原发性先天性淋巴水肿一家系随访分析

目的探讨我国原发性先天性淋巴水肿（primary congenital lymphoedema,PCL）,也称为Milroy病的临床特征。方法通过诊断收集国内PCL一家系,并对受累者全面检查,建立了完善的家系谱和该病详细的临床资料。结合其临床资料和国内外文献对该病进行分析总结。结果该家系4代48位成员,受累者为11例,男性3例,女性8例,患者年龄为3-85岁;出生即发病的为10例,呈缓慢性持续性病态,病灶分布如下：双下肢1例、双下肢和右上肢1例、左上肢1例、右下肢3例、左下肢3例、双足背2例,病变范围超过膝关节2例,伴右手皮肤癌1例,伴双足大拇指甲上跷1例;早期自愈2例。结论遗传学分析表明,国内PCL家系表现为常染色体显性遗传,女性发病率高,受累部位分布具有多样性和局限性特点,多为单侧下肢受累,偶见上肢水肿,并可发生皮肤癌变;临床上提高对该病的认识,并积极进行早期治疗干预,有助于改善预后。

Follow-up of one family with primary congenital lymphoedema

Objective To analyze the clinical characteristics of Chinese primary congenital lymphoedema(PCL),also known as Milroy disease.MethodsThrough collection and diagnosis of a Chinese PCL family,the comprehensive pedigree and detailed clinical data were established.Its clinical data and relational references were analyzed.Results11 cases in 4 generation of the 48 family members were affected in all,including 3 male and 8 female,The patients' ages were from 3 to 85 years,10 individuals onset from birth,and remained mildly affected throughout life.The nidus were as follows:1 case is on the bilateral lower limbs,1 case is on the bilateral lower limb and the right upper limb,1 case is on the left upper limb,3 cases are on the right lower limb,3 are cases on the left lower limb,2 cases are bilateral feet back,2 cases are over the knee joint,1 case is simultaneous with right hand skin cancer,1 case is simultaneous with upslanting toenails of big toes of bilateral feet;2 cases are early healing.ConclusionGenetic analysis shows that the inheritance mode in this Chinese PCL family is autosomal dominant,which women were high incidence,diversity and the limitations of the nidus sites and more on the unilateral lower limbs and less on the upper limbs with skin cancer;Further understanding of this disease and early clinical treatment would be helpful to improve the prognosis.