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Obstetrics
Diagnosis
Genitourinary Tract
Renal Malformations
Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Autosomal recessive polycystic kidney disease (ARPKD)

            • Definitions

              • ARPKD is 1 of hepatorenal fibrocystic diseases/syndromes
                • New nomenclature to encompass full spectrum of disease
                • Underlying pathology is ciliopathy
              • Single gene disorder resulting in bilateral, symmetric, cystic renal disease + hepatic fibrosis
                • Involves distal convoluted tubules + collecting ducts (i.e., medulla), cortex is 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. Banks N et al: Pregnancy in autosomal recessive polycystic kidney disease. Arch Gynecol Obstet. 291(3):705-8, 2015
                                      2. Chandar J et al: Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney? Pediatr Nephrol. 30(8):1233-42, 2015
                                      3. Hoyer PF: Clinical manifestations of autosomal recessive polycystic kidney disease. Curr Opin Pediatr. 27(2):186-92, 2015
                                      4. Jahnukainen T et al: Long-term pulmonary function in children with recessive polycystic kidney disease. Arch Dis Child. ePub, 2015
                                      5. Ling G et al: Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD). Clin Nephrol. 83(5):297-300, 2015
                                      6. Carter SA et al: Four pediatric patients with autosomal recessive polycystic kidney disease developed new-onset diabetes after renal transplantation. Pediatr Transplant. 18(7):698-705, 2014
                                      7. Frank V et al: Transcriptional complexity in autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol. 9(10):1729-36, 2014
                                      8. Guay-Woodford LM: Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases. J Pediatr Genet. 3(2):89-101, 2014
                                      9. Luft FC: Aberrant transcriptional regulation could explain phenotypic variability in autosomal recessive polycystic kidney disease. J Mol Med (Berl). 92(10):1011-4, 2014
                                      10. Riella C et al: Therapeutic advances in the treatment of polycystic kidney disease. Nephron Clin Pract. 128(3-4):297-302, 2014
                                      11. 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
                                      12. Verghese P et al: Neonatal polycystic kidney disease. Clin Perinatol. 41(3):543-60, 2014
                                      13. Wen JW et al: Kidney and liver transplantation in children with fibrocystic liver-kidney disease: data from the US Scientific Registry of Transplant Recipients: 1990-2010. Pediatr Transplant. 18(7):726-32, 2014
                                      14. Deltas C et al: Cystic diseases of the kidney: molecular biology and genetics. Arch Pathol Lab Med. 134(4):569-82, 2010
                                      15. Denamur E et al: Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Kidney Int. 77(4):350-8, 2010
                                      16. Gigarel N et al: Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. Reprod Biomed Online. 2008 Jan;16(1):152-8. Erratum in: Reprod Biomed Online. 16(3):463, 2008
                                      17. Liu YP et al: Autosomal recessive polycystic kidney disease: appearance on fetal MRI. Pediatr Radiol. 36(2):169, 2006
                                      18. Okumura M et al: Unusual sonographic features of ARPKD. Prenat Diagn. 26(4):330-2, 2006
                                      19. 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
                                      20. Cassart M et al: Complementary role of MRI after sonography in assessing bilateral urinary tract anomalies in the fetus. AJR Am J Roentgenol. 182(3):689-95, 2004
                                      21. Harris PC et al: Molecular genetics of autosomal recessive polycystic kidney disease. Mol Genet Metab. 81(2):75-85, 2004
                                      22. Guay-Woodford LM et al: Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 111(5 Pt 1):1072-80, 2003
                                      23. 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

                                            • Clinical Issues

                                              • Diagnostic Checklist

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Autosomal recessive polycystic kidney disease (ARPKD)

                                                • Definitions

                                                  • ARPKD is 1 of hepatorenal fibrocystic diseases/syndromes
                                                    • New nomenclature to encompass full spectrum of disease
                                                    • Underlying pathology is ciliopathy
                                                  • Single gene disorder resulting in bilateral, symmetric, cystic renal disease + hepatic fibrosis
                                                    • Involves distal convoluted tubules + collecting ducts (i.e., medulla), cortex is 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. Banks N et al: Pregnancy in autosomal recessive polycystic kidney disease. Arch Gynecol Obstet. 291(3):705-8, 2015
                                                                          2. Chandar J et al: Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney? Pediatr Nephrol. 30(8):1233-42, 2015
                                                                          3. Hoyer PF: Clinical manifestations of autosomal recessive polycystic kidney disease. Curr Opin Pediatr. 27(2):186-92, 2015
                                                                          4. Jahnukainen T et al: Long-term pulmonary function in children with recessive polycystic kidney disease. Arch Dis Child. ePub, 2015
                                                                          5. Ling G et al: Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD). Clin Nephrol. 83(5):297-300, 2015
                                                                          6. Carter SA et al: Four pediatric patients with autosomal recessive polycystic kidney disease developed new-onset diabetes after renal transplantation. Pediatr Transplant. 18(7):698-705, 2014
                                                                          7. Frank V et al: Transcriptional complexity in autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol. 9(10):1729-36, 2014
                                                                          8. Guay-Woodford LM: Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases. J Pediatr Genet. 3(2):89-101, 2014
                                                                          9. Luft FC: Aberrant transcriptional regulation could explain phenotypic variability in autosomal recessive polycystic kidney disease. J Mol Med (Berl). 92(10):1011-4, 2014
                                                                          10. Riella C et al: Therapeutic advances in the treatment of polycystic kidney disease. Nephron Clin Pract. 128(3-4):297-302, 2014
                                                                          11. 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
                                                                          12. Verghese P et al: Neonatal polycystic kidney disease. Clin Perinatol. 41(3):543-60, 2014
                                                                          13. Wen JW et al: Kidney and liver transplantation in children with fibrocystic liver-kidney disease: data from the US Scientific Registry of Transplant Recipients: 1990-2010. Pediatr Transplant. 18(7):726-32, 2014
                                                                          14. Deltas C et al: Cystic diseases of the kidney: molecular biology and genetics. Arch Pathol Lab Med. 134(4):569-82, 2010
                                                                          15. Denamur E et al: Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Kidney Int. 77(4):350-8, 2010
                                                                          16. Gigarel N et al: Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. Reprod Biomed Online. 2008 Jan;16(1):152-8. Erratum in: Reprod Biomed Online. 16(3):463, 2008
                                                                          17. Liu YP et al: Autosomal recessive polycystic kidney disease: appearance on fetal MRI. Pediatr Radiol. 36(2):169, 2006
                                                                          18. Okumura M et al: Unusual sonographic features of ARPKD. Prenat Diagn. 26(4):330-2, 2006
                                                                          19. 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
                                                                          20. Cassart M et al: Complementary role of MRI after sonography in assessing bilateral urinary tract anomalies in the fetus. AJR Am J Roentgenol. 182(3):689-95, 2004
                                                                          21. Harris PC et al: Molecular genetics of autosomal recessive polycystic kidney disease. Mol Genet Metab. 81(2):75-85, 2004
                                                                          22. Guay-Woodford LM et al: Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 111(5 Pt 1):1072-80, 2003
                                                                          23. Lonergan GJ et al: Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation. Radiographics. 20(3):837-55, 2000