Introduction: Achondroplasia is the most common bone dysplasia. It is caused by mutations in the FGFR3 gene, which is involved in regulation of proliferation and maturation of chondrocytes on the growth plates. Activating mutation results in impaired endochondral ossification and a wide range of symptoms: severe growth disorder with limb shortening, macrocephaly with risk of hydrocephalus, mid-facial dysplasia, sleep apnea, narrowing of the spinal canal, increased risk of respiratory complications, and airway inflammation. The current rapid technological development has led to a better understanding of the processes of epiphyseal growth cartilage, thus enabling the development of new drugs for the treatment of this disorder (modified CNP, soluble FGFR3, meclozine). Nevertheless, current treatment is primarily symptomatic. It is very important to have a growth patterns of patients with achondroplasia who have not been affected by any growth promoting treatment (prolongation surgery, growth hormone). Objectives: The aim of this study is to evaluate the growth of Czech patients with achondroplasia, to compare our data with the world-wide used data by Horton et al. (1978) and the current data by del Pino et al. (2018). The next aim was to verify the accuracy of the multiplier method of final height...
| Identifer | oai:union.ndltd.org:nusl.cz/oai:invenio.nusl.cz:388449 |
| Date | January 2018 |
| Creators | Anýžová, Tereza |
| Contributors | Zemková, Daniela, Moslerová, Veronika |
| Source Sets | Czech ETDs |
| Language | Czech |
| Detected Language | English |
| Type | info:eu-repo/semantics/masterThesis |
| Rights | info:eu-repo/semantics/restrictedAccess |
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