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Vitamin D deficiency rickets mimicking pseudohypoparathyroidism
Leyla Akın1, Selim Kurtoğlu, Aysel Yıldız
1Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey. leylabakin@gmail.com
Journal of Clinical Research in Pediatric Endocrinology
|January 29, 2011
Summary
Vitamin D deficiency rickets (VDDR) can mimic pseudohypoparathyroidism type 2. Early diagnosis and treatment with vitamin D and calcium are crucial for recovery in infants.
Area of Science:
- Pediatrics
- Endocrinology
- Biochemistry
Background:
- Vitamin D deficiency rickets (VDDR) presents with specific biochemical markers including elevated alkaline phosphatase and low 25-hydroxyvitamin D.
- Pseudohypoparathyroidism (PHP) type 2 is an inherited disorder characterized by resistance to parathyroid hormone.
Observation:
- An infant diagnosed with VDDR exhibited biochemical features mimicking PHP type 2, including hypocalcemia and hyperphosphatemia.
- The infant had a history of febrile convulsions treated with phenobarbital, a potential contributing factor to vitamin D deficiency.
Findings:
- The patient's condition, initially resembling PHP type 2, showed a positive response to vitamin D and oral calcium supplementation.
- Treatment led to the normalization of serum calcium, phosphorus, alkaline phosphatase, and parathyroid hormone levels.
Implications:
- This case highlights the importance of considering VDDR in the differential diagnosis of conditions presenting like PHP type 2.
- Prompt diagnosis and appropriate treatment of VDDR are essential for favorable outcomes in affected infants, even when complicated by factors like antiepileptic drug use.
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