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Medullary Cystic Diseases
Ghaneh Fananapazir, MD, FSAR, FSRU, FSABI; Michael P. Federle, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Nephronophthisis (NPHP)
              • Autosomal dominant tubulointerstitial kidney disease (ADTKD)
            • Synonyms

              • NPHP complex
              • Medullary cystic kidney disease, types 1 and 2
              • Familial juvenile NPHP
              • 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

                                  • Treatment

                                    Selected References

                                    1. Whang G et al: Ultrasound, computed tomography, and magnetic resonance imaging in a patient with medullary cystic kidney disease. Ultrasound Q. 34(4):288-91, 2018
                                    2. Srivastava S et al: Many genes-one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders. Front Pediatr. 5:287, 2017
                                    3. Katabathina VS et al: Adult renal cystic disease: a genetic, biological, and developmental primer. Radiographics. 30(6):1509-23, 2010
                                    4. Hildebrandt F et al: Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 20(1):23-35, 2009
                                    5. Simms RJ et al: Nephronophthisis. Eur J Hum Genet. 17(4):406-16, 2009
                                    6. 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
                                    7. Rohatgi R: Clinical manifestations of hereditary cystic kidney disease. Front Biosci. 13:4175-97, 2008
                                    8. 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
                                    9. 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
                                    10. Hildebrandt F et al: Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 18(6):1855-71, 2007
                                    11. O'Toole JF et al: Mutational analysis in 119 families with nephronophthisis. Pediatr Nephrol. 22(3):366-70, 2007
                                    12. Badano JL et al: The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet. 7:125-48, 2006
                                    13. 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
                                    14. 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
                                    15. Saunier S et al: Nephronophthisis. Curr Opin Genet Dev. 15(3):324-31, 2005
                                    16. 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

                                              • Abbreviations

                                                • Nephronophthisis (NPHP)
                                                • Autosomal dominant tubulointerstitial kidney disease (ADTKD)
                                              • Synonyms

                                                • NPHP complex
                                                • Medullary cystic kidney disease, types 1 and 2
                                                • Familial juvenile NPHP
                                                • 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

                                                                    • Treatment

                                                                      Selected References

                                                                      1. Whang G et al: Ultrasound, computed tomography, and magnetic resonance imaging in a patient with medullary cystic kidney disease. Ultrasound Q. 34(4):288-91, 2018
                                                                      2. Srivastava S et al: Many genes-one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders. Front Pediatr. 5:287, 2017
                                                                      3. Katabathina VS et al: Adult renal cystic disease: a genetic, biological, and developmental primer. Radiographics. 30(6):1509-23, 2010
                                                                      4. Hildebrandt F et al: Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 20(1):23-35, 2009
                                                                      5. Simms RJ et al: Nephronophthisis. Eur J Hum Genet. 17(4):406-16, 2009
                                                                      6. 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
                                                                      7. Rohatgi R: Clinical manifestations of hereditary cystic kidney disease. Front Biosci. 13:4175-97, 2008
                                                                      8. 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
                                                                      9. 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
                                                                      10. Hildebrandt F et al: Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 18(6):1855-71, 2007
                                                                      11. O'Toole JF et al: Mutational analysis in 119 families with nephronophthisis. Pediatr Nephrol. 22(3):366-70, 2007
                                                                      12. Badano JL et al: The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet. 7:125-48, 2006
                                                                      13. 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
                                                                      14. 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
                                                                      15. Saunier S et al: Nephronophthisis. Curr Opin Genet Dev. 15(3):324-31, 2005
                                                                      16. Meier P et al: Imaging medullary cystic kidney disease with magnetic resonance. Am J Kidney Dis. 42(1):E5-10, 2003