Abstract：
BACKGROUND: Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive disorder due to mutations in the CYP27B1 gene which result in inability to generate 1,25(OH)2D.
METHODS: An 18-month-old boy with VDDR1A presented with hypotonia and respiratory distress. He had been diagnosed 2 months earlier, having been evaluated for stunted growth, hypotonia, and delayed developmental milestones. He was stabilized with oxygen and bronchodilators for his bronchiolitis and high doses of alfacalcidol, calcium, and phosphate supplements for his hungry bone syndrome. Of note, the patient sustained upper limb fractures after a fall from his bed during admission. Overall, he had a protracted disease course; however, his bone profile gradually improved and he steadily recovered.
CONCLUSIONS: VDDR1A causes failure to thrive, hypotonia, and increased fracture risk and may complicate the clinical course of lower respiratory tract infections. Furthermore, management of hungry bone syndrome requires supraphysiologic doses of vitamin D metabolites and calcium.
METHODS: An 18-month-old boy with VDDR1A presented with hypotonia and respiratory distress. He had been diagnosed 2 months earlier, having been evaluated for stunted growth, hypotonia, and delayed developmental milestones. He was stabilized with oxygen and bronchodilators for his bronchiolitis and high doses of alfacalcidol, calcium, and phosphate supplements for his hungry bone syndrome. Of note, the patient sustained upper limb fractures after a fall from his bed during admission. Overall, he had a protracted disease course; however, his bone profile gradually improved and he steadily recovered.
CONCLUSIONS: VDDR1A causes failure to thrive, hypotonia, and increased fracture risk and may complicate the clinical course of lower respiratory tract infections. Furthermore, management of hungry bone syndrome requires supraphysiologic doses of vitamin D metabolites and calcium.
摘要：
背景：维生素D依赖性1A型病（VDDR1A）是一种常染色体隐性遗传疾病，由于CYP27B1基因突变导致无法产生1,25（OH）2D。
方法：一名患有VDDR1A的18个月大男孩表现为张力减退和呼吸窘迫。他2个月前被确诊,经过发育迟缓的评估，低张力,和延迟的发展里程碑。他的毛细支气管炎和高剂量阿法骨化醇被氧气和支气管扩张剂稳定，钙，和磷酸盐补充剂为他的饥饿骨骼综合症。值得注意的是，患者在入院期间从床上摔下来后，上肢骨折。总的来说,他的病程很长；然而，他的骨骼轮廓逐渐改善，并稳步康复。
结论：VDDR1A导致失败，低张力,增加骨折风险，并可能使下呼吸道感染的临床过程复杂化。此外，饥饿骨综合征的治疗需要超生理剂量的维生素D代谢物和钙。
方法：一名患有VDDR1A的18个月大男孩表现为张力减退和呼吸窘迫。他2个月前被确诊,经过发育迟缓的评估，低张力,和延迟的发展里程碑。他的毛细支气管炎和高剂量阿法骨化醇被氧气和支气管扩张剂稳定，钙，和磷酸盐补充剂为他的饥饿骨骼综合症。值得注意的是，患者在入院期间从床上摔下来后，上肢骨折。总的来说,他的病程很长；然而，他的骨骼轮廓逐渐改善，并稳步康复。
结论：VDDR1A导致失败，低张力,增加骨折风险，并可能使下呼吸道感染的临床过程复杂化。此外，饥饿骨综合征的治疗需要超生理剂量的维生素D代谢物和钙。
