CAJ | 학술논문

黏多糖病(mucopolysaccharidoses,MPSs)是一组进行性、累及多系统的遗传性代谢病.细胞内酶缺陷会造成黏多糖分解障碍而积聚体内并自尿中排出.由于MPS呈进行性发展,因而尽早的诊断和治疗有其重要意义.MPS的实验室诊断一般包括尿液黏多糖的检测以及细胞内的各种溶酶体酶的活性的测定.串联质谱技术已用于检测外周血滤纸片(dried blood spot,DBS)中多种溶酶体酶活性,DBS法具有标本易于采集、便于储存和运输、可同时检测多种酶活性等优点,在新生儿遗传代谢病筛查中有其应用优势.分子方法可检测已知的致病基因、发现新的突变序列,目前其在遗传咨询及产前诊断等应用越来越引起重视.该文通过对MPS的临床分型、尿液、酶学、质谱以及分子检测方法及其最新进展进行综述,以期对国内外MPS实验诊断获得系统的认识.
점다당병(mucopolysaccharidoses,MPSs)시일조진행성、루급다계통적유전성대사병.세포내매결함회조성점다당분해장애이적취체내병자뇨중배출.유우MPS정진행성발전,인이진조적진단화치료유기중요의의.MPS적실험실진단일반포괄뇨액점다당적검측이급세포내적각충용매체매적활성적측정.천련질보기술이용우검측외주혈려지편(dried blood spot,DBS)중다충용매체매활성,DBS법구유표본역우채집、편우저존화운수、가동시검측다충매활성등우점,재신생인유전대사병사사중유기응용우세.분자방법가검측이지적치병기인、발현신적돌변서렬,목전기재유전자순급산전진단등응용월래월인기중시.해문통과대MPS적림상분형、뇨액、매학、질보이급분자검측방법급기최신진전진행종술,이기대국내외MPS실험진단획득계통적인식.
Mucopolysaccharidoses (MPSs) are a group of inherited,progressive lysosomal storage disorders that are characterized by abnormalities in multiple organ systems.The glycosaminoglycan (GAG) accumulation is caused by the deficiency of a corresponding lysosomal enzyme.MPS often present diagnostic and treatment challenges,as early disease manifestations can be subtle.The diagnosis of MPS is based on laboratory results from urinary GAG analyses and enzyme activity assays.DBS-based assays,suitable for high-throughput multiplex newborn screening detected by electrospray tandem mass spectrometry,prove to be of high accuracy and precision.Molecular testing includes detection of the known disease-causing mutations,in addition to identifying abnormal sequences.It is believed to be of great importance in providing useful information for genetic counseling and prenatal diagnosis.In this overview,we summarize the diagnosis of MPS and have a brief review of clinical laboratory technologies.