Renal Medicine 1 Genetic kidney diseases

Article

关键词: BARDET-BIEDL-SYNDROME;    INHERITED HYPOKALEMIC ALKALOSIS;    RESISTANT NEPHROTIC SYNDROME;    CHAPERONIN-LIKE PROTEIN;    BARTTERS-SYNDROME;    JOUBERT-SYNDROME;    MOLECULAR-GENETICS;    POSITIONAL CLONING;    BLEBBED PHENOTYPE;    DOMAIN PROTEIN;   

DOI  :  10.1016/S0140-6736(10)60236-X

来源: SCIE

【 摘 要 】

Knowledge of the primary cause of a disease is essential for elucidation of its mechanisms, and for adequate classification, prognosis, and treatment. Recently, the causes of many kidney diseases have been shown to be single-gene defects eg, steroid-resistant nephrotic syndrome, which is caused by podocin mutations in about 25% of children and nearly 15% of adults with the disease. Knowledge of a disease-causing mutation in a single-gene disorder represents one of the most robust diagnostic examples of personalised medicine because the mutation conveys an almost 100% risk of developing the disease by a defined age. Whereas single-gene diseases are rare disorders, polygenic risk alleles arise in common adult-onset diseases. In this Review, I will discuss prominent renal single-gene kidney disorders, and polygenic risk alleles of common disorders. I delineate how emerging techniques of total exome capture and large-scale sequencing will assist molecular genetic diagnosis, prognosis, and specific treatment, and lead to an improved elucidation of disease mechanisms, thus enabling development of new targeted drugs.

【 授权许可】

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