Abstract
OBJECTIVE: This study aimed to evaluate the kidney and urinary abnormalities in children diagnosed with Sanjad-Sakati syndrome (SSS). METHODS: This was a retrospective, descriptive hospital-based study performed at the Child Health Department, Sultan Qaboos University Hospital, Oman. The study included all pediatric patients up to the age of 15 years who presented with clinically and/or genetically confirmed SSS from January 2006 to December 2020. RESULTS: Fifteen patients were enrolled in the study. Hypercalciuria was present in 15 (100%) patients. The majority of children were observed to be less than five years at the time of onset of hypercalciuria (age range from 2 to 14 years). Nephrocalcinosis was observed in 10 (66.7%) patients. Nonobstructive kidney stones were identified in two (13.3%) patients at ages 6 and 11 years. At the last follow-up, nine (60%) had normal kidney function, while four (26.7%) and two (13.3%) patients were observed to have chronic kidney disease stages 1 and 2, respectively. No case of end-stage kidney disease was detected. CONCLUSION: These results highlight significant kidney involvement, particularly hypercalciuria and nephrocalcinosis, in patients with SSS, followed by consequent stones and progressive kidney dysfunction, indicating the need for regular kidney surveillance to ensure timely detection and management of evolving kidney disease.