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Autosomal Recessive Polycystic Kidney Disease
Paula J. Woodward, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Autosomal recessive polycystic kidney disease (ARPKD)
            • Definitions

              • Most common ciliopathy in fetus (hepatorenal fibrocystic diseases/syndromes)
              • Single gene disorder resulting in bilateral, symmetric, cystic renal disease + hepatic fibrosis
                • Involves distal convoluted tubules + collecting ducts (i.e., medulla); cortex is relatively spared

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      Selected References

                                      1. Traisrisilp K et al: Giant choledochal cyst and infantile polycystic kidneys as prenatal sonographic features of Caroli syndrome. J Clin Ultrasound. 48(1):45-7, 2020
                                      2. Rivas A et al: Prenatal MR imaging features of Caroli syndrome in association with autosomal recessive polycystic kidney disease. Radiol Case Rep. 14(2):265-8, 2019
                                      3. Erger F et al: Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases. Arch Gynecol Obstet. 295(4):897-906, 2017
                                      4. Banks N et al: Pregnancy in autosomal recessive polycystic kidney disease. Arch Gynecol Obstet. 291(3):705-8, 2015
                                      5. Hoyer PF: Clinical manifestations of autosomal recessive polycystic kidney disease. Curr Opin Pediatr. 27(2):186-92, 2015
                                      6. Jahnukainen T et al: Long-term pulmonary function in children with recessive polycystic kidney disease. Arch Dis Child. 100(10):944-7, 2015
                                      7. Ling G et al: Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD). Clin Nephrol. 83(5):297-300, 2015
                                      8. 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
                                      9. Frank V et al: Transcriptional complexity in autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol. 9(10):1729-36, 2014
                                      10. Guay-Woodford LM: Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases. J Pediatr Genet. 3(2):89-101, 2014
                                      11. Riella C et al: Therapeutic advances in the treatment of polycystic kidney disease. Nephron Clin Pract. 128(3-4):297-302, 2014
                                      12. Thakur P et al: Novel mutation in the PKHD1 gene diagnosed prenatally in a fetus with autosomal recessive polycystic kidney disease. Case Rep Genet. 2014:517952, 2014
                                      13. Verghese P et al: Neonatal polycystic kidney disease. Clin Perinatol. 41(3):543-60, 2014
                                      14. Denamur E et al: Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Kidney Int. 77(4):350-8, 2010
                                      15. Liu YP et al: Autosomal recessive polycystic kidney disease: appearance on fetal MRI. Pediatr Radiol. 36(2):169, 2006
                                      16. 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
                                      17. Guay-Woodford LM et al: Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 111(5 Pt 1):1072-80, 2003
                                      18. Lonergan GJ et al: Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation. Radiographics. 20(3):837-55, 2000
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Pathology

                                              • Clinical Issues

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Autosomal recessive polycystic kidney disease (ARPKD)
                                                • Definitions

                                                  • Most common ciliopathy in fetus (hepatorenal fibrocystic diseases/syndromes)
                                                  • Single gene disorder resulting in bilateral, symmetric, cystic renal disease + hepatic fibrosis
                                                    • Involves distal convoluted tubules + collecting ducts (i.e., medulla); cortex is relatively spared

                                                IMAGING

                                                • General Features

                                                  • Ultrasonographic Findings

                                                    • MR Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Gross Pathologic & Surgical Features

                                                              • Microscopic Features

                                                                CLINICAL ISSUES

                                                                • Presentation

                                                                  • Demographics

                                                                    • Natural History & Prognosis

                                                                      • Treatment

                                                                        DIAGNOSTIC CHECKLIST

                                                                        • Consider

                                                                          Selected References

                                                                          1. Traisrisilp K et al: Giant choledochal cyst and infantile polycystic kidneys as prenatal sonographic features of Caroli syndrome. J Clin Ultrasound. 48(1):45-7, 2020
                                                                          2. Rivas A et al: Prenatal MR imaging features of Caroli syndrome in association with autosomal recessive polycystic kidney disease. Radiol Case Rep. 14(2):265-8, 2019
                                                                          3. Erger F et al: Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases. Arch Gynecol Obstet. 295(4):897-906, 2017
                                                                          4. Banks N et al: Pregnancy in autosomal recessive polycystic kidney disease. Arch Gynecol Obstet. 291(3):705-8, 2015
                                                                          5. Hoyer PF: Clinical manifestations of autosomal recessive polycystic kidney disease. Curr Opin Pediatr. 27(2):186-92, 2015
                                                                          6. Jahnukainen T et al: Long-term pulmonary function in children with recessive polycystic kidney disease. Arch Dis Child. 100(10):944-7, 2015
                                                                          7. Ling G et al: Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD). Clin Nephrol. 83(5):297-300, 2015
                                                                          8. 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
                                                                          9. Frank V et al: Transcriptional complexity in autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol. 9(10):1729-36, 2014
                                                                          10. Guay-Woodford LM: Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases. J Pediatr Genet. 3(2):89-101, 2014
                                                                          11. Riella C et al: Therapeutic advances in the treatment of polycystic kidney disease. Nephron Clin Pract. 128(3-4):297-302, 2014
                                                                          12. Thakur P et al: Novel mutation in the PKHD1 gene diagnosed prenatally in a fetus with autosomal recessive polycystic kidney disease. Case Rep Genet. 2014:517952, 2014
                                                                          13. Verghese P et al: Neonatal polycystic kidney disease. Clin Perinatol. 41(3):543-60, 2014
                                                                          14. Denamur E et al: Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Kidney Int. 77(4):350-8, 2010
                                                                          15. Liu YP et al: Autosomal recessive polycystic kidney disease: appearance on fetal MRI. Pediatr Radiol. 36(2):169, 2006
                                                                          16. 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
                                                                          17. Guay-Woodford LM et al: Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 111(5 Pt 1):1072-80, 2003
                                                                          18. Lonergan GJ et al: Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation. Radiographics. 20(3):837-55, 2000