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Old 09-08-2012
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Arrow Gyrus Daily Questions; Pediatrics #28

An 8-month-old Caucasian male is brought into your pediatric clinic for a routine check up. Upon examination you note severely bowed legs and flaring of both wrists. Feeding history reveals he is formula fed and receives a daily multivitamin supplement. Laboratory results demonstrate the following: high 25(OH)2D, low 1,25(OH)2D, low calcium, and normal phosphorous. What diagnosis is most consistent with these findings?

(A) vitamin D refractory rickets type I
(B) hypophosphatemic rickets
(C) vitamin D deficiency rickets
(D) 22q11 deletion syndrome
(E) cystic fibrosis
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Old 09-08-2012
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(A) vitamin D refractory rickets type I
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Answer A

(A) Vitamin D refractory rickets type I is a rare cause of rickets. It results from impaired1-hydroxylation of 25(OH)2D to 1,25(OH)2D
(the active form of vitamin D) and causes low calcium levels in the face of normal vitamin D intake and absorption. Phosphate levels may be normal or slightly decreased in this disorder. Levels of 25(OH)2D are usually normal or elevated while 1,25(OH)2D levels are low.

Hypophosphatemic rickets is characterized by low serum phosphate caused by abnormal renal phosphate loss. It is an X-linked autosomal dominant disorder.

Vitamin D deficiency rickets results from poor absorption and/or poor intake of vitamin D. Both forms of vitamin D would be low in such children. Dark-skinned, breastfed individuals born in the winter are at particular risk for vitamin D deficiency rickets. Breast milk is known to have insufficient vitamin D; and supplementing breastfed children is recommended. Sunlight exposure causes production of vitamin D in the skin. Therefore inadequate exposure to light may compound this problem. Children with cystic fibrosis may also have vitamin D deficiency rickets caused by poor vitamin D absorption due to pancreatic insufficiency. Finally, children with 22q11 deletion syndrome may have hypocalcemia, but this is typically due to the congenital absence of parathyroid glands. Vitamin D levels are normal


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Old 09-09-2012
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Rickets is a difficult topic for me to understand...

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Old 09-09-2012
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Hypophosphatemia

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