Musculoskeletal - Pathoma Flashcards
(139 cards)
The driving etiology for achondroplasia is an ________expression of ________.
The driving etiology for achondroplasia is an overexpression of FGFR3.
True/False.
Most cases of achrondoplasia are sporadic and related to advanced paternal age.
True.
Identify which (if any) of the following are affected by achrondroplasia:
Mental function
Lifespan
Fertility
No effects on mental function, lifespan, or fertility
What are the three common features of osteogenesis imperfecta?
Multiple fractures (absent bruising can distinguish from child abuse)
Blue sclera (increased exposure of choroidal veins)
Hearing loss (easy fracture of middle ear bones)
Osteo_________ is a disorder of bone mineralization.
Osteo_________ is a disorder of bone mass.
Osteo_________ is a disorder of bone resorption.
Osteomalacia is a disorder of bone mineralization.
Osteoporosis is a disorder of bone mass.
Osteopetrosis is a disorder of bone resorption.
Osteopetrosis is a(n) _____________ (sporadic/inherited) defect of bone _____________ (formation/mineralization/resorption).
Osteopetrosis is an inherited defect of bone resorption.
What is the main result of the lack of bone resorption seen in osteopetrosis?
Abnormally thick, heavy bone which fractures easily
Osteopetrosis occurs due to poor ____________ function.
Osteopetrosis occurs due to poor osteoclast function.
Osteopetrosis often occurs due to a mutation in ________________, leading to a loss of the ________ microenvironment needed for bone resorption.
Osteopetrosis often occurs due to a mutation in carbonic anhydrase II, leading to a loss of the acidic microenvironment needed for bone resorption.
Name some of the major presenting S/Sy of osteopetrosis:
F______________
A______________, T______________, L______________
V______________ and H______________ impairment
H______________
R________________________
Name some of the major presenting S/Sy of osteopetrosis:
Fractures**
Anemia, **Thrombocytopenia, Leukocytopenia**
Visual** and Hearing** impairment
Hydrocephalus
Renal tubular acidosis(type 2)
Why is osteopetrosis associated with hydrocephalus?
Narrowing of the foramen magnum
Why is osteopetrosis associated with type 2 RTA?
Lack of carbonic anhydrase
(leading to decreased tubular HCO3- reabsorption)
What is the treatment for osteopetrosis?
Bone marrow transplant
(osteoclasts derive from monocytes)
A defect in mineralization of osteoid in children is called ___________.
A defect in mineralization of osteoid in adults is called ___________.
A defect in mineralization of osteoid in children is called Rickets.
A defect in mineralization of osteoid in adults is called osteomalacia.
Osteoblasts normally produce ________, which is then mineralized with calcium and phosphate to form bone.
Osteoblasts normally produce osteoid, which is then mineralized with calcium and phosphate to form bone.
Osteomalacia/Rickets results due to a lack of ________.
Osteomalacia/Rickets results due to a lack of vitamin D.
Vitamin D deficiency can lead to osteo_________.
Vitamin D deficiency can lead to osteomalacia.
Rickets most commonly arises in children of what age?
< 1 year
What are some of the S/Sy of Rickets?
Pigeon-breast deformity (inward bend of the ribs + sternal protrusion)
Frontal bossing (osteoid deposition in skull)
Rachitic rosary (osteoid deposition at costochondral junction)
Genu varum (in ambulating children)
What are some of the clinical S/Sy of osteomalacia in relation to the bones?
Weak bones;
pathologic fractures
What are some of the laboratory S/Sy of osteomalacia?
Decreased: calcium, phosphate
increased PTH, alkaline phosphate
Peak bone mass is achieved at ____ years of age and is based on genetics (___________ receptor variants), diet, and exercise.
Peak bone mass is achieved at 30 years of age and is based on genetics (vitamin D receptor variants), diet, and exercise.
After peaking at 30 years of age, ____% is typically lost each year.
After peaking at 30 years of age, 1 % is typically lost each year.
How can bone density be measured?
DEXA scanning