PROTEINURIA AND B12-DEFICIENCY ANEMIA IN THE STRUCTURE OF IMERSLUND–GRASBECK SYNDROME: CASE REPORT
The article presents literature data and a clinical case on the rare Imerslund-Grasbeck syndrome. The pathogenetic foundations, the features of the clinical picture, course and treatment of this syndrome in children are discussed. Own clinical observation of the syndrome of Imerslund-Grasbeck in a 8...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2017-06-01
|
| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/503 |
| Summary: | The article presents literature data and a clinical case on the rare Imerslund-Grasbeck syndrome. The pathogenetic foundations, the features of the clinical picture, course and treatment of this syndrome in children are discussed. Own clinical observation of the syndrome of Imerslund-Grasbeck in a 8 years girl is presented. We presented a summary table with described in the literature of mutations in different ethnic groups. The authors indicated the need for molecular genetic studies of genes CUBN and AMN in children with the combination of proteinuria and B12-deficiency anemia to diagnose the Imerslund-Grasbeck syndrome. Patients with the Imerslund-Grasbeck syndrome require lifelong replacement therapy with cobalamin, observation by a nephrologist and a hematologist. |
|---|---|
| ISSN: | 1027-4065 2500-2228 |