title: Keratomalacia in a child with familial hypo-retinol-binding proteinemia.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Okayama University Medical School, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Matsuo
authors.forename: N
authors.initials: N
authors.lastname: Matsuo
authors.forename: F
authors.initials: F
authors.lastname: Shiraga
authors.forename: N
authors.initials: N
authors.lastname: Koide
mesh_terms: D002648:Child; D003316:Corneal Diseases / Q000209:etiology*; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008457:Measles / Q000150:complications*; D010375:Pedigree; D011502:Protein-Energy Malnutrition / Q000150:complications* / Q000235:genetics; D012177:Retinol-Binding Proteins / Q000172:deficiency*; D054839:Retinol-Binding Proteins, Plasma; D014801:Vitamin A / Q000627:therapeutic use; D014802:Vitamin A Deficiency / Q000150:complications / Q000235:genetics
chemical_list: D012177:Retinol-Binding Proteins; D054839:Retinol-Binding Proteins, Plasma; D014801:Vitamin A