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

Hamad AliMedhat NaimSarah R SenumAli AlSahowYousif BahbahaniMohamed Abu-FarhaJehad AbubakerAnwar MohammadAdel Al-HunayanAkram M AsbeutahMohamed ZayedSriraman DevarajanNaser HussainSumi Elsa JohnArshad ChannanathThangavel Alphonse ThanarajMohammad Al-AliMustafa AlMousawiFahd Al-MullaPeter C Harris

Published in: Clinical kidney journal (2022)

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.

Keyphrases

polycystic kidney disease
genome wide
single cell
end stage renal disease
copy number
chronic kidney disease
healthcare
newly diagnosed
ejection fraction
dna methylation
peritoneal dialysis
quality improvement
gene expression
chronic pain
human immunodeficiency virus