Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland
Coordinated medical care offered in Poland for patients suffering from neurofibromatosis type 1 and related RASopathies combines complex multispecialty consultation with permanent supervision and the patient’s oriented longitudinal care. Neurofibromatosis type 1 is one of the most common single gene...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Termedia Publishing House
2019-05-01
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| Series: | Archives of Medical Science |
| Subjects: | |
| Online Access: | https://www.archivesofmedicalscience.com/Coordinated-medical-care-for-children-with-neurofibromatosis-type-1-and-related-RASopathies,108441,0,2.html |
| Summary: | Coordinated medical care offered in Poland for patients suffering from neurofibromatosis type 1 and related RASopathies combines complex multispecialty consultation with permanent supervision and the patient’s oriented longitudinal care. Neurofibromatosis type 1 is one of the most common single gene disorders in the global population, observed in 1 out of 2500–3000 live births. It is a primary neoplasia disease with 100% penetration of the gene mutation but remarkable age-dependent onset of different disease signs and symptoms, outstanding clinical heterogeneity between patients even in one family and lack of genotype-phenotype correlation, a high rate of spontaneous mutation exceeding 50%, and multiple comorbidities among which increased risk of malignancy is the most important. Medical practice proved that not only patient-oriented complex but also coordinated care provided in centers of competence is indispensable for patients and the families and provides a sense of medical security to them in conjunction with public health costs rationalization. |
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| ISSN: | 1734-1922 1896-9151 |