A case of nephrosialidosis caused by mutation of neuraminidase 1 gene

VernacularTitle:NEU1基因突变导致的肾唾液酸沉积症1例
Author: Xiaoyi CAI ¹ ; Huiying DENG ; Ye CHEN ; Mei TAN ; Xia GAO
Author Information

1. 广州市妇女儿童医疗中心肾内科，广州　510120
Keywords: Mucolipidoses; Kidney; Mutation; Sialidosis
From: Chinese Journal of Nephrology 2023;39(9):712-715
CountryChina
Language:Chinese
Abstract: The child was a 9-year-old girl, and sought medical advice due to "proteinuria for over a month". Renal biopsy result showed focal segmental glomerulosclerosis with diffuse vacuolization of glomerular podocytes and tubular epithelial cells. The child was diagnosed as type Ⅱ sialidosis with a compound heterozygote mutation in neuraminidase 1 gene for c.239C>T(p.Pro80Leu), c.220G>C(p.Val74Leu) and c.205A>G(p.Arg69Gly). Her father was proved to carry the first mutation, and her mother carried the other two, respectively. The report aims to improve the clinician's understanding of the rare disease. Early diagnosis can help avoid overuse of immunosuppressants, guide treatment reasonably and improve prognosis.