Pathogenesis Imperfecta Case Paper
Case
A 10-year-old boy is seen for evaluation of short stature and tibial deformity. His past medical history is notable for term birth with the following birth parameters: birth weight was 2460 grams (30 ng/ml), elevated alkaline phosphatase level (491 U/L; normal 100-325 U/L), normal calcium and phosphorous levels, and elevated spot urine N-terminal telopeptides (NTx; 574 nM BCE/mM Cr; normal 152-505 nM BCE/mM Cr). Bone mineral density by Dual-energy X-ray absorptiometry (DXA) showed a total body Z-score of -3.4 indicating bone mineral density below normal range. Molecular genetic testing identified a pathogenic mutation in the IFITM5 gene, confirming a diagnosis of osteogenesis imperfecta, type V.
The Condition
Osteogenesis imperfecta (OI) …show more content…
Although this testing could distinguish patients with OI type I, it provided little insight into other forms of OI. Thus, the current first line strategy to confirm a diagnosis of OI relies on sequence analysis COL1A1, COL1A2, and other genes known to cause rarer forms of OI. If the clinical features suggest a specific form of OI, the specific gene testing to confirm the most likely diagnosis is done. For nonspecific or atypical presentations, all genes can be sequenced concurrently.
Management
The goal of therapy for patients with OI is to maximize their quality of life by decreasing pain and disability while improving mobility and function. Like other forms of OI, the mainstays of treatment for individuals with OI type V include physiotherapy, rehabilitation and if necessary, orthopedic intervention.
Like other forms of OI, individuals with OI type V may benefit from cyclic intravenous bisphosphonates to improve bone density and reduce of symptoms of osteoporosis. Effect on functional parameters in children such as improved energy, decreased bone pain, and increased ambulation are also seen with
A 10-year-old boy is seen for evaluation of short stature and tibial deformity. His past medical history is notable for term birth with the following birth parameters: birth weight was 2460 grams (30 ng/ml), elevated alkaline phosphatase level (491 U/L; normal 100-325 U/L), normal calcium and phosphorous levels, and elevated spot urine N-terminal telopeptides (NTx; 574 nM BCE/mM Cr; normal 152-505 nM BCE/mM Cr). Bone mineral density by Dual-energy X-ray absorptiometry (DXA) showed a total body Z-score of -3.4 indicating bone mineral density below normal range. Molecular genetic testing identified a pathogenic mutation in the IFITM5 gene, confirming a diagnosis of osteogenesis imperfecta, type V.
The Condition
Osteogenesis imperfecta (OI) …show more content…
Although this testing could distinguish patients with OI type I, it provided little insight into other forms of OI. Thus, the current first line strategy to confirm a diagnosis of OI relies on sequence analysis COL1A1, COL1A2, and other genes known to cause rarer forms of OI. If the clinical features suggest a specific form of OI, the specific gene testing to confirm the most likely diagnosis is done. For nonspecific or atypical presentations, all genes can be sequenced concurrently.
Management
The goal of therapy for patients with OI is to maximize their quality of life by decreasing pain and disability while improving mobility and function. Like other forms of OI, the mainstays of treatment for individuals with OI type V include physiotherapy, rehabilitation and if necessary, orthopedic intervention.
Like other forms of OI, individuals with OI type V may benefit from cyclic intravenous bisphosphonates to improve bone density and reduce of symptoms of osteoporosis. Effect on functional parameters in children such as improved energy, decreased bone pain, and increased ambulation are also seen with