PDF(Pubmed)
Abstract：
Vitamin D-dependent rickets (VDDR) type 1A is a rare autosomal recessive disorder caused by cytochrome P450 family 27 subfamily B member 1 (CYP27B1) mutations and can lead to deficiencies in 1α-hydroxylase activity. The present study describes the case of a 39-year-old male patient who presented with rickets and deformities of limbs. Blood biochemical analysis revealed hypocalcemia and high serum parathyroid hormone (PTH) levels. Whole-exome Sanger sequencing using peripheral venous blood of this patient and his parents revealed exon1 c.182T>C, a novel mutation. Through physical examination, laboratory tests, imaging including lower limbs and lumbar spine X-ray and pelvis CT scan, and genetic testing, the patient was diagnosed with VDDR-1A. Following 1 month of treatment with 0.5 µg 1,25-dihydroxy-vitamin D3 twice daily and 0.6 g calcium carbonate once daily, follow-up examinations revealed that the patient\'s PTH and serum calcium levels had returned to normal. As the patient was diagnosed in his adulthood and missed the optimal treatment period, he developed irreversible deformities. If VDDR-1A can be diagnosed during infancy and childhood, skeletal deformities may be prevented. Therefore, the present report supports the proposal of early genetic sequencing in children with calcium deficiencies for the early diagnosis of rare diseases such as VDDR-1A, -1B and -2A and hereditary hypophosphatemic rickets. Since VDDR-1A diagnosed in adults is rare, the present case may provide clinicians with further insights into the characteristics of this rare disease.
摘要：
维生素D依赖性病（VDDR）1A型是一种罕见的常染色体隐性遗传疾病，由细胞色素P450家族27亚家族B成员1（CYP27B1）突变引起，可导致1α-羟化酶活性缺乏。本研究描述了一名39岁的男性患者的情况，该患者表现为病和四肢畸形。血液生化分析显示低钙血症和高血清甲状旁腺激素（PTH）水平。使用该患者及其父母的外周静脉血进行的全外显子Sanger测序显示exon1c.182T>C，一个新的突变.通过体检,实验室测试,影像学包括下肢和腰椎X线和骨盆CT扫描，和基因检测,患者被诊断为VDDR-1A。每天两次用0.5µg1,25-二羟基维生素D3和每天一次0.6g碳酸钙治疗1个月后，随访检查显示，患者的PTH和血清钙水平已恢复正常。由于患者在成年后被诊断出并错过了最佳治疗期，他出现了不可逆转的畸形。如果VDDR-1A可以在婴儿期和儿童期诊断，骨骼畸形可以预防。因此,本报告支持对缺钙儿童进行早期基因测序，以早期诊断VDDR-1A等罕见疾病，-1B和-2A和遗传性低磷酸盐血症。由于VDDR-1A在成人中被诊断为罕见，本病例可能为临床医生进一步了解这种罕见疾病的特征。
