesis. J Cell Sci. 2008;120:964-972. (Pubitemid 46638511)
17. Oh SP, Seki T, Goss KA, et al. Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signalling in the regulation of angiogenesis. Proc Natl Acad Sci USA. 2000;14:2626-2631. (Pubitemid 30159221)
18. Hao Q, Su H, Marchuk DA, et al. Increased tissue perfusion promotes capillary dysplasia in the ALK1-deficient mouse brain following VEGF stimulation. Am J Physiol Heart Circ Physiol. 2008;295:H2250-H2256. doi:10.1152/ajpheart.00083.2008.
19. Xu B, Wu YQ, Huey M, et al. Vascular endothelial growth factor induces abnormal microvasculature in the endoglin heterozygous mouse brain. J Cereb Blood Flow Metab. 2004;24:237-244. (Pubitemid 38199117)
20. David L, Mallet C, Mazerbourg S, et al. Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells. Blood. 2007;109:1953-1961. (Pubitemid 46348192)
21. Park SO, Lee YJ, Seki T, et al. ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2. Blood. 2008;111:633-642.
22. Longacre AV, Gross CP, Gallitelli M, et al. Diagnosis and management of gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol. 2003;98:59-65. (Pubitemid 36135170)
23. Ingrosso M, Sabba C, Pisani A, et al. Evidence of small-bowel involvement in hereditary hemorrhagic telangiectasia: a capsule-endoscopic study. Endoscopy. 2004;36:1074-1079. (Pubitemid 39642467)
24. Mestre JR, Andres JM. Hereditary hemorrhagic teleangiectasia causing hematemesis in an infant. J Pediatr. 1982;101:577-578.
25. Cynamon HA, Milov DE, Andres JM. Multiple telangiectases of the colon in childhood. J Pediatr. 1988;101:577-578.
26. Chen L, Lang S, Hu T, et al. Hereditary hemorrhagic telangiectasia: a rare cause of long-lasting abdominal distension in an 8-year-old boy. Chin Med J. 2002;115:620-626. (Pubitemid 34538116)
27. Argyriou L, Wirbelauer J, Dev A, et al. A newborn with hereditary hemorrhagic telangiectasia and an unusual severe phenotype. Swiss Med Wkly. 2008;138:28-30.
28. Folz BJ, Zoll B, Alfke H, et al. Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents. Eur Arch Otorhinolaringol. 2006;263:53-61. (Pubitemid 43004712)
29. Chamberlain SM, Patel J, Carter Balart J, et al. Evaluation of patients with hereditary hemorrhagic telangiectasia with videocapsule endoscopy: a single-center prospective study. Endoscopy. 2007;39:1-5. (Pubitemid 46971577)
30. Braverman IM, Keh A, Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol. 1990;95:422-427. (Pubitemid 20331987)