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低血磷抗维生素D性佝偻病(Vitamin D resis-tant rickets)比较罕见,但往往被误诊为维生素D缺乏性佝偻病而延误治疗,现报告一个家系。病例摘要患儿,女,1.5岁,因双下肢进行性弯曲就诊。患儿足月顺产,出生体重2900克,无畸形,9个月出牙,14个月会走。出生7个月发现枕秃、易烦燥、多汗、双下肢略见弯曲,当地医生按维生素D缺乏性佝偻病治疗;肌注维生素D_240万单位,隔两周1次.连用3次,同时口服钙片每日6片,连服1个月停药后未复查。半年后因患儿下肢弯曲进行性加重而再次就医,又肌注维生素D_240万单位,连用2次.停药后3个月因下肢弯曲仍在加重而来我院诊治.
Hypophosphatemic Vitamin D resis- tant rickets are rare, but are often delayed by misdiagnosed as vitamin D-deficient rickets, and a pedigree is reported. Case Summary Children, female, 1.5 years old, had bilateral flexion due to lower limbs. Children with full term delivery, birth weight 2900 grams, no deformity, 9 months teeth, 14 months will go. Seven months after birth, she was found to be bald, easy to get irritated and hyperhidrosis, his lower extremity slightly bent, and local doctors were treated with vitamin D deficiency rickets. Muscular injection of vitamin D_240 million units was given every two weeks for 3 times, Calcium 6 tablets daily, even for 1 month without stopping after re-examination. Half a year later because of lower extremity flexion and aggravating the patient again to seek medical treatment, and intramuscular injection of vitamin D_240 million units, once every two months. 3 months after stopping due to lower extremity bending is still aggravating our hospital.