The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.

Clinical kidney journal(2023)

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摘要
We describe for the first time the genetic landscape of ADPKD in Kuwait. The observed genetic heterogeneity underlining ADPKD along with the wide phenotypic spectrum reveal the level of complexity in disease pathophysiology. ADPKD genetic testing could improve the care of patients through improved disease prognostication, guided treatment and genetic counselling. However, to fulfil the potential of genetic testing, it is important to overcome the hurdle of genetically unresolved ADPKD cases.
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关键词
IFT140,TSC2/PKD1 contiguous gene syndrome,eGFR,htTKV,polycystic kidney disease
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