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Medullary Cystic Kidney Disease
Michael P. Federle, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Nephronophthisis (NPH) or nephronophthisis complex
              • Medullary cystic kidney disease (MCKD), types 1 and 2
              • Familial juvenile nephronophthisis
              • Cystic disease of renal medulla
            • Definitions

              • Group of related diseases with progressive renal tubular atrophy, secondary glomerulosclerosis, and medullary cyst formation

            IMAGING

            • General Features

              • Imaging Recommendations

                • CT Findings

                  • MR Findings

                    • Ultrasonographic Findings

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      Selected References

                                      1. Katabathina VS et al: Adult renal cystic disease: a genetic, biological, and developmental primer. Radiographics. 30(6):1509-23, 2010
                                      2. Hildebrandt F et al: Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 20(1):23-35, 2009
                                      3. Simms RJ et al: Nephronophthisis. Eur J Hum Genet. 17(4):406-16, 2009
                                      4. Hamiwka LA et al: Outcomes of kidney transplantation in children with nephronophthisis: an analysis of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry. Pediatr Transplant. 12(8):878-82, 2008
                                      5. Rohatgi R: Clinical manifestations of hereditary cystic kidney disease. Front Biosci. 13:4175-97, 2008
                                      6. Tsukamoto T et al: Nephronophthisis complicated with hepatic fibrosis: an autopsy case with rupture of the splenic artery after renal transplantation. Clin Exp Nephrol. 12(1):82-8, 2008
                                      7. Delous M et al: The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 39(7):875-81, 2007
                                      8. Hildebrandt F et al: Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 18(6):1855-71, 2007
                                      9. O'Toole JF et al: Mutational analysis in 119 families with nephronophthisis. Pediatr Nephrol. 22(3):366-70, 2007
                                      10. Badano JL et al: The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet. 7:125-48, 2006
                                      11. Bollée G et al: Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults. Nephrol Dial Transplant. 21(9):2660-3, 2006
                                      12. Caridi G et al: Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association. Kidney Int. 70(7):1342-7, 2006
                                      13. Saunier S et al: Nephronophthisis. Curr Opin Genet Dev. 15(3):324-31, 2005
                                      14. Meier P et al: Imaging medullary cystic kidney disease with magnetic resonance. Am J Kidney Dis. 42(1):E5-10, 2003
                                      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

                                                • Synonyms

                                                  • Nephronophthisis (NPH) or nephronophthisis complex
                                                  • Medullary cystic kidney disease (MCKD), types 1 and 2
                                                  • Familial juvenile nephronophthisis
                                                  • Cystic disease of renal medulla
                                                • Definitions

                                                  • Group of related diseases with progressive renal tubular atrophy, secondary glomerulosclerosis, and medullary cyst formation

                                                IMAGING

                                                • General Features

                                                  • Imaging Recommendations

                                                    • CT Findings

                                                      • MR Findings

                                                        • Ultrasonographic Findings

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Gross Pathologic & Surgical Features

                                                                • Microscopic Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          Selected References

                                                                          1. Katabathina VS et al: Adult renal cystic disease: a genetic, biological, and developmental primer. Radiographics. 30(6):1509-23, 2010
                                                                          2. Hildebrandt F et al: Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 20(1):23-35, 2009
                                                                          3. Simms RJ et al: Nephronophthisis. Eur J Hum Genet. 17(4):406-16, 2009
                                                                          4. Hamiwka LA et al: Outcomes of kidney transplantation in children with nephronophthisis: an analysis of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry. Pediatr Transplant. 12(8):878-82, 2008
                                                                          5. Rohatgi R: Clinical manifestations of hereditary cystic kidney disease. Front Biosci. 13:4175-97, 2008
                                                                          6. Tsukamoto T et al: Nephronophthisis complicated with hepatic fibrosis: an autopsy case with rupture of the splenic artery after renal transplantation. Clin Exp Nephrol. 12(1):82-8, 2008
                                                                          7. Delous M et al: The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 39(7):875-81, 2007
                                                                          8. Hildebrandt F et al: Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 18(6):1855-71, 2007
                                                                          9. O'Toole JF et al: Mutational analysis in 119 families with nephronophthisis. Pediatr Nephrol. 22(3):366-70, 2007
                                                                          10. Badano JL et al: The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet. 7:125-48, 2006
                                                                          11. Bollée G et al: Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults. Nephrol Dial Transplant. 21(9):2660-3, 2006
                                                                          12. Caridi G et al: Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association. Kidney Int. 70(7):1342-7, 2006
                                                                          13. Saunier S et al: Nephronophthisis. Curr Opin Genet Dev. 15(3):324-31, 2005
                                                                          14. Meier P et al: Imaging medullary cystic kidney disease with magnetic resonance. Am J Kidney Dis. 42(1):E5-10, 2003