DISEASES ASSOCIATED WITH MUTATIONS IN THE FILAMIN A GENE: THE DIFFICULT PATH TO DIAGNOSIS (TWO CLINICAL CASES)
| Autor: | Inna Trunina, Kirill Savost'anov, Savostyanov, IRINA MIKLASHEVICH, Elena Zaklyazminskaya, E.N. Basargina, Anna Shestak, Natalia Shcherbakova |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Pediatria. Journal named after G.N. Speransky. 101:202-208 |
| ISSN: | 1990-2182 0031-403X |
| DOI: | 10.24110/0031-403x-2022-101-1-202-208 |
| Popis: | The article presents the first descriptions of observations in the Russian Federation, the difficult path to diagnosis in two young girls with diseases associated with mutations in the filamin A gene, characterized by damage to the central nervous system (periventricular nodular heterotopy), lungs (interstitial emphysematous lesion due to impaired growth), cardiovascular system (open arterial duct, high pulmonary hypertension, insufficiency of heart valves, large vessels). Clinical and anamnestic data, the results of laboratory and instrumental diagnostic methods, including molecular genetic ones, which allowed to identify unique, previously undescribed mutations, the characteristics of the course of the disease, the treatment being carried out, are presented. |
| Databáze: | OpenAIRE |
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