Juvenile variant of Schimke immunoosseous dysplasia
| Autor: | Kazuhiro Hashimoto, Masaaki Kasagi, Atsushi Ieshima, Mitsuyoshi Takada, Ariko Takeuchi |
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| Rok vydání: | 1994 |
| Předmět: |
Spondyloepiphyseal dysplasia
medicine.medical_specialty Pediatrics Nephrotic Syndrome Adolescent Osteochondrodysplasias Internal medicine Lymphopenia medicine Humans Genetics (clinical) Immunity Cellular Proteinuria business.industry Schimke immuno-osseous dysplasia Immunologic Deficiency Syndromes Glomerulonephritis medicine.disease Osteochondrodysplasia Radiography Endocrinology Female Lymphocytopenia Age of onset medicine.symptom business Nephrotic syndrome |
| Zdroj: | American journal of medical genetics. 49(3) |
| ISSN: | 0148-7299 |
| Popis: | We report on a 16-year-old girl with spondyloepiphyseal dysplasia, nephrotic syndrome, lymphopenia, and signs of defective cellular immunity. The manifestations are very similar to those reported by Spranger et al. [1991: J. Pediatr 119: 64-72] as Schimke immunoosseous dysplasia, except for age of onset. In Schimke immunoosseous dysplasia, growth retardations as an initial symptom is noted in early childhood and about 1 year after onset of progressive proteinuria. In our case the skeletal abnormality was noted at age 10 years as dislocation of the hip joints and the diagnosis of nephrotic syndrome was made at age 16 years. The findings strongly suggest that our patient has a juvenile variant of Schimke immunoosseous dysplasia. |
| Databáze: | OpenAIRE |
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