Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study

• Main Authors: Malak Alghamdi (Author), Khalid A. Alhasan (Author), Areej Taha Elawad (Author), Suha Salim (Author), Marwa Abdelhakim (Author), Marwan Nashabat (Author), Rupesh Raina (Author), Jameela Kari (Author), Majid Alfadhel (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which resulted from pathogenic variants in the SLC3A1 and/or SLC7A9 genes. Among nephrolithiasis diseases, cystinuria is potentially treatable, and fur...