A Lesson in Screening for Hereditary Kidney Cancer Syndromes

Cindy Curry; Kelly Ernst


Urol Nurs. 2019;39(3):141-144. 

In This Article

Abstract and Introduction


A healthy, 30-year-old female presents to urgent care with acute right flank pain. CT revealed right pyelonephritis and an incidental left renal mass. She undergoes left partial nephrectomy for chromophobe-type renal cell carcinoma. Given her young age, she is referred for genetic testing post-operatively and is ultimately diagnosed with Birt-Hogg-Dubé, a rare genetic syndrome.


An otherwise healthy 30-year-old, gravida 0/para 0, female elementary school teacher with a history of asthma and depression presented to an urgent care facility with acute onset of right flank pain that started while exercising. She was a non-smoker who rarely drank alcohol; sexually active, in a monogamous relationship. She had no prior surgical history. Daily medications included citalopram 20 mg daily, fluticasone nasal spray as needed, albuterol inhaler as needed, an oral contraceptive pill daily, and 1,000 IU of vitamin D daily.

Pain radiated from the right flank to the right lower quadrant without dysuria or hematuria. Vitals were stable: blood pressure 116/72, pulse 70 bpm, and afebrile. Urine pregnancy test was negative. She had no prior history of kidney stones or recurrent urinary tract infections. Urinalysis was suspicious for a urinary tract infection with 2+ leukocytes, nitrites, and 1+ blood; urine was sent for culture. A computerized tomography (CT) scan without contrast of the abdomen and pelvis was obtained while at urgent care to rule out an infected, obstructing ureteral stone that would have required emergent decompression with a ureteral stent. The CT demonstrated haziness in the mid-right kidney consistent with pyelonephritis but was negative for an obstructing ureteral stone. However, an incidental left lower pole solid renal mass (3.4 cm) was seen, and she was referred to urology for further evaluation of the renal mass. She was discharged home from urgent care with ciprofloxacin 500 mg twice daily for 10 days to treat the pyelonephritis. Ultimately, the urine culture was positive for greater than 100,000 colonies of pan-sensitive Escherichia coli.