9 Springer-Verlag 1992 Pediatr Radiol (1992) 22:596-597
Chronic granulomatous disease with renal stones S. H. Mohammed 1, H. Vyas 2 Department of Radiology, The Royal Hospital, P. O. Box 2331, CPO Seeb, Muscat, Sultanate of Oman 2Department of Child Health, The Royal Hospital, P. O. Box 2331, CPO Seeb, Muscat, Sultanate of Oman Received: 11 August 1992/Accepted: 6 September 1992
Abstract. A case of chronic granulomatous disease with hydronephrosis and renal calculi is presented. This is to our knowledge the first such case to be reported. The calculi were successfully ablated by extracorporeal shockwave lithotripsy. Chronic granulomatous disease of childhood ( C G D ) is a rare hereditary disease of neutrophil dysfunction resulting, early in life, in recurrent infections caused by catalase-positive organisms. It is characterised by granulomatous and suppurative infections of the skin, lymph nodes, lungs and liver. The genitourinary tract is only rarely involved in CGD. In the few cases reported recently [1-3], the genitourinary involvement was mainly in the lower tract, with cystitis, vesicoureteric reflux and obstruction of the ureters by enlarged lymph nodes, causing hydronephrosis and pyelonephritis. We report the case of an 8-year-old boy with C G D who presented with renal calculi which were successfully treated by extracorporeal shockwave lithotripsy (ESWL).
Case report A patient with confirmed CGD presented with right flank pain and frank haematuria for the first time at the age of 7 years. His serum and urinary biochemistry were normal and the urine cultures were sterile. Ultrasound and excretory urography revealed right renal pelvic stones and ipsilateral hydronephrosis (Fig. 1). The left kidney, ureters and urinary bladder were normal. There was no ultrasonic evidence of any abdominal lymphadenopathy. The right renal stones were successCorrespondence to: S. H. Mohammed
Fig. 1. a IVP film and b ultrasound scan showing calculi (arrows) and hydronephrosis in the right kidney Fig.2. a Plain abdominal film 6 months after ESWL and b ultrasound scan of right kidney 1 year after ESWL: both show no renal calculi
fully ablated by ESWL. The patient has remained clinically well since, and repeat ultrasound and plain abdominal X-ray examinations have not shown any abnormalities in the genitourinary tract in the past 12 months (Fig.2).
Discussion Genitourinary tract involvement in C G D with cystitis was first reported by Kontras et al. . Pyelonephritis and
597 hydronephrosis related to regional lymphadenopathy and lower ureteric changes associated with chronic cystitis have also been reported, as well as xanthogranulomatous pyelonephritis, amyloid deposition and immune complex glomerulonephritis [1-3]. However, primary renal involvement with stone formation has not been reported before. It is interesting to note that though this patient had been under our regular care since birth there had not been any suggestion or suspicion of urinary tract involvement until his presentation at 7 years of age. One can only speculate on the aetiology of the stone formation in this case as the calculi were not analysed after successful ESWL. Routine urine analysis may not demonstrate urinary
tract pathology in these patients because most of them would be on long-term antibiotic therapy. It is interesting to note that the first autopsy-proven case of CGD with renal involvement  was also unaccompanied by clinical signs. Though we agree with Casale et al.  that the genitourinary tract in patients with CGD should be investigated at any sign or symptom pertaining to it, we suggest that regular imaging of the genitourinary tract is mandatory even in the absence of related symptoms. ESWL should be the first-choice treatment for renal calculi in patients with CGD. Being non-invasive, it has both medical and economic advantages over surgery, especially in patients with CGD, who would be at high risk for peri- and postoperative infections.
References 1. Aliabadi H, Gonzales R, Quie PG (1989) Urinary tract disorders in patients with chronic granulomatous disease. N Engl J Med 321:706-708 2. Casale AJ, Balcom AH, Wells RG, Chusid MJ (1989) Bilateral complete ureteral obstruction and renalinsufficiency secondary to chronic granulomatous disease. J Urol 142:812-814 3. Young AK, Middleton JG, McClave CR, Smith JP (1980) Urologic manifestations of chronic granulomatous disease. J Uro1123: 119-120 4. Kontras SB, Bodenbender JG, McClave CR (1971) Interstitial cystitis in chronic granulomatous disease. J Urol 105: 575578 5. Carson MJ, Chadwick DL, Brubaker LA, Cleland RS, Landing BH (1965) Thirteen boys with progressive septic granulomatosis. Pediatrics 35:405