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Polycystic Kidney Disease, Autosomal Recessive
Sara M. O'Hara, MD, FAAP
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Synonyms

            • Infantile polycystic kidney disease
          • Definitions

            • Autosomal recessive polycystic kidney disease (ARPKD): Single gene ciliopathy characterized by dilated, distal, convoluted tubules & collecting ducts

          IMAGING

          • General Features

            • Radiographic Findings

              • Ultrasonographic Findings

                • MR Findings

                  • CT Findings

                    • Nuclear Medicine 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. Akarkach A et al: Maintenance peritoneal dialysis in children with autosomal recessive polycystic kidney disease: a comparative cohort study of the International Pediatric Peritoneal Dialysis Network Registry. Am J Kidney Dis. 75(3):460-4, 2020
                                        3. Dorval G et al: Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease. Pediatr Nephrol. 36(5):1165-73, 2020
                                        4. Hartung EA et al: Magnetic resonance elastography to quantify liver disease severity in autosomal recessive polycystic kidney disease. Abdom Radiol (NY). 46(2):570-80, 2020
                                        5. Meyers ML et al: Imaging of fetal cystic kidney disease: multicystic dysplastic kidney versus renal cystic dysplasia. Pediatr Radiol. 50(13):1921-33, 2020
                                        6. Overman RE et al: Early nephrectomy in neonates with symptomatic autosomal recessive polycystic kidney disease. J Pediatr Surg. 56(2):328-31, 2020
                                        7. Thomas CC et al: Ultrasound Imaging of Renal Cysts in Children. J Ultrasound Med. 40(3):621-35, 2020
                                        8. Wicher D et al: Occurrence of portal hypertension and its clinical course in patients with molecularly confirmed autosomal recessive polycystic kidney disease (ARPKD). Front Pediatr. 8:591379, 2020
                                        9. Garel J et al: Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series. Pediatr Radiol. 49(7):906-12, 2019
                                        10. 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
                                        11. Serai SD et al: Diffusion tensor imaging of the kidney in healthy controls and in children and young adults with autosomal recessive polycystic kidney disease. Abdom Radiol (NY). 44(5):1867-72, 2019
                                        12. Burgmaier K et al: Risk factors for early dialysis dependency in autosomal recessive polycystic kidney disease. J Pediatr. 199:22-8.e6, 2018
                                        13. Dillman JR et al: Hereditary renal cystic disorders: imaging of the kidneys and beyond. Radiographics. 37(3):924-46, 2017
                                        14. Curran-Melendez SM et al: Sorting the alphabet soup of renal pathology: a review. Curr Probl Diagn Radiol.47(6):417-27, 2016
                                        15. Dell KM et al: Kidney disease progression in autosomal recessive polycystic kidney disease. J Pediatr. 171:196-201.e1, 2016
                                        16. Park E et al: Hepatorenal fibrocystic diseases in children. Pediatr Nephrol. 31(1):113-9, 2016
                                        17. Büscher R et al: Combined liver and kidney transplantation and kidney after liver transplantation in children: Indication, postoperative outcome, and long-term results. Pediatr Transplant. 19(8):858-65, 2015
                                        18. Cramer MT et al: Cystic kidney disease: a primer. Adv Chronic Kidney Dis. 22(4):297-305, 2015
                                        19. Obusez EC et al: Autosomal recessive polycystic kidney disease with Caroli syndrome. J Urol. 193(2):679-80, 2015
                                        20. Guay-Woodford LM: Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases. J Pediatr Genet. 3(2):89-101, 2014
                                        21. Guay-Woodford LM et al: Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. J Pediatr. 165(3):611-7, 2014
                                        22. Hartung EA et al: Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. Pediatrics. 134(3):e833-45, 2014
                                        23. Sweeney WE Jr et al: Diagnosis and management of childhood polycystic kidney disease. Pediatr Nephrol. 26(5):675-92, 2011
                                        24. Turkbey B et al: Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol. 39(2):100-11, 2009
                                        25. Bergmann C et al: Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 67(3):829-48, 2005
                                        26. Traubici J et al: High-resolution renal sonography in children with autosomal recessive polycystic kidney disease. AJR Am J Roentgenol. 184(5):1630-3, 2005
                                        27. Zerres K et al: New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. Clin Genet. 66(1):53-7, 2004
                                        28. Guay-Woodford LM et al: Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 111(5 Pt 1):1072-80, 2003
                                        29. Stein-Wexler R et al: Sonography of macrocysts in infantile polycystic kidney disease. J Ultrasound Med. 22(1):105-7, 2003
                                        30. Avni FE et al: Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood. Pediatr Radiol. 32(3):169-74, 2002
                                        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

                                                  • Infantile polycystic kidney disease
                                                • Definitions

                                                  • Autosomal recessive polycystic kidney disease (ARPKD): Single gene ciliopathy characterized by dilated, distal, convoluted tubules & collecting ducts

                                                IMAGING

                                                • General Features

                                                  • Radiographic Findings

                                                    • Ultrasonographic Findings

                                                      • MR Findings

                                                        • CT Findings

                                                          • Nuclear Medicine 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. Akarkach A et al: Maintenance peritoneal dialysis in children with autosomal recessive polycystic kidney disease: a comparative cohort study of the International Pediatric Peritoneal Dialysis Network Registry. Am J Kidney Dis. 75(3):460-4, 2020
                                                                              3. Dorval G et al: Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease. Pediatr Nephrol. 36(5):1165-73, 2020
                                                                              4. Hartung EA et al: Magnetic resonance elastography to quantify liver disease severity in autosomal recessive polycystic kidney disease. Abdom Radiol (NY). 46(2):570-80, 2020
                                                                              5. Meyers ML et al: Imaging of fetal cystic kidney disease: multicystic dysplastic kidney versus renal cystic dysplasia. Pediatr Radiol. 50(13):1921-33, 2020
                                                                              6. Overman RE et al: Early nephrectomy in neonates with symptomatic autosomal recessive polycystic kidney disease. J Pediatr Surg. 56(2):328-31, 2020
                                                                              7. Thomas CC et al: Ultrasound Imaging of Renal Cysts in Children. J Ultrasound Med. 40(3):621-35, 2020
                                                                              8. Wicher D et al: Occurrence of portal hypertension and its clinical course in patients with molecularly confirmed autosomal recessive polycystic kidney disease (ARPKD). Front Pediatr. 8:591379, 2020
                                                                              9. Garel J et al: Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series. Pediatr Radiol. 49(7):906-12, 2019
                                                                              10. 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
                                                                              11. Serai SD et al: Diffusion tensor imaging of the kidney in healthy controls and in children and young adults with autosomal recessive polycystic kidney disease. Abdom Radiol (NY). 44(5):1867-72, 2019
                                                                              12. Burgmaier K et al: Risk factors for early dialysis dependency in autosomal recessive polycystic kidney disease. J Pediatr. 199:22-8.e6, 2018
                                                                              13. Dillman JR et al: Hereditary renal cystic disorders: imaging of the kidneys and beyond. Radiographics. 37(3):924-46, 2017
                                                                              14. Curran-Melendez SM et al: Sorting the alphabet soup of renal pathology: a review. Curr Probl Diagn Radiol.47(6):417-27, 2016
                                                                              15. Dell KM et al: Kidney disease progression in autosomal recessive polycystic kidney disease. J Pediatr. 171:196-201.e1, 2016
                                                                              16. Park E et al: Hepatorenal fibrocystic diseases in children. Pediatr Nephrol. 31(1):113-9, 2016
                                                                              17. Büscher R et al: Combined liver and kidney transplantation and kidney after liver transplantation in children: Indication, postoperative outcome, and long-term results. Pediatr Transplant. 19(8):858-65, 2015
                                                                              18. Cramer MT et al: Cystic kidney disease: a primer. Adv Chronic Kidney Dis. 22(4):297-305, 2015
                                                                              19. Obusez EC et al: Autosomal recessive polycystic kidney disease with Caroli syndrome. J Urol. 193(2):679-80, 2015
                                                                              20. Guay-Woodford LM: Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases. J Pediatr Genet. 3(2):89-101, 2014
                                                                              21. Guay-Woodford LM et al: Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. J Pediatr. 165(3):611-7, 2014
                                                                              22. Hartung EA et al: Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. Pediatrics. 134(3):e833-45, 2014
                                                                              23. Sweeney WE Jr et al: Diagnosis and management of childhood polycystic kidney disease. Pediatr Nephrol. 26(5):675-92, 2011
                                                                              24. Turkbey B et al: Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol. 39(2):100-11, 2009
                                                                              25. Bergmann C et al: Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 67(3):829-48, 2005
                                                                              26. Traubici J et al: High-resolution renal sonography in children with autosomal recessive polycystic kidney disease. AJR Am J Roentgenol. 184(5):1630-3, 2005
                                                                              27. Zerres K et al: New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. Clin Genet. 66(1):53-7, 2004
                                                                              28. Guay-Woodford LM et al: Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 111(5 Pt 1):1072-80, 2003
                                                                              29. Stein-Wexler R et al: Sonography of macrocysts in infantile polycystic kidney disease. J Ultrasound Med. 22(1):105-7, 2003
                                                                              30. Avni FE et al: Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood. Pediatr Radiol. 32(3):169-74, 2002