title: Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder.
abstract: We report the first Japanese case of Salla disease. A 5-year-old male patient developed unique proteinuria with other clinical manifestations, including coarse facies, dysostosis multiplex, mild mitral valve regurgitation, umbilical and inguinal herniation, and mild developmental delay. Pathological analysis of biopsied kidney tissues showed marked vacuolation of podocytes, mesangial cells, capillary endothelial cells, and tubular cells. Biochemical studies involving thin-layer chromatography and mass spectrometry revealed increased excretion of free sialic acid (N-acetylneuraminic acid) into the patient's urine. Immuno- and lectin staining of the patient's cells demonstrated the accumulation of sialyl and asialyl glycoconjugates in lysosomes and late endosomes. A defect in sialyl glycoconjugate metabolism is thought to have occurred in the patient's cells, besides impairment of the lysosomal transport of free sialic acid residues. A renal disorder should be considered as an important manifestation, not only in infantile free sialic acid storage disease but also in Salla disease.
authors.affiliation: Department of Pediatrics, Ayabe Municipal Hospital, Ayabe, Japan.
authors.forename: Kouhei
authors.initials: K
authors.lastname: Ishiwari
authors.affiliation: Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, 3-18-22 Honkomagome, Bunkyo-ku, Tokyo 113-8613, Japan.
authors.forename: Masaharu
authors.initials: M
authors.lastname: Kotani
authors.affiliation: Supra-Biomolecular Research System, RIKEN Frontier Research System, RIKEN, Wako, Japan.
authors.forename: Minoru
authors.initials: M
authors.lastname: Suzuki
authors.affiliation: Supra-Biomolecular Research System, RIKEN Frontier Research System, RIKEN, Wako, Japan.
authors.forename: Elena
authors.initials: E
authors.lastname: Pumbo
authors.affiliation: Supra-Biomolecular Research System, RIKEN Frontier Research System, RIKEN, Wako, Japan.
authors.forename: Akemi
authors.initials: A
authors.lastname: Suzuki
authors.affiliation: Supra-Biomolecular Research System, RIKEN Frontier Research System, RIKEN, Wako, Japan.
authors.forename: Toshihide
authors.initials: T
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics, Ayabe Municipal Hospital, Ayabe, Japan.
authors.forename: Tamaki
authors.initials: T
authors.lastname: Ueno
authors.affiliation: Department of Dermatology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Fukushige
authors.affiliation: Department of Dermatology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Tamotsu
authors.initials: T
authors.lastname: Kanzaki
authors.affiliation: Department of Anatomy, Nihon University School of Medicine, Tokyo, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Imada
authors.affiliation: Division of Medicinal Biotechnology, Institute of Medical Resources, Faculty of Pharmaceutical Sciences, The University of Tokushima, Tokushima, Japan.
authors.forename: Kohji
authors.initials: K
authors.lastname: Itoh
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Shinji
authors.initials: S
authors.lastname: Akioka
authors.affiliation: Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, 3-18-22 Honkomagome, Bunkyo-ku, Tokyo 113-8613, Japan.
authors.forename: Youichi
authors.initials: Y
authors.lastname: Tajima
authors.affiliation: Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, 3-18-22 Honkomagome, Bunkyo-ku, Tokyo 113-8613, Japan. sakuraba@rinshoken.or.jp.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Sakuraba
mesh_terms: D001692:Biological Transport; D002675:Child, Preschool; D042783:Endothelial Cells / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007564:Japan; D007674:Kidney Diseases / Q000150:complications / Q000473:pathology* / Q000652:urine*; D007684:Kidney Tubules / Q000378:metabolism / Q000473:pathology*; D008247:Lysosomes / Q000378:metabolism / Q000473:pathology*; D008297:Male; D019158:N-Acetylneuraminic Acid / Q000652:urine*; D029461:Sialic Acid Storage Disease / Q000150:complications / Q000473:pathology* / Q000652:urine*
chemical_list: D019158:N-Acetylneuraminic Acid