PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One
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PATHOPHYSI NR 507
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PATHOPHYSI NR 507
PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One/PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One/PATHOPHYSI NR 507 Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part One
pathophysi nr 507 week 6 dermatologic and musculoskeletal disorders discussion part one
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Week 6: Dermatologic and Musculoskeletal Disorders - Discussion Part
One
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Discussion
This week's graded topics relate to the following Course Outcomes (COs).
1 Analyze pathophysiologic mechanisms associated with selected
disease states. (PO 1)
Differentiate the epidemiology, etiology, developmental
2 considerations, pathogenesis, and clinical and laboratory
manifestations of specific disease processes. (PO 1)
Examine the way in which homeostatic, adaptive, and compensatory
3 physiological mechanisms can be supported and/or altered through
specific therapeutic interventions. (PO 1, 7)
4 Distinguish risk factors associated with selected disease states. (PO
1)
5 Describe outcomes of disruptive or alterations in specific physiologic
processes. (PO 1)
6 Distinguish risk factors associated with selected disease states. (PO
1)
7 Explore age-specific and developmental alterations in physiologic and
disease states. (PO 1, 4)
Discussion Part One (graded)
You are contacted by an attorney representing a client who has been charged with child
abuse and whom faces loss of her child and 15 years in prison. The record indicated that
, 2
the child was 4 years old and presented to the ER room with a broken arm and a broken leg.
, 3
There also appeared to be multiple previous fractures. Now, you examine the child and find
blue sclera, a sunken chest wall, severe scoliosis, and you observe a triangular face and
prominent forehead. You confirm that there have been multiple previous fractures by
evaluating the previous X-rays. This is a genetic disorder.
• What is the most likely genetic disease that this presents and why?
• What is the molecular basis of this disease?
• Before, calling the police what should the initial clinician have done?
Responses
Sarah Boulware 6/5/2016 6:55:52 AM
Part One
Dr. Brown and Class,
Osteogenesis Imperfecta (OI)
According to Shaker, Albert, Fritz, and Harris (2015), OI is a rare genetic bone disease that is associated with brittle
bones and fractures in children and adults. The major clinical manifestation of OI is skeletal fragility with skeletal deformity,
joint laxity, and scoliosis is often present. Other extra skeletal manifestations include hearing loss, blue or gray sclera,
hypercalciuria, aortic root dilations, and neurologic conditions such as macrocephaly and hydrocephalus. Severity can range
from osteoporosis in adults to death children. Clinical manifestations vary and there are several different types of OI. There
are four main types of OI are based on what type of gene mutation occurs. Type I is mild non-deforming, type II is perinatal
lethal, type III is severely deforming, and type IV is moderately deforming. The National Institute of Health (NIH, 2015)
found some of the classic symptoms of OI include a triangular face, barrel-shaped rib cage, brittle teeth, hearing loss, spinal
curvature, mild to moderate bone deformity, muscle weakness and loose joints. This child presents with a history of multiple
fractures, a broken arm and leg, blue sclera, a sunken chest wall, severe scoliosis, and a triangular face with a prominent
forehead. These are classic signs of OI but because the condition is so rare many people often don’t recognize this
Most patients with OI have type I collagen gene mutations, COLIAI and COL1A2. The increased fracture risk in
patients with OI could stem from a combination of reduced bone mass, decreased bone material quality, and bone deformity.
Long bone shaft specimens taken from children with OI show atypical flattened and large resoprtion lacunae as well as
abnormally elevated porosity. The low bone mass is likely the main contributor to the fractures and fragility associated with
OI. The increased cortical porosity contributes to the increased risk of long bone fractures. The genetic defect associated with
OI affects type I collagen, which is the main organic component of bone. This results in insufficient collagen production and
amino acid substitution defects within the collagen molecules. Bone material quality is also affected in OI. When type I
collagen is disrupted, the abnormalities that affect this protein causes decreased bone material quality. Often irregularities in
collagen, mineral geometry, and mineral composition are seen. Because bone mass and bone quality or strength are reduced in
children with OI the long bones and spine often exhibit deformities such as increased curvature, which leads to an increase in
maximum stress within the bone shaft. This perpetuates the cycle of fractures (Shaker et al., 2015).
OI can be diagnosed solely on clinical features. They are very distinct, but because the condition is rare many people
don’t recognize the cluster of symptoms and usually assume child abuse. Research will show you that this child is exhibiting
the classic manifestations of Type III OI. There are clinical geneticists that can perform biochemical or DNA tests that can
help confirm an OI diagnosis however it is a lengthy process and detects about 90 percent of type I collagen mutations so there
is a chance the test can be negative. If the test is negative it can mean the type I collagen mutation is present but was not
detected, the patient has a form of the disorder that is not associated with type I collagen mutations, or the patient has a
recessive form of OI. A negative result does not rule out OI. While the clinical manifestations vary greatly from person to
person, as a healthcare provider caring for children, it is important to be aware of diseases that mimic child abuse and have the
knowledge to be able to differentiate (NIH, 2015).
References
, 4
National Institute of Health. (2015). Osteogenesis Imperfecta Overview. Retrieved from
http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/overview_oi.pdf
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