Clinical variability in a Japanese hereditary lymphedema type I family with anFLT4 mutation
Clinical variability in a Japanese hereditary lymphedema type I family with anFLT4 mutation
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DOI：
10.1111/j.1741-4520.2005.00064.x
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发表时间：
2005-06-01
影响因子：
1.3
通讯作者：
Wakamatsu, Nobuaki
中科院分区：
文献类型：
--
作者：
Mizuno, Seiji;Yamada, Yasukazu;Wakamatsu, Nobuaki
1 型遗传性淋巴水肿（米尔罗伊病）是一种罕见的常染色体显性遗传疾病，由编码血管内皮生长因子受体 3 的 FLT4 突变引起。患者出现腿部和足部水肿，导致从新生儿期起下肢慢性肿胀。在这里，我们报告了一个日本家庭，该家庭有 5 代 10 名遗传性淋巴水肿 I 型患者。我们在 3 代的 3 名受影响个体的 FLT4 一个等位基因中发现了先前报道的 G857R 错义突变，其母亲仅出现左脚半淋巴水肿。因此，由 FLT4 突变引起的 I 型遗传性淋巴水肿的临床特征是异质的，即使在足部半身淋巴水肿患者中，考虑 FLT4 突变也是适当的。
Hereditary lymphedema type 1 (Milroy disease) is a rare autosomal dominant disease resulting from mutations of FLT4 encoding the vascular endothelial growth factor receptor-3. Patients develop edema of the legs and feet, resulting in chronic swelling of the lower extremities from the neonatal period. Here we report a Japanese family with 10 affected members of five generations of hereditary lymphedema type I. We identified a previously reported missense mutation of G857R in one allele of FLT4 from three affected individuals of three generations, the mother of whom presented only hemi-lymphedema of the left foot. Thus, the clinical features of hereditary lymphedema type I caused by a FLT4 mutation are heterogeneous and it would be appropriate to consider FLT4 mutations even in a patient with hemi-lymphedema of the foot.