Case Studies in Cystinuria

David S. Goldfarb, MD; Michael Grasso, MD


Urol Nurs. 2017;37(2):90-93. 

In This Article

Abstract and Introduction


The diagnosis and treatment of patients with rare inherited metabolic disorders associated with recurrent and often obstructive kidney stones are important to the prevention of chronic kidney disease or end stage renal disease. Two case studies in this article describe the diagnosis and management of cystinuria, the most common rare kidney stone disorder.


Kidney stones, particularly those that present in childhood, may be due to rare inherited metabolic disorders (see accompanying article on rare kidney stone disorders in this issue [Goldstein & Goldfarb, 2017]). Patients with these rare disorders have recurrent and often obstructive stone formation that can lead to chronic kidney disease and even end stage renal disease. There is often significant delay in the diagnosis of these disorders, and patients may have to undergo multiple urologic procedures for stone removal, which can have a significant impact on their quality of life. Given the severity and chronicity of these conditions and the associated risk of progressive renal injury, the importance of early diagnosis and appropriate management cannot be overemphasized. Here, we describe two cases that illustrate the diagnostic workup and medical-surgical management of cystinuria, the most common of the rare kidney stone disorders.