检查 原发性淋巴水肿患者可以做基因检测。
大多数淋巴水肿的病例是散发性的;但大约有10%-15%的患者具有家族性或综合征性淋巴水肿。[1]Schook CC, Mulliken JB, Fishman SJ, et al. Primary lymphedema: clinical features and management in 138 pediatric patients. Plast Reconstr Surg. 2011;127:2419-2431.http://www.ncbi.nlm.nih.gov/pubmed/21617474?tool=bestpractice.com
在某些淋巴水肿相关综合征中已鉴定有致病突变:Milroy病(VEGFR3)、淋巴水肿—双行睫综合征(FOXC2)、稀毛症—淋巴水肿—毛细血管扩张(SOX18)和Hennekam综合征(CCBE1)。[14]Irrthum A, Karkkainen MJ, Devriendt K, et al. Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet. 2000;67:295-301.http://www.cell.com/ajhg/fulltext/S0002-9297(07)62641-Xhttp://www.ncbi.nlm.nih.gov/pubmed/10856194?tool=bestpractice.com[15]Irrthum A, Devriendt K, Chitayat D, et al. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet. 2003;72:1470-1478.http://www.cell.com/ajhg/fulltext/S0002-9297(07)60446-7http://www.ncbi.nlm.nih.gov/pubmed/12740761?tool=bestpractice.com[16]Finegold DN, Kimak MA, Lawrence EC, et al. Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Hum Mol Genet. 2001;10:1185-1189.http://hmg.oxfordjournals.org/content/10/11/1185.longhttp://www.ncbi.nlm.nih.gov/pubmed/11371511?tool=bestpractice.com[17]Boon LM, Ballieux F, Vikkula M. Pathogenesis of vascular anomalies. Clin Plast Surg. 2011;38:7-19.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3031181/http://www.ncbi.nlm.nih.gov/pubmed/21095468?tool=bestpractice.com[18]Alders M, Hogan BM, Gjini E, et al. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet. 2009;41:1272-1274.http://www.ncbi.nlm.nih.gov/pubmed/19935664?tool=bestpractice.com