新型 CYP27B1 基因纯合突变导致维生素 D 依赖性佝偻病 1A 型（VDDR1A）：病例报告。
Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report.
机构信息
Endocrine Division, Department of Pediatrics, Taif Children Hospital, Taif, Saudi Arabia.
Radiology Division, King Abdulaziz Specialist Hospital, Taif, Saudi Arabia.
出版信息
Front Endocrinol (Lausanne). 2022 May 18;13:862022. doi: 10.3389/fendo.2022.862022. eCollection 2022.
BACKGROUND
Vitamin D-dependent rickets type 1A (VDDR1A) rickets is an uncommon kind of rickets that affects both boys and girls. Children with mutations are normal at birth and present at around 6 months to 2 years of age with symptoms. When suspected, genetic testing is required to confirm the diagnosis.
CASE PRESENTATION
This is a case report of VDDR1A in a 4-year-old boy who presented with delayed growth, inability to stand, and rachitic bone deformities. The diagnosis was reached by anthropometric measurement, bone profile, and radiological studies, then confirmed by genetic testing, which revealed a homozygous pathogenic variant in the CYP27B1 gene. He was treated with Vitamin-D (alfacalcidol) and oral calcium.
CONCLUSION
VDDR1A is caused by a mutation in the CYP27B1 gene, which impairs the 1 hydroxylase enzyme, which compromises vitamin-D production.
背景
维生素 D 依赖性佝偻病 1A 型（VDDR1A）佝偻病是一种罕见的佝偻病，可影响男孩和女孩。携带突变的儿童在出生时正常，大约在 6 个月至 2 岁时出现症状。怀疑时，需要进行基因检测以确认诊断。
病例介绍
这是一名 4 岁男孩 VDDR1A 的病例报告，该男孩表现为生长迟缓、无法站立和佝偻病性骨骼畸形。通过人体测量、骨骼轮廓和放射学研究进行诊断，然后通过基因检测确认，该检测显示 CYP27B1 基因的纯合致病性变异。他接受了维生素 D（骨化三醇）和口服钙的治疗。
结论
VDDR1A 是由 CYP27B1 基因突变引起的，该突变会损害 1 羟化酶，从而影响维生素 D 的产生。
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