PKD1 and cystic kidney disease: The diagnosis of AS of this child was based on hematuria, hearing loss, positive family history, and a pathogenic variant, while the diagnosis of ADPKD was mainly based on clinical information, as genetic testing only found a VUS in PKD1. Other reported cases had the same experience: patients were consulted for hematuria or renal cysts, with a positive family history, and NGS helped confirm the coexistence of PKD and AS.