The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome
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DOI：
10.1038/ejhg.2015.175
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发表时间：
2016-05-01
影响因子：
5.2
通讯作者：
Mansour, Sahar
中科院分区：
文献类型：
--
作者：
Joyce, Sarah;Gordon, Kristiana;Mansour, Sahar
包括努南综合征（NS）和颜面皮肤综合征（CFC）的RASopathies是具有遗传异质性的常染色体显性疾病，其与Ras/促分裂原活化蛋白激酶（MAPK; RAS-MAP激酶）途径中的基因的种系突变相关。这些疾病重叠，其特征是面部畸形，身材矮小和先天性心脏病。特别是NS和CFC，已知与淋巴问题有关，但迄今为止尚未得到很好的表征。我们描述了11例努南或CFC综合征的显着，持续和进行性淋巴管发育不良。努南综合征和CFC综合征的淋巴系统疾病很少见，但具有特征性模式，包括双侧下肢淋巴水肿、生殖器肿胀伴乳糜反流和频繁的全身受累，包括肠淋巴管扩张和乳糜胸，可能是进行性的。静脉双功扫描显示与功能不全的静脉相关的淋巴回流和/或改道。
The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS-MAP kinase) pathway. The conditions overlap and are characterised by facial dysmorphism, short stature and congenital heart disease. NS and CFC, in particular, are known to be associated with lymphatic problems, but this has not been well characterised to date. We describe 11 patients with Noonan or CFC syndrome with significant, persistent and progressive lymphatic dysplasia. The lymphatic disorders in Noonan and CFC syndrome are rare, but have a characteristic pattern with bilateral lower limb lymphoedema, genital swelling with chylous reflux and frequent systemic involvement, including intestinal lymphangiectasia and chylothoraces, which may be progressive. Lymphoscintigraphy demonstrates reflux and/or rerouting of lymphatic drainage associated with incompetent veins on the venous duplex scans.