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Abstract
Objective:
Vitamin D is essential for bone development and health, and deficiency resulting in rickets and skeletal deformities is seen mainly during rapid growth. Hereditary vitamin D dependent rickets type I and type II rickets is a very rare form of rickets, characterized by 1-alpha-hydroxylase deficiency or end-organ resistance to vitamin D. We aimed to investigate, clinical and laboratory characteristics of eight cases with Vitamin D-dependent rickets (VDRR).
Method:
The mean age of patients during diagnosis was 2.6 years. Excluding one patient, others were males (87.5%).
Results:
Mean laboratory values during referral was calcium 7.5±1,5 mg/dl, phosphorus 4±1.2 mg/dl, alkaline phosphatase (ALP) 1679±641 U/L and parathyroid hormone (PTH) 524±498 pg/ml. Patients received 1.2 µg/kg/day calcitriol. During follow-ups serum ALP and PTH values of patients turned to normal levels.
Conclusion:
In rickets, cases with persistent increased serum ALP and PTH levels it will be appropriate to investigate serum 25 (OH) D levels in cases diagnosed with vitamin D-dependent rickets even though hypocalcaemia is absent. Administration of adequate doses of calcitriol in some cases is able to clinical and laboratory values return to normal.
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Article Type: Original Article
EUR J GEN MED, Volume 13, Issue 1, January 2016, 16-20
https://doi.org/10.15197/ejgm.01464
Publication date: 16 Jan 2016
Article Views: 1610
Article Downloads: 2016
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