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Neuraminidase deficiency presenting as a nephrosialidosis: The first case detected in Poland
Author(s) -
TYLKISZYMANSKA ANNA,
ŁUGOWSKA AGNIESZKA,
CZARTORYSKA BARBARA
Publication year - 1996
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1996.tb03539.x
Subject(s) - medicine , neuraminidase , hepatosplenomegaly , nephrotic syndrome , edema , urinary system , proteinuria , pediatrics , pathology , gastroenterology , immunology , disease , virus , kidney
A defect of lysosomal neuraminidase (sialidase N‐acetyl‐neuramine acid hydrolase EC 3.2.1.18) leads to a wide spectrum of phenotypes, the most severe of which is nephrosialidosis. A 4‐year‐old boy of related parents, born at term with hydrops fetalis, is reported. Hydrocephalus was detected at 2 months of age. The child's course over 3 years was characterized by slow growth and psychomotor development. He had mild hepatosplenomegaly, joint restriction, gingival hypertrophy, lens opacities and cherry‐red spot. Coarse facial features and depressed nasal bridge were discreet. At the age of 3.5 years, he developed gradual progressive edema, decreased activity and increased fatigue. A diagnosis of nephrotic syndrome was made because of massive proteinuria. Thin‐layer chromatography of urinary oligosaccharides revealed the presence of several abnormal sialyloligosaccharides. The diagnosis was confirmed by measurement of neuraminidase activity in cultured skin fibroblasts.