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Pediatrics
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Genitourinary
Multicystic Renal Disease
Polycystic Kidney Disease, Autosomal Dominant
Polycystic Kidney Disease, Autosomal Dominant
Sara M. O'Hara, MD, FAAP
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Synonyms

            • Autosomal dominant polycystic kidney disease (ADPKD), adult polycystic kidney disease

          • Definitions

            • Hereditary ciliopathy characterized by multiple renal cysts & various other systemic manifestations
              • Pei Ravine criteria: ≥ 3 uni- or bilateral cysts if ≥ 15-years-old; <15-years-old with positive family history, ≥ 1 kidney cyst &/or renal enlargement is considered highly suggestive of ADPKD
            • Cystic organ involvement
              • Kidneys (100%), liver (50%), pancreas (9%), brain/ovaries/testes (1%)
            • Noncystic manifestations
              • Cardiac valve (26%), hernias (25%), colonic diverticula
              • Aneurysms: Cerebral berry aneurysms (5-10%); aortic or coronary aneurysms are less common

          IMAGING

          • General Features

            • Radiographic Findings

              • Ultrasonographic Findings

                • CT Findings

                  • MR Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      Selected References

                                      1. Benz EG et al: Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease. Pediatr Nephrol. 36(9):2639-58, 2021
                                      2. Li D et al: MicroRNAs and polycystic kidney disease. Kidney Med. 2(6):762-70, 2020
                                      3. Meyers ML et al: Imaging of fetal cystic kidney disease: multicystic dysplastic kidney versus renal cystic dysplasia. Pediatr Radiol. 50(13):1921-33, 2020
                                      4. Thomas CC et al: Ultrasound imaging of renal cysts in children. J Ultrasound Med. 40(3):621-35, 2020
                                      5. Botwin A et al: Clinical significance of incidentally discovered renal cysts in pediatric patients. Abdom Radiol (NY). 44(8):2835-40., 2019
                                      6. De Rechter S et al: ADPedKD: A global online platform on the management of children with ADPKD. Kidney Int Rep. 4(9):1271-84, 2019
                                      7. Garel J et al: Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series. Pediatr Radiol. 49(7):906-12, 2019
                                      8. Gimpel C et al: Imaging of kidney cysts and cystic kidney diseases in children: an international working group consensus statement. Radiology. 290(3):769-82, 2019
                                      9. Gimpel C et al: International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat Rev Nephrol. 15(11):713-26, 2019
                                      10. De Rechter S et al: Is autosomal dominant polycystic kidney disease becoming a pediatric disorder? Front Pediatr. 5:272, 2017
                                      11. Strzelczyk M et al: Grayscale ultrasound characteristics of autosomal dominant polycystic kidney disease severity - an adult and pediatric cohort study. J Ultrason. 17(69):85-90, 2017
                                      12. Cadnapaphornchai MA et al: Effect of pravastatin on total kidney volume, left ventricular mass index, and microalbuminuria in pediatric autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 9(5):889-96, 2014
                                      13. Chung EM et al: From the radiologic pathology archives: pediatric polycystic kidney disease and other ciliopathies: radiologic-pathologic correlation. Radiographics. 34(1):155-78, 2014
                                      14. Sweeney WE Jr et al: Diagnosis and management of childhood polycystic kidney disease. Pediatr Nephrol. 26(5):675-92, 2011
                                      15. Barua M et al: Diagnosis of autosomal-dominant polycystic kidney disease: an integrated approach. Semin Nephrol. 30(4):356-65, 2010
                                      16. Katabathina VS et al: Adult renal cystic disease: a genetic, biological, and developmental primer. Radiographics. 30(6):1509-23, 2010
                                      17. Walz G et al: Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2010 Aug 26;363(9):830-40. Epub 2010 Jun 26. Erratum in: N Engl J Med. 2010 Sep 16;363(12):1190. N Engl J Med. 363(20):1977, 2010
                                      18. de Mattos AM et al: Autosomal-dominant polycystic kidney disease as a risk factor for diabetes mellitus following renal transplantation. Kidney Int. 67(2):714-20, 2005
                                      19. Lang EK et al: Autosomal dominant polycystic disease with renal cell carcinoma. J Urol. 173(3):987, 2005
                                      20. Nagaba Y et al: Spontaneous rupture of a left gastroepiploic artery aneurysm in a patient with autosomal-dominant polycystic kidney disease. Clin Nephrol. 63(2):163-6, 2005
                                      21. Paterson AD et al: Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 16(3):755-62, 2005
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Pathology

                                            • Clinical Issues

                                              TERMINOLOGY

                                              • Synonyms

                                                • Autosomal dominant polycystic kidney disease (ADPKD), adult polycystic kidney disease

                                              • Definitions

                                                • Hereditary ciliopathy characterized by multiple renal cysts & various other systemic manifestations
                                                  • Pei Ravine criteria: ≥ 3 uni- or bilateral cysts if ≥ 15-years-old; <15-years-old with positive family history, ≥ 1 kidney cyst &/or renal enlargement is considered highly suggestive of ADPKD
                                                • Cystic organ involvement
                                                  • Kidneys (100%), liver (50%), pancreas (9%), brain/ovaries/testes (1%)
                                                • Noncystic manifestations
                                                  • Cardiac valve (26%), hernias (25%), colonic diverticula
                                                  • Aneurysms: Cerebral berry aneurysms (5-10%); aortic or coronary aneurysms are less common

                                              IMAGING

                                              • General Features

                                                • Radiographic Findings

                                                  • Ultrasonographic Findings

                                                    • CT Findings

                                                      • MR Findings

                                                        • Imaging Recommendations

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Gross Pathologic & Surgical Features

                                                                • Microscopic Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          Selected References

                                                                          1. Benz EG et al: Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease. Pediatr Nephrol. 36(9):2639-58, 2021
                                                                          2. Li D et al: MicroRNAs and polycystic kidney disease. Kidney Med. 2(6):762-70, 2020
                                                                          3. Meyers ML et al: Imaging of fetal cystic kidney disease: multicystic dysplastic kidney versus renal cystic dysplasia. Pediatr Radiol. 50(13):1921-33, 2020
                                                                          4. Thomas CC et al: Ultrasound imaging of renal cysts in children. J Ultrasound Med. 40(3):621-35, 2020
                                                                          5. Botwin A et al: Clinical significance of incidentally discovered renal cysts in pediatric patients. Abdom Radiol (NY). 44(8):2835-40., 2019
                                                                          6. De Rechter S et al: ADPedKD: A global online platform on the management of children with ADPKD. Kidney Int Rep. 4(9):1271-84, 2019
                                                                          7. Garel J et al: Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series. Pediatr Radiol. 49(7):906-12, 2019
                                                                          8. Gimpel C et al: Imaging of kidney cysts and cystic kidney diseases in children: an international working group consensus statement. Radiology. 290(3):769-82, 2019
                                                                          9. Gimpel C et al: International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat Rev Nephrol. 15(11):713-26, 2019
                                                                          10. De Rechter S et al: Is autosomal dominant polycystic kidney disease becoming a pediatric disorder? Front Pediatr. 5:272, 2017
                                                                          11. Strzelczyk M et al: Grayscale ultrasound characteristics of autosomal dominant polycystic kidney disease severity - an adult and pediatric cohort study. J Ultrason. 17(69):85-90, 2017
                                                                          12. Cadnapaphornchai MA et al: Effect of pravastatin on total kidney volume, left ventricular mass index, and microalbuminuria in pediatric autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 9(5):889-96, 2014
                                                                          13. Chung EM et al: From the radiologic pathology archives: pediatric polycystic kidney disease and other ciliopathies: radiologic-pathologic correlation. Radiographics. 34(1):155-78, 2014
                                                                          14. Sweeney WE Jr et al: Diagnosis and management of childhood polycystic kidney disease. Pediatr Nephrol. 26(5):675-92, 2011
                                                                          15. Barua M et al: Diagnosis of autosomal-dominant polycystic kidney disease: an integrated approach. Semin Nephrol. 30(4):356-65, 2010
                                                                          16. Katabathina VS et al: Adult renal cystic disease: a genetic, biological, and developmental primer. Radiographics. 30(6):1509-23, 2010
                                                                          17. Walz G et al: Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2010 Aug 26;363(9):830-40. Epub 2010 Jun 26. Erratum in: N Engl J Med. 2010 Sep 16;363(12):1190. N Engl J Med. 363(20):1977, 2010
                                                                          18. de Mattos AM et al: Autosomal-dominant polycystic kidney disease as a risk factor for diabetes mellitus following renal transplantation. Kidney Int. 67(2):714-20, 2005
                                                                          19. Lang EK et al: Autosomal dominant polycystic disease with renal cell carcinoma. J Urol. 173(3):987, 2005
                                                                          20. Nagaba Y et al: Spontaneous rupture of a left gastroepiploic artery aneurysm in a patient with autosomal-dominant polycystic kidney disease. Clin Nephrol. 63(2):163-6, 2005
                                                                          21. Paterson AD et al: Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 16(3):755-62, 2005