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Case Report



Vitamin D - Dependent Rickets, Type II Case Report

Mehmedali Azemi, Majlinda Berisha, Vlora Ismaili-Jaha, Selim Kolgeci, Rina Hoxha, Violeta Grajçevci-Uka, Teuta Hoxha-Kamberi.




Abstract

Aim: The aim of this work the report of one case with vitamin D-dependent rickets, type II. Methods: Diagnosis has been established based on anamnesis, physical examination, laboratory findings and radiological examination. Results: A female child (age 25 months) has been hospitalized due to bone deformity, bone pain, alopecia and walking difficulties. The laboratory findings have revealed that the calcium values was low (1.20 mmol/L), phosphates in the reference value (1.30 mmol/L) the alkaline phosphatase value was quite high (852 IU/L), high value of parathyroid hormone (9.21 pmol/L), normal value of 25- hydroxyvitamin D, whereas the values of 1,25-dihydroxyvitamin D was high (185 μmol/L). Radiographic changes were evident and typical in the distal metaphysis of radius and ulna as well as in the bones of lower limbs (distal metaphysis of femur and proximal metaphysis of tibia and fibula). After treatment with calcium and calcitriol, the above mentioned clinical manifestations, laboratory test values and the radiographic changes in bones withdrew. Conclusions: Vitamin D-dependent rickets, type II is a rare genetic recessive disease, and its treatment includes a constant use of calcium and calcitriol.

Key words: Vitamin D receptor, 1,25- dihydroxyvitamin D, Bone, Alopecia, Calcium intravenous.






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