Azemi Mehmedali, Berisha Majlinda, Ismaili-Jaha Vlora, Kolgeci Selim, Hoxha Rina, Grajçevci-Uka Violeta, Hoxha-Kamberi Teuta
Pediatric Clinic, University Clinical Center of Kosova, Prishtina, Kosovo.
Obstetrics and Gynecology Clinic, Department of Cytogenetics, University Clinical Center of Kosova, Prishtina, Kosovo.
Mater Sociomed. 2014 Feb;26(1):68-70. doi: 10.5455/msm.2014.26.68-70. Epub 2014 Feb 20.
The aim of this work the report of one case with vitamin D-dependent rickets, type II.
Diagnosis has been established based on anamnesis, physical examination, laboratory findings and radiological examination.
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.
Vitamin D-dependent rickets, type II is a rare genetic recessive disease, and its treatment includes a constant use of calcium and calcitriol.
本文旨在报告一例Ⅱ型维生素D依赖性佝偻病病例。
基于病史、体格检查、实验室检查结果及影像学检查做出诊断。
一名女童（25个月大）因骨骼畸形、骨痛、脱发及行走困难入院。实验室检查结果显示血钙值低（1.20mmol/L），血磷在参考值范围内（1.30mmol/L），碱性磷酸酶值相当高（852IU/L），甲状旁腺激素值高（9.21pmol/L），25-羟维生素D值正常，而1,25-二羟维生素D值高（185μmol/L）。桡骨和尺骨远端干骺端以及下肢骨骼（股骨远端干骺端及胫腓骨近端干骺端）的影像学改变明显且典型。经钙剂和骨化三醇治疗后，上述临床表现、实验室检查值及骨骼影像学改变均消失。
Ⅱ型维生素D依赖性佝偻病是一种罕见的常染色体隐性疾病，其治疗包括持续使用钙剂和骨化三醇。
