【摘要】 遗传代谢病(IMD)是由于维持机体正常代谢所必需的某种酶、运载蛋白、膜或受体等的编码基因发生突变,使其编码的产物功能发生改变,而出现相应的病理和临床症状的一类疾病。遗传代谢病肾脏损害包括两大类：一类为原发病本身累及肾脏,有相关肾脏表现,包括甲基丙二酸血症、钴胺素缺陷、糖原贮积症、Fanconi-Bickel综合征、线粒体病、先天性糖基化障碍、尿酸和嘌呤代谢和转运异常、Fabry病、遗传性酪氨酸血症、卵磷脂胆固醇酰基转移酶缺乏症、赖氨酸尿蛋白耐受不良等；另一类为原发病本身不累及肾脏,但相关代谢产物在肾脏排泄或蓄积,引起继发肾脏损害和相关表现,包括家族性淀粉样变、α1抗胰蛋白酶缺乏症、Alagille综合征、遗传性卵磷脂胆固醇脂肪酰转移酶缺乏症、脂蛋白肾病、家族性青少年巨细胞性贫血、线粒体肌病等。遗传代谢病肾脏损害临床表现多种多样且无特异性,部分以肾脏受累为首发或突出症状,诊断难度极大,但早期诊断、针对原发病进行干预和治疗,可防止或减轻肾脏损害程度和几率。因此,本文综述了有肾脏损害的儿童常见遗传代谢病,旨在提高儿科临床医师对该类疾病的认识,从而尽可能的早期诊断、早期治疗、改善肾脏预后。更多还原

【Abstract】 Genetic metabolic disorder(IMD) is a kind of disease in which the function of the encoded product is changed due to the mutation of the coding gene of certain enzyme, carrier protein, membrane or receptor, which is necessary to maintain normal metabolism of the body, resulting in corresponding pathological and clinical symptoms. Renal damage in genetic metabolic disorders includes two major categories: One is that the primary disease itself involves the kidney and has related renal manifestations, including methylmalonic acidemia,cobalamin deficiency, glycogen storage disease, Fanconi-Bickel syndrome, mitochondrial disease, congenital glycosylation disorder, uric acid and purine metabolism and transport abnormalities, Fabry disease, hereditary tyrosinemia, lecithin-cholesterol acyltransferase deficiency, lysinuric protein intolerance, etc. The other is that the primary disease itself does not involve the kidney, but the related metabolites are excreted or accumulated in the kidney, causing secondary renal damage and related manifestations, including familial amyloidosis, α1 antitrypsin deficiency, Alagille syndrome, hereditary lecithin cholesterol fatty acyltransferase deficiency, lipoprotein nephropathy, familial juvenile megaloblastic anemia, mitochondrial myopathy, and other genetic metabolic disease. The clinical manifestations of renal damage are diverse and non-specific, and some of them have renal involvement as the first or prominent symptom, which makes the diagnosis extremely difficult. However, early diagnosis, intervention and treatment for the primary disease can prevent or reduce the extent and chance of renal damage. Therefore, this paper reviews the common genetic metabolic diseases in children with kidney damage,aiming to improve the understanding of pediatric clinicians on these diseases, so as to make early diagnosis, early treatment and improve the renal prognosis as much as possible.更多还原