CAJ | 학술논문

Citrin蛋白缺乏症是近年阐明病因的一类常染色体隐性遗传病,包括两种疾病:成年发作Ⅱ型瓜氨酸血症(adult-onset type Ⅱ citmllinaemia,CTLN2)和citrin蛋白缺乏所致新生儿肝内胆汁淤积症(neonatal intrahepatic cholestasis caused by citrin deficiency,NICCD).Citrin蛋白缺乏症致病基因SLC25A13位于染色体7q21.3,编码的蛋白命名为citrin蛋白,是一种肝型线粒体钙结合天冬氨酸/谷氨酸载体.SLC25A13异常引起citrin蛋白缺乏症,已发现点突变、缺失等多种异常,呈种族差异.日本该病例较多,中国、韩国、越南、美国及捷克等国也有该病例报道,尤其在中国南方该突变基因携带者频率较高.本文就该病发现史、citrin蛋白结构与功能、citrin蛋白缺乏症临床与实验室表现等方面作一综述.
Citrin단백결핍증시근년천명병인적일류상염색체은성유전병,포괄량충질병:성년발작Ⅱ형과안산혈증(adult-onset type Ⅱ citmllinaemia,CTLN2)화citrin단백결핍소치신생인간내담즙어적증(neonatal intrahepatic cholestasis caused by citrin deficiency,NICCD).Citrin단백결핍증치병기인SLC25A13위우염색체7q21.3,편마적단백명명위citrin단백,시일충간형선립체개결합천동안산/곡안산재체.SLC25A13이상인기citrin단백결핍증,이발현점돌변、결실등다충이상,정충족차이.일본해병례교다,중국、한국、월남、미국급첩극등국야유해병례보도,우기재중국남방해돌변기인휴대자빈솔교고.본문취해병발현사、citrin단백결구여공능、citrin단백결핍증림상여실험실표현등방면작일종술.
Citrin deficiency is a group of autosomal recessive genetic disorder including adult-onset type Ⅱ citrullinaemia (CTLN2) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).The gene SLC25A13 related to citrin deficiency is located on chromosome 7q21.3,which encodes a protein named citrin with function of liver aspartate/glutamate carrier.Mutations in SLC25A13 such as point mutation or deletion lead to citrin deficiency which appears racial differences.Many cases of citrin deficiency have been found in Japan.In other countries including China,Korea,Vietnam,United States and Czech,citrin deficiencies are also identified.In southern part of China there is a special high mutation carrier frequency.This review is about the discovery history of citrin deficiency,the structure and function of citrin,the symptoms and progresses in diagnosis methods of citrin deficiency.