Renal and Genitourinary Concerns

A number of inherited disorders result in renal cyst development. The most common form, autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed in adults and caused by mutation in PKD1 or PKD2. The PKD1 protein, polycystin-1, is a large receptor-like protein, whereas polycystin-2 is a transient receptor potential channel. The polycystin complex localizes to primary cilia and may act as a mechanosensor essential for maintaining the differentiated state of epithelia lining tubules in the kidney and biliary tract. Elucidation of defective cellular processes has highlighted potential therapies, some of which are now being tested in clinical trials. ARPKD is the neonatal form of PKD and is associated with enlarged kidneys and biliary dysgenesis. The disease phenotype is highly variable, ranging from neonatal death to later presentation with minimal kidney disease. ARPKD is caused by mutation in PKHD1, and two truncating mutations are associated with neonatal lethality. The ARPKD protein, fibrocystin, is localized to cilia/basal body and complexes with polycystin-2. Rare, syndromic forms of PKD also include defects of the eye, central nervous system, digits, and/or neural tube and highlight the role of cilia and pathways such as Wnt and Hh in their pathogenesis.

Urologists rarely need to consider bacteria beyond their role in infectious disease. However, emerging evidence shows that the microorganisms inhabiting many sites of the body, including the urinary tract--which has long been assumed sterile in healthy individuals--might have a role in maintaining urinary health. Studies of the urinary microbiota have identified remarkable differences between healthy populations and those with urologic diseases. Microorganisms at sites distal to the kidney, bladder and urethra are likely to have a profound effect on urologic health, both positive and negative, owing to their metabolic output and other contributions. Connections between the gut microbiota and renal stone formation have already been discovered. In addition, bacteria are also used in the prevention of bladder cancer recurrence. In the future, urologists will need to consider possible influences of the microbiome in diagnosis and treatment of certain urological conditions. New insights might provide an opportunity to predict the risk of developing certain urological diseases and could enable the development of innovative therapeutic strategies.

Prior studies using radiography have examined the relationship of ureteral stone size and location to the probability of spontaneous passage. Given the improved accuracy and new role of unenhanced CT in the diagnosis of acute ureterolithiasis, we studied the relationship of stone size and location as determined by unenhanced CT to the rate of spontaneous passage. Over a 29-month period, 850 patients with acute flank pain were evaluated with unenhanced CT. Confirmation of the CT diagnosis was obtained retrospectively for 172 patients with ureteral stones: 115 stones passed spontaneously and 57 required intervention. Stone size was defined as the maximum diameter within the plane of the axial CT section. Stone location was classified as proximal ureter (above the sacroiliac joints), mid ureter (overlying the sacroiliac joints), distal ureter (below the sacroiliac joints), and ureterovesical junction. The spontaneous passage rate for stones 1 mm in diameter was 87%; for stones 2-4 mm, 76%; for stones 5-7 mm, 60%; for stones 7-9 mm, 48%; and for stones larger than 9 mm, 25%. Spontaneous passage rate as a function of stone location was 48% for stones in the proximal ureter, 60% for mid ureteral stones, 75% for distal stones, and 79% for ureterovesical junction stones. The rate of spontaneous passage of ureteral stones does vary with stone size and location as determined by CT. These rates are similar to those previously published based on radiography.