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49 Cards in this Set

  • Front
  • Back
What is the suggested daily intake of vitamin D for healthy adults?
200 international units (IU)
What is the suggested daily intake of vitamin D for children, pregnant women, and lactating mothers?
400 IU
What is the only natural dietary source of vitamin D?
Oily fish
What is the serum calcium level with vitamin D deficiency?
Decreased (due to decreased absorption)
What is the resulting effect on PTH?
Increased (in response to low calcium)
What two clinical features of nutritional rickets are most sensitive and specific?
Wrist enlargement
Costochondral enlargement
What is the serum phosphate level?
Decreased (due to high PTH)
What does treatment of vitamin D deficiency rickets consist of?
5000 IU per day of vitamin D
Deficient calcium intake has what effect on PTH levels?
PTH levels become elevated
What effect does this have on vitamin D levels?
Increases vitamin D levels (attempt to absorb greater amounts of calcium, phosphate)
What are serum phosphate levels?
May actually be low (due to elevated PTH)
What is the treatment of calcium deficiency rickets?
750 mg/day of calcium
Deficient phosphate intake has what effect on PTH levels?
None (PTH responds only to high phosphate)
What effect does low serum phosphate have on vitamin D levels?
Increases vitamin D levels (attempt to absorb greater amounts of phosphate)
What is the treatment of phosphate deficiency rickets?
Oral phosphate supplementation
Inheritance?
Autosomal recessive (AR)
Mutation?
Defect in renal 1,25-hydroxylase
What is the effect of defective hydroxylase?
No conversion of inactive vitamin D to active form
What is the characteristic clinical feature?
Rachitic rosary responsive to vitamin D
What is the resulting serum calcium level?
Decreased
What is the resulting serum phosphate level?
Decreased (due to decreased absorption)
What is the resulting serum PTI-I level?
Elevated (in response to low calcium)
What is the treatment of vitamin D-dependent rickets (VDDR) type I?
Oral activated vitamin D
Defect?
No receptor for 1,25-vitamin D at target cells
What is the serum level of 1,25-vitamin D?
Very high
What is the serum level of active vitamin D in type I?
Very low in type
What are the two characteristic clinical features?
Alopecia
Rachitic rosary unresponsive to vitamin D therapy
What is the treatment of VDDR type II?
Vitamin D analogue
What is the relative severity of both types of vitamin D dependent rickets are more severe vs. nutritional rickets?
Vitamin D dependent rickets I and ll
What is the relative frequency of hypophosphatemic rickets as a cause States of rickets?
Most common cause in the United
What is the inheritance?
XLD
What is the mutation?
Impaired renal tubular absorption of phosphate
What is the gene?
PHEX
This disorder is also known as what?
Vitamin D resistant rickets
What is the serum phosphate level?
Low, because a lot of phosphate is lost in the urine
What is the resulting PTH level?
Normal (no PTH response to low serum phosphate)
What is the serum calcium level?
Normal
What is the classic triad of clinical features?
Short child
Lower limb deformities
Low serum phosphate
What are the two components of treatment of hypophosphatemic
rickets?
High-dose phosphate replacement
High-dose vitamin D (to facilitate phosphate absorption)
What is the inheritance?
AR
What is the defect?
Enzymatic deficiency leads to low levels of alkaline phosphate
Clinical features are similar to what group of disorders?
Nutritional rickets
How is hypophosphatasia diagnosed?
Elevated urinary . phosphoethanolamine
What is the treatment of hypophosphatasia?
No good options exist
High-turnover renal osteodystrophy displays clinical features similar to what other disorder?
Primary hyperparathyroidism (for example, osteitis Hbrosa cystica)
The renal osteodystrophy spine has what appearance?
Rugger jersey spine
This spine appearance is also associated with what other disorder?
Osteopetrosis
Hypophosphatasia displays clinical features similar to what other disorder?
Nutritional rickets
The spine has what appearance in hypophosphatasia?
Rachitic rosary (like rickets)