Matsuo T, Matsuo N, Shiraga F, Koide N
Department of Ophthalmology, Okayama University Medical School, Japan.
Jpn J Ophthalmol. 1988;32(3):249-54.
Retinol-binding protein (RBP) is a plasma protein with a molecular weight of 21,000 synthesized in the hepatocytes, binding with retinol (vitamin A), and transporting retinol to peripheral tissues. Keratomalacia is caused by a deficiency of vitamin A itself and/or protein-calorie malnutrition. In the latter condition, production of RBP is inhibited. We report herein familial hypo-retinol-binding proteinemia in a child aged 19 months who developed keratomalacia during measles infection in spite of good nourishment. To the best of our knowledge this is the first description of such a case. The patient, her sister and mother showed persistent low levels, about half the normal levels, of retinol and RBP which were unresponsive to oral vitamin A and protein-rich diet. They had normal liver function tests, normal serum levels of other proteins and fat-soluble vitamins and lipids. This hypo-retinol-binding proteinemia was thought to predispose the child to develop keratomalacia during measles. Family members would be heterozygous with one normal RBP gene and one defective RBP gene.
视黄醇结合蛋白（RBP）是一种分子量为21,000的血浆蛋白，由肝细胞合成，与视黄醇（维生素A）结合，并将视黄醇转运至外周组织。角膜软化症是由维生素A本身缺乏和/或蛋白质 - 热量营养不良引起的。在后一种情况下，RBP的产生受到抑制。我们在此报告一名19个月大的儿童患家族性低视黄醇结合蛋白血症，尽管营养良好，但在麻疹感染期间仍发生了角膜软化症。据我们所知，这是此类病例的首次描述。该患者、她的姐姐和母亲的视黄醇和RBP水平持续偏低，约为正常水平的一半，对口服维生素A和富含蛋白质的饮食无反应。他们的肝功能检查正常，其他蛋白质、脂溶性维生素和脂质的血清水平也正常。这种低视黄醇结合蛋白血症被认为使该儿童在麻疹期间易患角膜软化症。家庭成员可能是杂合子，有一个正常的RBP基因和一个有缺陷的RBP基因。
