Bone diseases Flashcards

1
Q

What is Osteogenesis Imperfecta?

A

Group of autosomal dominant inherited connective tissue caused by mutations in the gene for type I collagen.

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2
Q

What can excessive levels of Growth hormone cause before puberty?

A

Gigantism through promotion of epiphyseal growth plate activity.

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3
Q

What can insufficient Growth hormone cause before puberty?

A

Pituitary dwarfism

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4
Q

What can excessive Growth hormone cause in adults?

A

Increases bone width by promoting periosteal growth (ACROMEGALY)

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5
Q

What do Sex hormones influence?

A

Development of ossification centres

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6
Q

How can Precocious sexual maturity develop?

A

Sex hormone producing tumours retard bone growth due to premature fusion of epiphyses

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7
Q

How can a deficiency in sex hormone cause tall stature?

A

Epiphyseal growth plates don’t fuse so prolonged bone growth

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8
Q

What can deficiency in thyroid hormone lead to?

A

Cretinism

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9
Q

What is Osteoporosis?

A

Metabolic bone disease in which mineralised bone is decreased in mass to the point it can no longer provide support.

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10
Q

What are the 2 types of Primary Osteoporosis?

A

Type I and II

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11
Q

What group of people does Type I Osteoporosis generally occur in?

A

Postmenopausal women

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12
Q

What group of people does type II Osteoporosis generally occur in?

A

Elderly people

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13
Q

What are the risk factors for osteoporosis?

A
Genetic
Lack of calcium or vitamin D
Immobilisation
Smoking
Age
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14
Q

What is Achondroplasia?

A

Common form of short limb dwarfism

Autosomal dominant point mutation in FGFR3

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15
Q

How can the body get vitamin D?

A

Dietary

Synthesised by the skin using IV light

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16
Q

What happens to vitamin D in the body?

A

Hydroxylation in the liver and further ones in the kidney leads to 1, 25 dihydroxyvitamin D3.

17
Q

What does dihydroxyvitamin D3 do?

A

Increases calcium absorption by the small bowel

Promotes mineralisation of bone

18
Q

What causes Rickets?

A

Lack of vitamin D so bones do not harden

19
Q

What are the effects of rickets?

A

Bones become soft and malformed

Distortion of the skull bone

20
Q

What is Osteomalacia?

A

Adult counterpart of rickets.

21
Q

What are symptoms of Osteomalacia?

A

Bone pain
Back ache
Muscle weakness

22
Q

What happens to the trabeculae of cancellous bone in Osteomalacia?

A

An abnormally large amount of non mineralised bone covering the surface so they’re weakened.