PHENOTYPIC VARIATION IN SJOGREN LARSSON

研究了干燥-拉尔森综合征（SLS）患者为什么有些症状严重，有些症状轻微。SLS是由于负责脂肪醛和脂肪醇代谢的缺陷基因引起的脂肪醇代谢的遗传性疾病。由该综合征引起的症状是脱皮、发育迟缓、痉挛、智力迟钝和不能行走。患者可以很好地存活到成年。未代谢脂肪的积累被认为是引起症状的原因。本研究的目的是确定SLS的症状是否以及在多大程度上受到脂肪醇代谢和这种脂肪的饮食摄入量变化的影响。这项研究将包括两个部分。SLS患者可入组两个部分，正常志愿者仅入组第二部分。SLS患者将被送往综合临床研究中心三天，在此期间，他们将接受体检，以确定身体的组成。将拍摄皮肤问题的照片。检查眼睛是否有闪烁的白色斑点。将进行脑部MRI（磁共振成像）以确定脑部疾病。将进行皮肤活检。将采集血液样本以测量脂肪醇蓄积。将给出如何在家里记录饮食史的说明。食物的种类和数量将被记录。第2部分将纳入成人SLS和正常受试者。这将需要三天的时间，受试者将被给予一种脂肪酒精饮料。禁食一夜后，将静脉注射液体和糖8小时。禁食将持续8小时。将在48小时内采集11份血样。

An investigation as to why some patients with Sjogren-Larsson Syndrome (SLS) have severe symptoms and some have mild symptoms. SLS is a genetic disorder of fatty alcohol metabolism due to a faulty gene that is responsible for the metabolism of fatty aldehydes and fatty alcohol. Symptoms resulting form this syndrome are scaling skin, developmental delay, spasticity, mental retardation, and inability to walk. Patients survive well into adulthood. The accumulation of the unmetabolized fat is thought to cause the symptoms. The purpose of this study is to determine whether and to what extent the symptoms of SLS are effected by variation in the metabolism of fatty alcohol and in the dietary intake of this fat. This study will consist of two parts. Patients with SLS may be enrolled in both parts and normal volunteers will be enrolled only in the second part. SLS patients will be admitted to the General Clinical Research Center for three days during which they will be given a physical to determine the makeup of the body. Photographs will be taken of the skin problems. The eyes will be examined for glistening, white spots. A brain MRI (magnetic resonance imaging) will be done to determine brain disease. A skin biopsy will be performed. Blood samples will be taken to measure fatty alcohol accumulation. Instructions will be given on how to record a dietary history at home. Types and amounts of food will be recorded. In part 2, adult SLS and normal subjects will be included. It will take three days and subjects will be given a type of fatty alcohol to drink. After an overnight fast, fluids and sugar will be given intravenously for eight hours. Fasting will continue for eight more hours. Eleven blood samples will be taken over a 48 hour period.