Polycystic kidney disease natural history

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: M. Khurram Afzal, MD [2], Serge Korjian, Yazan Daaboul

Overview

The earliest clinical signs of disease in patients with ADPKD include impaired renal concentrating capacity and hypertension. Other signs include flank pain, nephrolithiasis and urinary tract infections. In general half of the patients diagnosed with ADPKD will progress to ESRD by age 60. PDK1 mutants usually progress faster than PDK2 mutants. Factors associated with worse renal outcome include early age at diagnosis, male gender, uncontrolled hypertension, left ventricular hypertrophy, and cystic liver. Extra-renal manifestations in ADPKD include hepatic cysts usually more prevalent in women and with advancing age and declining renal function. Cysts can also be seen in the seminal vesicles, pancreas, and arachnoid membrane. Furthermore, the development of intracranial aneurysms can be a lethal complication in ADPKD patients whose risk is closely linked to the family history of aneurysms. Mitral valve prolapse is also a common cardiac manifestation seen in 25% of patients. Most cases of ARPKD present in the neonatal period with some disease findings detected on prenatal ultrasound. Most feared and common complication of ARPKD is pulmonary hypoplasia. Half of ARPKD patients usually progress to ESRD by age of 10. The prognosis of ARPKD improves in patients who survive the first few months of life. Survival at 15 years for patients of ARPKD ranges from 50% - 80%.

Natural History, Complications, and Prognosis

Natural History

Autosomal dominant polycystic kidney disease (ADPKD):

  • The earliest detectable functional aberration seen in patients with ADPKD is impaired concentrating capacity with a suboptimal increase in urinary osmolality following water deprivation.[1]
  • The second early manifestation of disease is hypertension. Up to 75% of patients with ADPKD on imaging without any renal insufficiency are hypertensive.[2]
  • Even in young patients, 50% of those aged 20-34 years are hypertensive despite normal renal function.[3]
  • Overt clinical signs and symptoms of renal disease usually appear during the fourth or fifth decade.[4]

Autosomal recessive polycystic kidney disease (ARPKD):

  • Most affected individuals present in the neonatal period with some disease findings detected in prenatal obstetric ultrasounds.[5]
  • The most common initial findings in ARPKD patients involve abnormal renal structure and function.[6]
  • Approximately 30% of patients have no lab abnormalities at presentation.

Complications

Prognosis

Autosomal dominant polycystic kidney disease (ADPKD):

Autosomal recessive polycystic kidney disease (ARPKD):

References

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  2. Gabow PA (1990). "Autosomal dominant polycystic kidney disease--more than a renal disease". Am J Kidney Dis. 16 (5): 403–13. PMID 2239929.
  3. Kelleher CL, McFann KK, Johnson AM, Schrier RW (2004). "Characteristics of hypertension in young adults with autosomal dominant polycystic kidney disease compared with the general U.S. population". Am J Hypertens. 17 (11 Pt 1): 1029–34. doi:10.1016/j.amjhyper.2004.06.020. PMID 15533729.
  4. 4.0 4.1 4.2 4.3 Fick GM, Gabow PA (1994). "Natural history of autosomal dominant polycystic kidney disease". Annu Rev Med. 45: 23–9. doi:10.1146/annurev.med.45.1.23. PMID 8198379.
  5. Sweeney WE, Avner ED (2006). "Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)". Cell Tissue Res. 326 (3): 671–85. doi:10.1007/s00441-006-0226-0. PMID 16767405.
  6. Zerres K, Rudnik-Schöneborn S, Steinkamm C, Becker J, Mücher G (1998). "Autosomal recessive polycystic kidney disease". J Mol Med (Berl). 76 (5): 303–9. PMID 9587064.
  7. Schwab SJ, Bander SJ, Klahr S (1987). "Renal infection in autosomal dominant polycystic kidney disease". Am J Med. 82 (4): 714–8. PMID 3565428.
  8. 8.0 8.1 Gabow PA, Johnson AM, Kaehny WD, Manco-Johnson ML, Duley IT, Everson GT (1990). "Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease". Hepatology. 11 (6): 1033–7. PMID 2365280‎ Check |pmid= value (help).
  9. Bae KT, Zhu F, Chapman AB, Torres VE, Grantham JJ, Guay-Woodford LM; et al. (2006). "Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort". Clin J Am Soc Nephrol. 1 (1): 64–9. doi:10.2215/CJN.00080605. PMID 17699192‎ Check |pmid= value (help).
  10. 10.0 10.1 Torres VE, Harris PC, Pirson Y (2007). "Autosomal dominant polycystic kidney disease". Lancet. 369 (9569): 1287–301. doi:10.1016/S0140-6736(07)60601-1. PMID 17434405.
  11. Torres VE, Cai Y, Chen X, Wu GQ, Geng L, Cleghorn KA; et al. (2001). "Vascular expression of polycystin-2". J Am Soc Nephrol. 12 (1): 1–9. PMID 11134244‎ Check |pmid= value (help).
  12. Pirson Y, Chauveau D, Torres V (2002). "Management of cerebral aneurysms in autosomal dominant polycystic kidney disease". J Am Soc Nephrol. 13 (1): 269–76. PMID 11752048.
  13. Hossack KF, Leddy CL, Johnson AM, Schrier RW, Gabow PA (1988). "Echocardiographic findings in autosomal dominant polycystic kidney disease". N Engl J Med. 319 (14): 907–12. doi:10.1056/NEJM198810063191404. PMID 3419455.
  14. Zerres K, Rudnik-Schöneborn S, Steinkamm C, Becker J, Mücher G (1998). "Autosomal recessive polycystic kidney disease". J Mol Med (Berl). 76 (5): 303–9. PMID 9587064.
  15. Sweeney WE, Avner ED (2006). "Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)". Cell Tissue Res. 326 (3): 671–85. doi:10.1007/s00441-006-0226-0. PMID 16767405.
  16. Guay-Woodford LM, Desmond RA (2003). "Autosomal recessive polycystic kidney disease: the clinical experience in North America". Pediatrics. 111 (5 Pt 1): 1072–80. PMID 12728091.
  17. Hateboer N, v Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL; et al. (1999). "Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group". Lancet. 353 (9147): 103–7. PMID 10023895.
  18. Gabow PA, Duley I, Johnson AM (1992). "Clinical profiles of gross hematuria in autosomal dominant polycystic kidney disease". Am J Kidney Dis. 20 (2): 140–3. PMID 1496966.
  19. Gabow PA, Johnson AM, Kaehny WD, Kimberling WJ, Lezotte DC, Duley IT; et al. (1992). "Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease". Kidney Int. 41 (5): 1311–9. PMID 1614046.
  20. Lederman ED, McCoy G, Conti DJ, Lee EC (2000). "Diverticulitis and polycystic kidney disease". Am Surg. 66 (2): 200–3. PMID 10695753‎ Check |pmid= value (help).
  21. Guay-Woodford LM, Desmond RA (2003). "Autosomal recessive polycystic kidney disease: the clinical experience in North America". Pediatrics. 111 (5 Pt 1): 1072–80. PMID 12728091.
  22. Guay-Woodford LM, Desmond RA (2003). "Autosomal recessive polycystic kidney disease: the clinical experience in North America". Pediatrics. 111 (5 Pt 1): 1072–80. PMID 12728091.
  23. Sweeney WE, Avner ED (2006). "Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)". Cell Tissue Res. 326 (3): 671–85. doi:10.1007/s00441-006-0226-0. PMID 16767405.
  24. Zerres K, Rudnik-Schöneborn S, Steinkamm C, Becker J, Mücher G (1998). "Autosomal recessive polycystic kidney disease". J Mol Med (Berl). 76 (5): 303–9. PMID 9587064.
  25. Fonck C, Chauveau D, Gagnadoux MF, Pirson Y, Grünfeld JP (2001). "Autosomal recessive polycystic kidney disease in adulthood". Nephrol Dial Transplant. 16 (8): 1648–52. PMID 11477168.

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