Bakhtawar Farooq

Introduction and importance: Chronic kidney disease (CKD) is recognized as one of the leading causes of human death. This case highlights the importance of whole-exome sequencing (WES) and genetic diagnosis in families. Case Presentation: A 4-year-old girl (subject) was diagnosed with CKD along with her father, grandfather, and grandmother. The subject was first evaluated at 4 years of age because of black urine problem. On early diagnosis, it was kidney stones. She was suspected to be affected with kidney disorder by ultrasound and is being evaluated for the presence genetic variations by WES. We identified a missense variation in GRHPR gene c.494 G>A in subject, and her 27-year-old father was also identified with the same variation in the GRHPR gene. On follow-up, kidney stones were removed via extracorporeal shock wave lithotripsy (ESWL). Following ESWL sections, the subject was stable and sent home. Clinical discussion: Genetic diagnoses are essential for identifying diseases, which aid in early diagnosis and control to spread within families. This case highlights the value of advanced genetic testing in nephrology for precision diagnosis and family risk assessment. Conclusion: A multidisciplinary approach and timely intervention in CKD are vital to prevent complications in families.