Kidney imaging for the diagnosis and follow-up of a primary hyperoxaluria type 1 patient with NC, NL, and severe chronic kidney disease: a case report with literature review.

The case of a 41-year-old female patient, with progressive decrease in kidney function, and ultrasound evidencing nephrocalcinosis and nephrolithiasis aims to highlight the importance of interdisciplinary collaboration to diagnose kidney stone diseases and the role of kidney imaging in the evaluation of nephrocalcinosis and nephrolithiasis. Primarily based on abdominal imaging and kidney impairment, the patient was referred to a nephrologist, who diagnosed her with a rare genetic disease, primary hyperoxaluria type 1, with a severe prognosis if not properly and timely treated. The kidney imaging was crucial for the etiologic diagnosis and follow-up of the specific treatment response.