Osteogenesis Imperfecta
- Also known as brittle-bone disease.
- Is a genetic (inherited) disorder characterized by bones that break easily without a specific cause.
Etiology
- People with the disease have an error (mutation) in the genetic instructions on how to make strong bones. As a result their bones break easily.
Pathophysiology
- Can result from autosomal dominant or recessive inheritance.
- Mutation change occurs in the DNA (the genetic code) within a gene that makes collagen, a major component of the connective tissues in bones, ligaments, teeth, and the white outer tissue of the eyeballs (sclera).
- The reticulum fails to differentiate into mature collagen or causes abnormal collagen development.
- Leading to immature, coarse bone formation and cortical bone thinning.
- Result in fragile bones that break easily.
Signs and Symptoms
- Multiple fractures at birth
- Bilaterally bulging skull
- Triangular shaped head and face
- Prominent eyes
- Blue or gray tinted sclera
- Pain and bone swelling
- Loss of function
- Thin, translucent skin
- Teeth that breaks easily
- Breathing problems
- Delayed walking
- Scoliosis as the child grows
- Tinnitus
- Hearing loss
- Kidney stone
- Urinary problems
Assessment
- Family history and characteristics features such as blue sclera or deafness.
- Complete medical history and physical examination.
- Skin biopsy to determine the amount and structure of collagen.
- X-ray showing evidence of multiple old and new fractures and skeletal deformities.
- Eye examination to detect connective tissue problems of the eye.
- Bone Mineral Density (BMD) test
- Complete blood count
- Arthroscopy
- Bone biopsy.
Nursing Diagnoses
- Pain
- Impaired physical mobility
- Risk for injury
- Risk for infection
- Self-care deficit
- Knowledge deficit
- Impaired gas exchange
- Anxiety
- Ineffective individual coping
Nursing Interventions
- Support limbs, do not pull on arms or legs or lift the legs to prevent more fractures or deformities.
- Position the patient with care.
- Check the patient’s circulatory, motor, and sensory abilities.
- Provide emergency care of fractures.
- Observe for signs of compartment syndrome.
- Encourage diet high in protein and vitamins to promote healing.
- Encourage fluids to prevent constipation, renal calculi, and urinary tract infection.
- Provide care for client with traction, with cast, or with open reduction.
- Encourage mobility when possible.
- Administer analgesics as prescribed.
- Teach the patient preventive measures.
- Monitor hearing needs.
- Aggressively teach all upper respiratory infections including colds.
Complications
- Pressure ulcer
- Pneumonia
- Constipation
- Anorexia
- Urinary stasis
- Infection
- Hypovolemic shock
- Pathologic fracture
- Irreversible hearing loss
- Fat embolism
- Scoliosis
Daisy Jane Antipuesto RN MN
Currently a Nursing Local Board Examination Reviewer. Subjects handled are Pediatric, Obstetric and Psychiatric Nursing. Previous work experiences include: Clinical instructor/lecturer, clinical coordinator (Level II), caregiver instructor/lecturer, NC2 examination reviewer and staff/clinic nurse. Areas of specialization: Emergency room, Orthopedic Ward and Delivery Room. Also an IELTS passer.
