Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder.
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.
Ishiwari
Kouhei
K
Department of Pediatrics, Ayabe Municipal Hospital, Ayabe, Japan.
Kotani
Masaharu
M
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.
Suzuki
Minoru
M
Supra-Biomolecular Research System, RIKEN Frontier Research System, RIKEN, Wako, Japan.
Pumbo
Elena
E
Supra-Biomolecular Research System, RIKEN Frontier Research System, RIKEN, Wako, Japan.
Suzuki
Akemi
A
Supra-Biomolecular Research System, RIKEN Frontier Research System, RIKEN, Wako, Japan.
Kobayashi
Toshihide
T
Supra-Biomolecular Research System, RIKEN Frontier Research System, RIKEN, Wako, Japan.
Ueno
Tamaki
T
Department of Pediatrics, Ayabe Municipal Hospital, Ayabe, Japan.
Fukushige
Tomoko
T
Department of Dermatology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Kanzaki
Tamotsu
T
Department of Dermatology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Imada
Masato
M
Department of Anatomy, Nihon University School of Medicine, Tokyo, Japan.
Itoh
Kohji
K
Division of Medicinal Biotechnology, Institute of Medical Resources, Faculty of Pharmaceutical Sciences, The University of Tokushima, Tokushima, Japan.
Akioka
Shinji
S
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Tajima
Youichi
Y
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
Hitoshi
H
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.
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*
D019158:N-Acetylneuraminic Acid