Congenital and metabolic bone disorders Flashcards

1
Q

Inheritance of achondroplasia

A

Autosomal dominant

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2
Q

Mutation in achondroplasia

A

FGFR3 on chromosome 4, inhibits endochondral growth

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3
Q

Narrow and disorganizes zones of proliferation and hypertrophy of bone

A

Achondroplasia

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4
Q

Laron dwarfism

A

Pituitary dysfunction or secondary to a mutation in growth hormone receptor

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5
Q

Inheritance of osteogenesis imperfecta

A

Autosomal dominant

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6
Q

Deficiencies in type I collagen synthesis related to defects in EC structural proteins

A

Osteogenesis imperfecta

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7
Q

Mutation in osteogenesis imperfecta

A

COL1A1 and COL1A2 genes encoding alpha-1 and -2 chains of type 1 collagen due to replacement of glycine

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8
Q

Group of rare genetic disorders characterized by reduced bone resorption due to deficient osteoclast development or function

A

Osteopetrosis

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9
Q

Mutations and inheritance associated with osteopetrosis

A

TCIRG1 –> AR
CLCN7 –> AD
CA-II –> AR

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10
Q

Normal function of TCIRG1

A

Makes an osteoclast proton pump

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11
Q

Normal function of CLCN7

A

Osteoclast chloride channel

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12
Q

Albers-Schonberg disease

A

Osteopetrosis caused by CLCN7 mutation

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13
Q

Normal function of CA-II

A

Generates protons and facilitates the resorption pit acidification by osteoclasts

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14
Q

Deposited bone tends to woven instead of lamellar

A

Osteopetrosis

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15
Q

Inheritance of infantile osteopetrosis

A

Autosomal recessive

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16
Q

Inheritance of adult osteopetrosis

A

Autosomal dominant

17
Q

Treatment for osteopetrosis

A

Hematopoietic stem cell transplantation –> osteoclasts are derived from

18
Q

Radiologic features of osteopetrosis

A

Lack of medullary canal with misshapen ends of long bones

19
Q

Histologically normal bone that is decreased in quantity

A

Osteoporosis

20
Q

Three phases of Paget disease

A

Initial osteolytic stage
Mixed osteoclastic-osteoblastic stage
Burned-out quiescent osteosclerotic stage

21
Q

Marked by increased, but disordered and structurally unsound bone mass

A

Paget disease or osteitis deformans

22
Q

Haphazardly oriented lamellae are joined by a prominent cement line

A

Paget disease

23
Q

Mutation in Paget disease

A

SQSTM1 resulting in increased NFkB activity

24
Q

Platybasia

A

Flattening of base of skull causing impingement in Paget disease

25
Increased alkaline phosphatase and urinary excretion of hydroxyproline with normal Ca, phosphorous, and PTH
Paget disease
26
Complications of Paget disease
Osteosarcoma or fibrosarcoma High output heart failure
27
3 skeletal abnormalities associated with hyperparathyroidism
Osteoporosis Brown tumors Osteitis fibrosa cystica
28
Secondary hemorrhage, macrophage recruitment, and ingrowth of reparative fibrous tissue that creates a mass lesion
Brown tumor
29
Combination of increased bone cell activity, peritrabecular fibrosis, and cystic brown tumors
Generalized osteitis fibrosa cystic or von Recklinghausen disease of bone
30
Clinical features of hyperparathyroidism
Stones - kidney stones Bones - skeletal changes Moans - depression Groans - GI irregularities
31
Manifestations of renal osteodystorphy
Osteopenia/porosis Osteomalacia Secondary hyperparathyroidism Growth retardation
32
3 mechanisms through which kidney disease causes skeletal abnormalities
Tubular dysfunction Secondary hyperparathyroidism Decreased biosynthetic function (vit D)
33
Normal Ca, phosphate, alkaline phosphatase and PTH
Osteoporosis
34
Normal or decreased CA, normal PTH and phosphate, increased alkaline phosphatase
Paget disease
35
Decreased Ca and phosphate, increased alkaline phosphatase and PTH
Osteomalacia or Rickets
36
Increased Ca, alkaline phosphatase, and PTH. Decreased phosphate
Osteitis fibrosa cystica in primary hyperparathyroidism
37
Decreased Ca. Increased phosphate, alkaline phosphatase, and PTH.
Secondary hyperparathyroidism in CKD
38