The clinic, diagnosis and treatment of children with osteogenesis imperfecta

Z.K. Umarova, G.S. Mamadjanova, D.A. Mukaramova

Chair of Family Medicine №2
pediatric diseases №1 Avicenna TSMU

The results of investigations 9 patients with osteogenesis imperfect, identified among 561 children with frequent colds were presented. Osteogenesis imperfecta - a genetic disease of connective tissue (Lobstein- Vrolik’s disease ) caused by mutations in collagen genes of type I due to impaired osteoblast function, which leads to a progressive deformation and fructure of long bones, disruption of bone formation, hypermotility of joints.

All children were born from mothers with extragenital and genital diseases. The diagnosis was confirmed by anamnesis,additional methods (X-ray, ultrasound of internal organs), and consulting of specialists. There were also ekstraskeletal symptoms: progressive deafness, osteosclerosis, congenital heart defects, and blue sclera. A comprehensive treatment: gentle lifestyle, calorie diet rich in protein, calcium, phosphorus, magnesium, vitamins, supplements, containing amino acids, vitamin D3 - Nycomed, homeopathic drugs, immunomodulators, massage and physical therapy, which gave positive results.

Keywords: osteogenesis imperfecta, Lobstein-Vrolik's disease.

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