![內皮細胞生長因子](/img/e/d3d/nBnauM3X4IzM4MDN4UjM2QDOyITM2gTMwkjMwADMwAzMxAzL1IzL3EzLt92YucmbvRWdo5Cd0FmLwE2LvoDc0RHa.jpg)
臨床症狀可發生於任何年齡,但最常見於出生後的第2年,常在10歲內死亡。也可於5~7歲發病,偶見於成人時發病。早期表現為步態不穩、精神退化、尿失禁。兒童可有失明、言語能力喪失、四肢輕癱和周圍神經病。成人痴呆是常見的表現,病情可進展緩慢。通過分析白細胞或培養的皮膚成纖維細胞中芳香基硫酸脂酶A活性可確定診斷。通過檢查培養的羊水細胞中該酶活性,可作產前診斷,這有優生學意義。
Clinicalsymptomscanoccuratanyage,butthemostcommonin2yearsafterthebirth,oftendiewithin10yearsold.Alsocanbein5to7yearsold,theoccasionallyseeninadults.Earlyperformanceforunsteadygait,spiritualdegenerationandurinaryincontinence.Childrencanhaveblindness,speechdisability,limbparalysisandperipheralneuropathy.Adultdementiaisacommonperformance,conditioncanbeslow.ThroughtheanalysisofwhitebloodcellsorculturedskinfibroblastsinaromaticacidlipaseactivitycanbesetforAdiagnosis.Byexaminingtheculturedamnioticfluidcellsintheenzymeactivity,canmakeprenataldiagnosis,ithasmeaningofeugenics.介紹
![內皮細胞生長因子](/img/8/893/nBnauM3XyQDOzIDM5UjM2QDOyITM2gTMwkjMwADMwAzMxAzL1IzLygzLt92YucmbvRWdo5Cd0FmLxE2LvoDc0RHa.jpg)
男性兒童或青春期發病,臨床表現為四肢疼痛,感覺異常,皮膚、黏膜的血管擴張(血管角質瘤),也可有角膜及晶狀體混濁。隨年齡增長,出現白蛋白尿、低滲尿、淋巴水腫,嚴重腎損害導致高血壓和尿毒症。常死於腎功能衰竭或心、腦血管病。雜合子女性大多有中等水平酶活性,多無症狀,偶有嚴重的像男性病人的臨床表現及特徵性的螺鏇樣角膜上皮萎縮(裂隙燈檢查發現)。