10 Secret Tips to Help Children Live with Osteogenesis Imperfecta
Dr Khalid Rahman
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Unboxing Osteogenesis Imperfecta in the Light of Scientific Evidence
What is Osteogenesis imperfecta?
Osteogenesis imperfecta is an inherited genetic condition that leads to fragility in bones. More than 90% of babies with osteogenesis imperfecta have defects in their COL1A2 gene (which codes for proα2[I] type I collagen subunit) or COL1A1 gene (which codes for proα1[I] collagen subunit). Almost 10% of patients with osteogenesis imperfecta have defects in the processing and folding of unknown proteins that consequentially disrupt collagen secretion.
Collagen is a connective tissue protein that effectively strengthens ligaments, tendons, bones, and muscles in your body.
Osteogenesis imperfecta can also be caused by >100 abnormal alleles (or alternative types/variants of a mutated gene). The mechanisms of this disease correlate with the interactions between phenotypes (or observable characteristics) and genotypes (or genetic features) and alterations in DNA sequences of the abnormal genes.
Health complications due to osteogenesis imperfecta
Patients with osteogenesis imperfecta are known to have brittle bones which are at a high risk of fracture and severe deformities. Several imaging tests, including X-rays, Dual Energy X-ray Absorptiometry (DEXA), and bone biopsy, as well as genetic testing, are used to categorize various types and clinical complications of osteogenesis imperfecta.
1. Mild or type I osteogenesis imperfecta is an autosomal dominant (inherited) condition arising from the proα1(I) chain’s loss of function that reduces the overall quantity of its mRNA to 50% without affecting its quality. The following characteristics are observed in patients with this condition.
More than 50% of babies with osteogenesis imperfecta are affected with type I condition and develop few bony abnormalities or fractures.
2. Type II or perinatal lethal osteogenesis imperfecta is a sporadic (autosomal dominant) condition that occurs due to structural variations in proα2(I) and proα1(I) chains, leading to a drastic reduction in the quantity and quality of collagen. This condition leads to the following complications.
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Type II disease has the highest severity and could lead to undeveloped lungs, low birth weight, fractured bones, a soft skull, a small chest, and too short legs/arms. Babies with this condition usually leave this world within some weeks of their arrival.
3. Type III or progressive deforming osteogenesis imperfecta is an autosomal dominant condition, which is the outcome of those structural variations in proα2(I) and proα1(I) chains that do not impact the quantity of collagen but compromise its quality to a severe extent. Type III condition results in the occurrence of the following abnormalities.
No newborn mortality is usually reported with type III osteogenesis imperfecta. The affected babies could variably have swallowing issues, breathing difficulty, spine/chest deformity, triangular face, large-sized head, rib fractures, and short legs and arms.
4. Type IV or deforming with normal scleras osteogenesis imperfecta is an autosomal dominant condition triggered by proα2(I) structural variations, resulting in abnormal/low-quality collagen, which is usually normal in quantity. The following characteristics are mostly observed in patients with the type IV condition.
Type IV osteogenesis imperfecta is associated with mild-to-severe complications at birth. Babies with this condition could have deformed legs/arms, an absence of normal growth, and may develop fractures in bones after they start walking or crawling.
Is it possible to treat osteogenesis imperfecta?
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