Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait.

ABSTRACT:

Background

Autosomal recessive polycystic kidney disease (ARPKD), a rare genetic disorder characterized by kidney cysts, shows complex clinical and genetic heterogeneity. This study aimed to explore the genetic landscape of ARPKD in Kuwait and examine the intricate relationship between its genes and clinical presentation to enhance our understanding and contribute towards more efficient management strategies for ARPKD.

Methods

This study recruited 60 individuals with suspected ARPKD from 44 different families in Kuwait. The participants were of different ethnicities and aged 0-70 years. Additionally, 33 were male, 15 were female, and 12 had indeterminant sex due to congenital anomalies. Comprehensive clinical data were collected. Mutations were identified by next-generation

SUBMITTER: Alhaddad ME 

PROVIDER: S-EPMC11282974 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature