Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder

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• 作者：Kouhei Ishiwari ; Masaharu Kotani ; Minoru Suzuki ; Elena Pumbo ; Akemi Suzuki ; Toshihide Kobayashi ; Tamaki Ueno ; Tomoko Fukushige ; Tamotsu Kanzaki and Masato Imada ; et al.
• 关键词：Salla disease ; Infantile free sialic acid storage disease ; Sialic acid ; Lectin ; Mass spectrometry ; Proteinuria
• 刊名：Journal of Human Genetics
• 出版年：2004
• 出版时间：December 2004
• 年：2004
• 卷：49
• 期：12
• 页码：656-663
• 全文大小：474 KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Molecular Medicine
  Cancer Research
  Cell Biology
  Immunology
  Neurosciences
  
• 出版者：Springer Japan
• ISSN：1435-232X

文摘

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 patients urine. Immuno- and lectin staining of the patients 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 patients 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.