Myotonic dystrophy is a debilitating genetic disease that carries a predilection for a variety of comorbidities. Kidney stone disease in this population can present a variety of unique challenges related to patient age, comorbidities, and social factors. We present a video review case of a 13-year-old girl with myotonic dystrophy who was treated surgically for large bilateral stone burden, bilateral retained ureteral stents with nephrostomy tubes, and right ureteral stricture. The patient had multiple prior urologic procedures and recurrent admissions for infection prior to presentation. Preoperative planning included non-contrast CT imaging, admission to an intensive care unit, and multidisciplinary discussion of treatment and goals. Through combined antegrade and retrograde approaches, the patient's stone burden was cleared, right ureteral stricture was treated, and all tubes were able to be removed in two major procedures and one minor cystoscopy with stent removal under anesthesia. Early referral to tertiary care centers and involvement of multiple specialist teams may help reduce perioperative risk and minimize the number of surgeries. Additionally, patients at high anesthesia risk may benefit from concurrent percutaneous nephrolithotomy with endopyelotomy.
American journal of clinical and experimental urology. 2023 Oct 15*** epublish ***
Ryan M Blake, Neha Malhotra, Mantu Gupta, Johnathan A Khusid
Urology Department, Icahn School of Medicine at Mount Sinai New York, NY 1002, USA.