少毛症-淋巴水肿-毛细血管扩张-肾缺陷综合征

Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

少毛症-淋巴水肿-毛细血管扩张症(hypotrichosis-lymphedema-telangiectasia syndrome,HLTS)是一种由SOX18基因变异引起的罕见的临床综合征性淋巴水肿疾病,为常染色体显性或隐性遗传性疾病,好发于新生儿期及婴儿期,其特征是早发性少毛症、淋巴水肿及毛细血管扩张,而少毛症-淋巴水肿-毛细血管扩张-肾缺陷综合征(HLT-renal defect syndrome,HLTRS)是伴有肾损害的HLTS,除有HLTS的临床特征外,还存在补体正常的膜增生性肾小球肾炎。虽HLTRS的患病率不足百万分之一,我国尚未有该病的相关报道,但考虑我国人口基数大,可能存在对该病认识不足情况,现对HLTRS的发病机制、诊断及治疗进行总结,以期提高对该病的认识。

Hypotrichosis-lymphedema-telangiectasia syndrome(HLTS)is a rare clinical syndrome of lymphedema caused by variation of SOX18 gene.It is an autosomal dominant or recessive hereditary disease.It usually occurs in neonates and infants,and is characterized by early oligotrichosis,lymphedema,and telangiectasia.Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome(HLTRS)is HLTS with renal damage.In addition to the clinical characteristics of HLTS,HLTRS also has membranous proliferative glomerulonephritis with normal complement.The prevalence of HLTRS is less than one in a million,and there is no related report of HLTRS in China,there may be insufficient understanding of this disease considering the large population base in China.This paper summarizes the pathogenesis,diagnosis and treatment of HLTRS in order to improve the understanding of this disease.