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随着医学遗传学的研究进展,对一些原因不明的肾脏病的发病机理和诊断有不少新的认识。本文复习国内外资料,仅就与遗传相关的肾脏病的分类及临床研究略作概述。遗传性肾脏病的病因分类一、染色体性遗传病:(一) 常染色体显性遗传病:有遗传性肾炎(Alport综合征)或耳—眼—肾综合征、肾性糖尿病、Liddle综合征、假性甲状旁腺功能减低症伴多囊肾、肾小管性酸中毒、特发性高尿酸症。(二) 常染色体隐性遗传病:胱氯酸尿症、Hartnup病,肾性尿崩症、Lowe(眼—脑—肾)综合
With the progress of medical genetics, there are many new understandings on the pathogenesis and diagnosis of some unexplained kidney diseases. This review of information at home and abroad, only with the classification of genetically related kidney disease and clinical research a brief overview. Hereditary kidney disease etiology classification First, chromosomal genetic disease: (a) autosomal dominant genetic disease: hereditary nephritis (Alport syndrome) or ear - eye - kidney syndrome, renal diabetes, Liddle syndrome, Pseudo-hypoparathyroidism with polycystic kidney disease, renal tubular acidosis, idiopathic hyperuricaemia. (B) autosomal recessive disease: cystaturine, Hartnup disease, nephrogenic diabetes insipidus, Lowe (eye - brain - kidney) synthesis