Kundzina Linda, Lejniece Sandra
Faculty of Medicine, Riga Stradins University, Riga, Latvia.
Department of Internal Diseases, Riga Stradins University, Riga, Latvia.
J Med Case Rep. 2017 Aug 21;11(1):243. doi: 10.1186/s13256-017-1413-1.
Klippel-Trenaunay-Weber syndrome is a rare syndrome; unfortunately, very few studies of the connection between hypersplenism, nephrotic syndrome, and Klippel-Trenaunay-Weber syndrome have been published.
We report the case of a 40-year-old white man with a typical clinical presentation of Klippel-Trenaunay-Weber syndrome, including "port-wine stains," varicose veins, hypertrophy of lower extremities, and arteriovenous fistula, as well as an unfortunate development of hypersplenism and nephrotic syndrome.
This case report described considerable atypical relevance of Klippel-Trenaunay-Weber syndrome and hypersplenism together with nephrotic syndrome. A multidisciplinary approach was made. Unfortunately, hypersplenism is characterized by pancytopenia that suggests splenectomy, whereas nephrotic syndrome is an indication for renal biopsy; the splenectomy and renal biopsy were delayed due to our patient's severe condition. Deeper analysis including study of other patients with Klippel-Trenaunay-Weber syndrome would help us to understand the connection between elevated spleen and liver sizes, nephrotic syndrome, and Klippel-Trenaunay-Weber syndrome.
克-特-韦综合征是一种罕见综合征；遗憾的是，关于脾功能亢进、肾病综合征与克-特-韦综合征之间关联的研究发表极少。
我们报告一例40岁白人男性病例，其具有克-特-韦综合征典型临床表现，包括“葡萄酒色斑”、静脉曲张、下肢肥大及动静脉瘘，同时不幸并发脾功能亢进和肾病综合征。
本病例报告描述了克-特-韦综合征与脾功能亢进以及肾病综合征之间相当非典型的相关性。我们采取了多学科方法。遗憾的是，脾功能亢进表现为全血细胞减少提示需行脾切除术，而肾病综合征则是肾活检的指征；由于患者病情严重，脾切除术和肾活检均被推迟。包括对其他克-特-韦综合征患者进行研究在内的更深入分析，将有助于我们理解脾脏和肝脏增大、肾病综合征与克-特-韦综合征之间的关联。
