Hindawi Publishing Corporation Case Reports in Medicine Volume 2012, Article ID 428749, 3 pages doi:10.1155/2012/428749 Case Report An 11-Year-Old Child with Autosomal Dominant Polycystic Kidney Disease Who Presented with Nephrolithiasis Fatih Firinci,1 Alper Soylu,2 Belde Kasap Demir,3 Mehmet Turkmen,2 and Salih Kavukcu2 1 Department of Pediatrics, Dokuz Eylul University, 35340 Izmir, Turkey 2 Department of Pediatric Nephrology, Dokuz Eylul University, 35340 Izmir, Turkey 3 Department of Pediatrics, Gaziantep Education Hospital, 27560 Gaziantep, Turkey Correspondence should be addressed to Fatih Firinci, fatihﬁrinci@yahoo.com Received 2 January 2012; Revised 1 February 2012; Accepted 13 February 2012 Academic Editor: Ahmet H. Tefekli Copyright © 2012 Fatih Firinci et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Patients with autosomal dominant polycystic kidney disease become symptomatic and are diagnosed usually at adulthood. The rate of nephrolithiasis in these patients is 5–10 times the rate in the general population, and both anatomic and metabolic abnormalities play role in the formation of renal stones. However, nephrolithiasis is rare in childhood age group. In this paper, an 11-year-old child with autosomal dominant polycystic kidney disease presenting with nephrolithiasis is discussed. 1. Introduction Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease that is responsi- ble for 8 to 10% of end-stage renal disease in adults [1, 2]. Although the disease might be diagnosed in the newborn or early childhood periods, the symptomatic disease com- monly presents during adulthood [1]. The prevalence of nephrolithiasis among ADPKD patients is 20% which is 5–10 times more than the general population [2]. In addition to anatomic factors, metabolic abnormalities have also been described in the pathogenesis of nephrolithiasis in these patients. Nephrolithiasis is rare during childhood and commonly develops after the age of 20 [3]. However, in patients with known ADPKD presenting with ﬂank pain, nephrolithiasis must be taken into consideration [4]. In this paper we describe an 11-year-old child with ADPKD who was presented with bloody urine and ﬂank pain. He was determined to have nephrolithiasis and hypocitraturia as a predisposing factor. 2. Case Report An 11-year-old boy presented with the complaints of abdom- inal pain and bloody urine following a mild abdominal trauma. Physical examination was normal other than left costovertebral angle tenderness including anthropometric measurements and blood pressure. Urinalysis showed 3+ blood and 1+ protein with many isomorphic erythrocytes in the microscopic evaluation of the sediment. Serum bio- chemistry including renal and liver functions, electrolytes, calcium, phosphorus, and alkaline phosphatase was normal. Abdominal ultrasonography showed that both kidneys were larger than normal and had numerous millimetric cysts. There were bigger cysts at the upper pole of the right kidney and upper and lower poles of the left kidney reaching 10 mm, 12 mm, and 13 mm in diameter, respectively. In addition, there were numerous millimetric calculi in both kidneys with 3 large calculi in the right (8, 5, and 5 mm) and one in the left (9 mm) kidneys (Figure 1). The patient’s family history revealed that his father, pa- ternal uncle, and aunt had polycystic kidney disease. Fur- thermore, his grandfather deceased due to chronic renal failure, and his uncle was undergoing chronic hemodialysis program. All aﬀected family members had renal stone disease as well. Metabolic investigations for urolithiasis were shown in Table 1. All test results were normal except urinary citrate ex- cretion which was at the lower limit of the normal range. The patient was hospitalized, and parenteral hydration was performed. His abdominal pain was controlled with