Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease
Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease
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DOI：
10.1016/j.ekir.2019.08.012
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发表时间：
2019-12-01
影响因子：
6
通讯作者：
Sayer, John A.
中科院分区：
文献类型：
--
作者：
Al Alawi, Intisar;Al Salmi, Issa;Sayer, John A.
慢性肾脏病（CKD）是指肾脏结构或功能异常，持续时间超过3个月，对健康有影响。遗传性肾病是CKD的主要原因，并且通常导致进展性CKD，从而导致终末期肾病（ESRD）。囊性肾病是儿童和成人ESRD的常见遗传性原因，占病例的6%-12%。S1，S2遗传性囊性肾与初级纤毛功能障碍有关。S3这些疾病通常被称为肾纤毛病，并且是越来越多的遗传性疾病的一部分，包括常染色体显性多囊肾病（ADPKD）、常染色体隐性多囊肾病（ARPKD）、S4结节性硬化症综合征（TSC）、S5常染色体显性肾小管间质性肾病（ADTKD）、S6肾单位结石相关纤毛病（NPHP-RC）、S7 Bardet-Biedl综合征、Senior-Löken综合征、Meckel Gruber综合征、Joubert综合征及其他。S8
Chronic kidney disease (CKD) is defined as abnormalities in the structure or function of the kidney that are present for more than 3 months and have implications for health. Inherited kidney diseases are a major cause of CKD and often lead to progressive CKD resulting in end-stage renal disease (ESRD). Cystic kidney diseases are common inherited causes of ESRD in both children and adults, accounting for 6%–12% of cases. S1, S2Inherited forms of cystic kidney have been associated with dysfunction of the primary cilia. S3 These diseases are often termed renal ciliopathies and are part of a growing number of inherited diseases that include autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), S4 tuberous sclerosis complex (TSC), S5 autosomal dominant tubulointerstitial kidney disease (ADTKD), S6 nephronophthisis-related ciliopathies (NPHP-RC), S7 Bardet-Biedl syndrome, Senior-Löken syndrome, Meckel Gruber syndrome, Joubert syndrome, and others. S8