Osteomalacia and Rickets Flashcards

1
Q

What is osteomalacia?

A

Disorder of adults characterized by inadequate mineralization of new formed bone matrix

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2
Q

What are rickets?

A

Disorder of children characterized by inadequate mineraliztaion of newly formed bone matrix and open growth plates

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3
Q

What is the key determinant of formation of 1,25(OH)2D?

A

Blood calcium concentration

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4
Q

Three causes of hypovitaminosis D?

A
  1. Inadequate sunlight exposure
  2. Deficient dietary intake
  3. Defective intesttinal absorption
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5
Q

What are the two causes of rickets?

A

Dietary Vit D deficiency and inadequate sun exposure

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6
Q

Most frequent causes of osteomalacia in the US?

A

Intrinsic diseases of the small intestine, cholestatic disorders of the liver, biliary obstruction and chronic pancreatic insufficency

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7
Q

What is the underlying pathology in Vit D-dependent rickets type I?

A

Inherited deficiency in renal 1Alpha-hydroxylase

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8
Q

What is the underlying pathology in Vit D-dependent rickets type II?

A

Mutation of the vit D receptor so end organs are insensitive to vit D

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9
Q

What is the underlying pathology that leads to osteomalacia in renal disorders?

A

Impaired reabsorption of phosphate by the proximal renal tubules resuling in hypophosphatemia

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10
Q

What is the cause of vitamin D-resistant rickets?

A

Mutation in the PHEX gene on the X chromosome impairing transport of phosphate across the luminal membrane of PCT of the kidney

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11
Q

What histologic finding is often found in patient with X-linked hypophosphatemia?

A

Halos - hypomineralized areas surrounding osteocytes

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12
Q

How can Fanconi Syndrome lead to osteomalacia and rickets?

A

Inability to reabsorb phosphate and inability to mineralize

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13
Q

How can cancer cause osteomalacia?

A

Tumors secrete phosphatonins causing renal tubular phosphate wasting resulting in osteomalacia

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14
Q

What is the name of pseudofractures found in osteomalacia?

A

Milkman-Looser Syndrome

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15
Q

What is the microscopic finding resulting from defective mineralization in osteomalacia?

A

Exaggeration of osteoid seams in thickness and proportion of trabecular surface coverage

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16
Q

A patient has Pectus carinatum, rachitic rosary and potbelly. Dx?

A

Rickets