Diagnosis of Osteogenesis Imperfecta in Children
Açar sözlər
Mücərrəd
Təsvir
Osteogenesis imperfecta is a genetic disorder of the connective tissue matrix caused by abnormal collagen microfibril assembly, .Several clinical subtypes of Osteogenesis imperfecta have been described based on the clinical, biochemical, and molecular nature of the disorder . New research is emphasizing the structural interaction within the microfibril and identifying regions within the collagen, which play greater or lesser roles in the structural properties of the triple helix, .In taking this information into account, clinical phenotypes resulting from certain mutations can be predicted because of this pathogenetic correlation.
The clinical manifestations vary considerably, ranging from a severe perinatal lethal form to a mild disorder which only becomes evident in adulthood, manifesting as premature osteoporosis, .Most commonly, however, Osteogenesis imperfecta presents in childhood with multiple fractures and related complications, .The precise incidence of Osteogenesis imperfecta is unknown and reports vary from approximately 1/100,000 to 1/25,000 dependent on the criterion used to define Osteogenesis imperfecta.
Severe forms and milder disease occur with approximately similar incidence. Severe and mild forms share the cardinal feature of bone fragility, which is characterized by bone fractures often after little or no trauma, .Several findings in Osteogenesis imperfecta are common to other disorders of connective tissues; hyper-mobile joints and a blue sclera are among these features frequently described, The incorporation of abnormal type 1 collagen in teeth results in brittle opalescent teeth, the hallmark of Dentinogenesis Imperfecta, often seen in Osteogenesis imperfecta, .Progressive conductive hearing loss in early adulthood is the result of damage to the ossicles in the middle ear; over time, hearing loss typically progresses and combined conductive and sensorineural hearing loss may be seen in adults, similar to that of otosclerosis. Short stature and bone deformity are common features of the disorder The mainstay of treatment is orthopedic management along with physiotherapy, Bisphosphonates are being evaluated for efficacy and clinical trials have shown improvement at least in bone mineral density
Disorders associated with fragility fractures in children:
A) Primary conditions
1. Genetic disorders :- Osteogenesis imperfecta - Ehlers-Danlos syndrome - Marfan syndrome Homocystinuria - Osteoporosis - Hypophosphatasia Polyostotic fibrous dysplasia - Rickets (genetic forms)
2. Idiopathic juvenile osteoporosis B) Secondary conditions
1- Chronic inflammatory conditions Systemic lupus erythematosus - Inflammatory bowel disease - Nephrotic syndrome 2- Reduced mobility Cerebral palsy - Duchenne muscular dystrophy - Posttraumatic 3- Infiltrative Leukemia - Thalassemia
4- Endocrine Hypogonadism - Growth hormone deficiency - Cushing syndrome Hyperthyroidism - Diabetes mellitus 5- Nutritional/malabsorptive Vitamin D deficiency - Celiac disease - Biliary atresia Cystic fibrosis - Anorexia nervosa 6- Renal Chronic kidney disease - Secondary hyperparathyroidism 7- Iatrogenic Glucocorticoids - Anticonvulsants - Methotrexate - Radiation therapy
Tarixlər
Son Doğrulandı: | 04/30/2017 |
İlk təqdim: | 05/24/2017 |
Təxmini qeydiyyat təqdim edildi: | 05/24/2017 |
İlk Göndərmə: | 05/29/2017 |
Son Yeniləmə Göndərildi: | 05/24/2017 |
Son Yeniləmə Göndərildi: | 05/29/2017 |
Həqiqi Təhsilin Başlama Tarixi: | 05/31/2017 |
Təxmini İlkin Tamamlanma Tarixi: | 12/31/2018 |
Təxmini İşin Tamamlanma Tarixi: | 02/28/2019 |
Vəziyyət və ya xəstəlik
Müdaxilə / müalicə
Drug: Repeated fractures group
Faza
Qol Qrupları
Qol | Müdaxilə / müalicə |
---|---|
Repeated fractures group detection of gene mutations of osteogenesis imperfecta in single group of patients with repeated fractures then start treatment with zoledronic acid in doses children less than 5 years ( 0.025 milligram for each kilogram every 3 months for 18 months duration) children more than 5 years ( 0.05 milligram for each kilogram every 6 months for 18 months duration) | Drug: Repeated fractures group intravenous injections once every 3 months |
Uyğunluq Kriteriyaları
Təhsil üçün uyğun yaşlar | 1 Month Üçün 1 Month |
Təhsilə Uyğun Cinslər | All |
Nümunə götürmə metodu | Non-Probability Sample |
Sağlam Könüllüləri qəbul edir | Bəli |
Kriteriyalar | Inclusion Criteria: 1. Positive family history of fractures or stillbirths. 2. Results of biochemical tests correlate with osteogenesis imperfecta. 3. Low bone density. Exclusion Criteria: 1. Presence of secondary causes of fractures. 2. Abnormalities of biochemical tests or hormonal profile. 3. Negative family history. 4. Fractures in same site each time. |
Nəticə
İlkin nəticə tədbirləri
1. Percentage of children diagnosed as osteogenesis imperfecta [1 month]