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      An 11-Year-Old Child with Autosomal Dominant Polycystic Kidney Disease Who Presented with Nephrolithiasis

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          Abstract

          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.

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          Polycystic kidney disease.

          Richard Wilson (2004)
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            Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1.

            A. Walker, D Ravine, Kellie N Smith … (1994)
            Although ultrasound is commonly used for screening subjects at risk of polycystic kidney disease 1 (PKD1), there has been no evaluation of ultrasonographic diagnostic criteria. We used DNA linkage among subjects from 128 sibships within 18 PKD1 families as the basis for an assessment of ultrasound sensitivity. Positive and negative predictive values were calculated to allow assessment of different diagnostic cut-off points in previously undiagnosed cases. Currently used criteria (bilateral cysts with at least two in one kidney) provided good sensitivity (88.5% at age 15-29 years and 100% at 30 years and above) but performance could be improved by less stringent criteria in subjects aged 15-29 years and more stringent criteria in older family members, in whom simple renal cysts are frequent. The presence of at least two renal cysts (unilateral or bilateral) in individuals at risk and younger than 30 years may be regarded as sufficient to establish a diagnosis; among those aged 30-59 years, the presence of at least two cysts in each kidney may be required, and among those aged 60 years and above, at least four cysts in each kidney should be required.
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              Renal stone disease in autosomal dominant polycystic kidney disease.

              Vicente Torres, David Wilson, Robert R Hattery … (1993)
              Nephrolithiasis is an important manifestation of autosomal dominant polycystic kidney disease (ADPKD), which occurs in approximately 20% of patients. It should always enter the differential diagnosis of flank pain in patients with ADPKD. The diagnosis is hindered by the distorted anatomy of the polycystic kidneys and the frequent occurrence of parenchymal and cyst wall calcifications, and requires demonstration of the relationship to the collecting system by intravenous urography and/or computed tomography. Computed tomography is the most sensitive imaging technique for detection of stones or calcifications, whereas intravenous urography is the most sensitive for visualization of the intrarenal collecting system. Precaliceal tubular ectasia can be detected in 15% of patients with ADPKD and nephrolithiasis, but this association may not be specific to ADPKD. The composition of the stones is most frequently uric acid and/or calcium oxalate. Metabolic factors are important in their pathogenesis. Distal acidification defects may be important in a few patients, while an abnormal transport of ammonium, low urine pH, and hypocitruria are the most common abnormalities. The treatment of nephrolithiasis in patients with ADPKD is not different from that in patients without ADPKD. Extracorporeal shock wave lithotripsy and percutaneous nephrostolithotomy in patients with early disease and normal renal function are not contraindicated.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Case Report Med
                Journal ID (iso-abbrev): Case Report Med
                Journal ID (publisher-id): CRIM
                Title: Case Reports in Medicine
                Publisher: Hindawi Publishing Corporation
                ISSN (Print): 1687-9627
                ISSN (Electronic): 1687-9635
                Publication date (Print): 2012
                Publication date (Electronic): 11 April 2012
                Volume: 2012
                Electronic Location Identifier: 428749
                Affiliations
                1Department of Pediatrics, Dokuz Eylul University, 35340 Izmir, Turkey
                2Department of Pediatric Nephrology, Dokuz Eylul University, 35340 Izmir, Turkey
                3Department of Pediatrics, Gaziantep Education Hospital, 27560 Gaziantep, Turkey
                Author notes

                Academic Editor: Ahmet H. Tefekli

                Article
                DOI: 10.1155/2012/428749
                PMC ID: 3332234
                PubMed ID: 22567016
                SO-VID: 02e6f6aa-e820-4be3-a36e-f1fd95d57794
                Copyright © Copyright © 2012 Fatih Firinci et al.
                License:

                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.

                History
                Date received : 2 January 2012
                Date revision received : 1 February 2012
                Date accepted : 13 February 2012
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Medicine
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                ScienceOpen disciplines: Medicine

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