背景:Klippel-Trenaunay综合征(KTS)是一种罕见的先天性静脉畸形,已发现它是由磷脂酰肌醇4,5-二磷酸3-激酶催化亚基α(PIK3CA)基因突变引起的.目前KTS被定义为皮肤葡萄酒色斑的三合会,下肢静脉曲张和畸形,骨骼和软组织肥大,涉及泌尿系统高达6%至30%。当涉及泌尿系统时,KTS通常表现为无痛的大量肉眼血尿。
方法:本文描述了一名因无痛性大量肉眼血尿住院的妇女。体格检查显示右下肢静脉曲张明显肥大,葡萄酒在皮肤上的污渍,和右侧会阴血管瘤样改变伴有肿胀。患者因反复血尿和感染入院4次。
方法:通过体检,CT尿路造影,输尿管镜检查和膀胱镜检查,病人被诊断出患有Klippel-Trenaunay综合征,涉及泌尿系统。
方法:患者经多次留置D-J管及抗炎治疗后血尿得到改善。
结果:血尿的最终症状明显改善,到目前为止,随访还没有复发。
结论:本病例提示KTS伴无痛性肉眼血尿的可能性。大多数患者可以通过保守治疗得到改善。膀胱镜下激光治疗是出血控制不良的首选治疗方法。当危及生命时,应考虑膀胱切除术和肾切除术。
BACKGROUND: Klippel-Trenaunay syndrome (KTS) is a rare congenital venous malformation, it had been found to be caused by mutations of the phosphatidylinositol 4, 5-diphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. Currently KTS is defined as a triad of skin wine pigmented spots, varicose veins and malformations of the lower extremities, and hypertrophy of bone and soft tissue, involving urinary system up to 6% to 30%. When the urinary system is involved, KTS is often presented as painless massive gross hematuria.
METHODS: This article describes a woman who was hospitalized with painless massive gross hematuria. Physical examination revealed significant hypertrophy of the right lower limb with varicose veins, port-wine stains in the skin, and right perineal hemangiomatous changes with swelling. The patient was admitted to hospital 4 times for repeated hematuria and infection.
METHODS: By physical examination, CT urography, ureteroscopy and cystoscopy, the patient was diagnosed to have Klippel-Trenaunay syndrome, involving the urinary system.
METHODS: The patient hematuria improved after multiple indwelling D-J tubes and anti-inflammatory treatment.
RESULTS: The final symptoms of hematuria improved significantly, follow-up so far has not recurred.
CONCLUSIONS: This case presents the possibility of painless gross hematuria with KTS. Most of patients can be improved by conservative treatment. Cystoscopic laser therapy is the preferred treatment for poor bleeding control. Cystectomy and nephrectomy should be considered when life-threatening.