CAJ | 학술논문

目的：研究Ⅰa型糖原累积症致继发性骨质疏松症家系及其分子遗传学背景。方法使用双能X射线骨密度仪检测先证者及其弟左前臂、左髋关节、腰椎的骨密度。抽取先证者及其父母全血，提取基因组DNA，通过多聚酶链反应扩增葡萄糖-6-磷酸酶5个外显子及与内含子交界区，采用DNA直接测序法确定突变部位。结果先证者及其弟腰椎及左髋部骨密度均低于同龄人，其弟左前臂骨密度低于同龄人。先证者G6PC基因第5号外显子存在c.648 G＞T纯合突变，其父母均存在c.648 G＞T杂合突变。结论Ⅰa型糖原累积症是导致成人继发性骨质疏松症的罕见病因。成人发生原因不明的骨质疏松，合并肝脏肿大、高脂血症、高尿酸血症和血乳酸水平明显增高时，应考虑糖原累积症。其导致骨质疏松的机制以及表型和基因型的关系有待进一步研究。
목적：연구Ⅰa형당원루적증치계발성골질소송증가계급기분자유전학배경。방법사용쌍능X사선골밀도의검측선증자급기제좌전비、좌관관절、요추적골밀도。추취선증자급기부모전혈，제취기인조DNA，통과다취매련반응확증포도당-6-린산매5개외현자급여내함자교계구，채용DNA직접측서법학정돌변부위。결과선증자급기제요추급좌관부골밀도균저우동령인，기제좌전비골밀도저우동령인。선증자G6PC기인제5호외현자존재c.648 G＞T순합돌변，기부모균존재c.648 G＞T잡합돌변。결론Ⅰa형당원루적증시도치성인계발성골질소송증적한견병인。성인발생원인불명적골질소송，합병간장종대、고지혈증、고뇨산혈증화혈유산수평명현증고시，응고필당원루적증。기도치골질소송적궤제이급표형화기인형적관계유대진일보연구。
Objective To investigate the molecular genetic background of a pedigree with glycogen storage dis -easeⅠa ( GSDⅠa) and focus on secondary osteoporosis caused by the disease .Methods The proband and her younger brother underwent bone mineral density (BMD) measurement by dual-energy X-ray absorptiometry (DEXA) for spine, left forearm and hip .DNA was extracted from the peripheral blood of the proband and her father and mother .All the five exons and the flanking introns of the glucose-6-phosphatase gene were amplified by polymerase chain reaction .Actual mu-tations were confirmed by direct sequencing .Results Spine BMD and left hip BMD of the patients were below the expec-ted range for age .Left forearm BMD of the proband's younger brother was below the expected range for age .The DNA-based analysis revealed that the proband was homozygous for the c.648G>T mutation.The proband's father, as well as her mother was heterozygous for the c.648G>T mutation.Conclusions GSDⅠa is an extremely rare cause of seconda-ry osteoporosis in adult.Adult who has unexplained osteoporosis , hepatomegaly, hyperlipemia, hyperuricemia and a marked increase of blood lactic acid concentration should be screened for GSD .The pathogenesis and the genotype-pheno-type correlation require further research .