eMedicine Specialties > Nephrology > Cystic Diseases of the Kidney

Polycystic Kidney Disease: Follow-up

Author: Roser Torra, MD, PhD, Consulting Staff, Hereditary Renal Diseases, Department of Nephrology, Fundacio Puigvert, Spain
Contributor Information and Disclosures

Updated: Sep 17, 2009

Follow-up

Further Inpatient Care

  • Admit patients with cyst infections.
  • Admit patients for surgical procedures.

Further Outpatient Care

  • Carefully monitor blood pressure and renal function.
  • Perform an ultrasonogram of the kidneys every 1-2 years.

Inpatient & Outpatient Medications

  • Institute antihypertensive therapy with ACE inhibitors or angiotensin II receptor antagonist blockers. In patients with advanced renal disease, ACE inhibitors and/or angiotensin II receptor antagonist blockers can exacerbate renal failure or increase serum potassium; therefore, regularly monitor use with serum chemistry values.
  • If renal failure is present, drugs directed towards normalization of electrolyte levels are necessary.
  • Avoid NSAIDs because they can worsen renal function and potentiate hyperkalemia.
  • Hematuria is frequent among patients with ADPKD, usually resulting from cyst rupture or stone passage. Instruct the patient to drink large amounts of water, to rest, and to take a pain killer if necessary. Hospitalization is necessary if the patient is still bleeding after several days or if the amount of blood is substantial.

Transfer

  • Surgical interventions
  • Invasive procedures

Complications

  • ESRD - This is the most frequent complication of ADPKD; 50% of patients require renal replacement therapy by age 60 years.
  • Hypertension
    • The cause of an early rise in blood pressure remains controversial.
    • The rise in blood pressure is likely secondary to renal damage by cysts. A direct relationship exists between the volume of the kidneys and the severity of the hypertension.
    • The prevalence of hypertension increases with age, with a rate of approximately 85% when patients enter ESRD.
  • Extrarenal cysts
    • The presence of extrarenal cysts in the liver, pancreas, and spleen is a well-known feature of polycystic liver disease, which is a frequent condition in persons with ADPKD.
    • Polycystic liver disease belongs to a family of liver diseases characterized by an overgrowth of biliary epithelium and supportive connective tissue. It is characterized by multiple cysts that may be microscopic or can occupy most of the abdominal cavity. Liver size may range from normal to enlarged.
    • Women are more likely to have more and larger hepatic cysts than men; this correlates with estrogen exposure and increases with gravidity in women. Liver size in massive polycystic liver disease tends to stabilize after menopause.
    • Hepatic cysts occur in almost 50% of affected patients, are more common in women, and are exceptional in children with ADPKD.
    • The frequency of liver cysts increases with age; cysts occur in approximately 20% of patients during the third decade of life and in 75% during the seventh decade of life.
    • The presence of liver cysts does not involve hepatic failure.
    • Pain and infection are the only symptoms that occur from the presence of hepatic cysts, and most frequently, cysts are asymptomatic.
    • Massive polycystic liver disease may manifest predominantly in women, and portal hypertension (ie, ascites, esophageal varices) may occur in these patients.
    • The enlarged liver may cause malnutrition. These patients may need a partial resection of the liver or hepatic transplantation.
    • Bilateral nephrectomy in patients with massively enlarged livers may cause portal hypertension and severe ascites.
    • Pancreatic cysts occur at a rate of 9% in patients older than 20 years.
  • Cerebral aneurysms
    • Cerebral aneurysms are among the most serious complications of ADPKD; they occur in 4-10% of patients with ADPKD. (In the aforementioned study by Rahman et al, the mortality rate from cerebrovascular events was approximately 7%;1 see Morbidity/Mortality.)
    • Rupture usually occurs in patients younger than 50 years who have uncontrolled hypertension; however, a stroke from hypertension and intracerebral hemorrhage is more common.
    • There is no relationship between the risk of rupture and the severity of renal disease.
  • Colonic diverticula - Patients with ADPKD develop colonic diverticula, probably from altered connective tissue, at an estimated rate of 80%. However, this rate has not been demonstrated to be higher than the rate among other patients on dialysis.
  • Mitral valve prolapse - Patients with ADPKD occasionally develop mitral valve prolapse at a rate that is probably no higher than that of the normal population.
  • Nephrolithiasis - This occurs in 20-30% of patients with ADPKD. Consider this condition in patients with acute pain and hematuria. Unlike the most common form of kidney stones, calcium oxalate, uric acid stones form in as many as 50% of patients with ADPKD. Establishing a diagnosis by ultrasonogram is often difficult; therefore, an intravenous pyelogram or a CT scan is preferred because of the presence of large cysts.
  • Metabolic abnormalities (eg, decreased urinary citrate) - These contribute to uric acid stone formation.

Prognosis

  • Half of all patients with ADPKD require renal replacement therapy by age 60 years. Risk factors for progression include PKD1 genotype, large kidneys, several episodes of gross hematuria, severe and frequent kidney infections, hypertension, multiple pregnancies, black racial background, and male sex. The presence of more than one risk factor increases the risk of progression to ESRD.
  • The 2 forms of ADPKD are ADPKD1 and ADPKD2. Although they share similar clinical features, renal prognosis is strikingly different. Studies confirm that ADPKD2 is a milder disease, based on the age of onset of ESRD. The median age of renal survival for those with ADPKD2 is 68 years, which is significantly older than for those with ADPKD1 where the median age of renal survival is 53 years. Although ADPKD2 is milder than ADPKD1, it has an overall impact on survival and shortens life expectancy.

Patient Education

  • Ensure that patients are aware that this disease is hereditary and that their children have a 50% chance of acquiring the disease. Although several treatments are being tested, this disease currently has no cure. Only interventions that slow the progression of renal disease (eg, adequate blood pressure control) are of benefit. Hopefully, effective specific therapy will be available in a few years.
  • Prenatal diagnosis is available through DNA linkage studies if enough family members cooperate or through a mutation search. Suggest that family members who are not screened for ADPKD have annual blood pressure checks and urine screenings for hematuria.
  • For excellent patient education resources, visit eMedicine's Kidneys and Urinary System Center. Also, see eMedicine's patient education articles Blood in the Urine, Chronic Kidney Disease, and Kidney Transplant.

Miscellaneous

Medicolegal Pitfalls

  • Failure to inform patients that the disease is hereditary
  • Failure to inform patients that they may eventually develop ESRD
  • Performing genetic testing without informed consent
 


More on Polycystic Kidney Disease

Overview: Polycystic Kidney Disease
Differential Diagnoses & Workup: Polycystic Kidney Disease
Treatment & Medication: Polycystic Kidney Disease
Follow-up: Polycystic Kidney Disease
Multimedia: Polycystic Kidney Disease
References
Further Reading
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References

  1. Rahman E, Niaz FA, Al-Suwaida A, et al. Analysis of causes of mortality in patients with autosomal dominant polycystic kidney disease: A single center study. Saudi J Kidney Dis Transpl. Sep-Oct 2009;20(5):806-10. [Medline].

  2. Schrier RW. Renal volume, renin-angiotensin-aldosterone system, hypertension, and left ventricular hypertrophy in patients with autosomal dominant polycystic kidney disease. J Am Soc Nephrol. Sep 2009;20(9):1888-93. [Medline].

  3. Cadnapaphornchai MA, McFann K, Strain JD, et al. Prospective change in renal volume and function in children with ADPKD. Clin J Am Soc Nephrol. Apr 2009;4(4):820-9. [Medline].

  4. Doulton TW, Saggar-Malik AK, He FJ, Carney C, Markandu ND, Sagnella GA, et al. The effect of sodium and angiotensin-converting enzyme inhibition on the classic circulating renin-angiotensin system in autosomal-dominant polycystic kidney disease patients. J Hypertens. May 2006;24(5):939-45. [Medline].

  5. Sawicki M, Walecka A, Rozanski J, et al. Doppler sonography measurements of renal vascular resistance in autosomal-dominant polycystic kidney disease. Med Sci Monit. Aug 2009;15(8):MT101-4. [Medline].

  6. Ravine D, Gibson RN, Walker RG, et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet. Apr 2 1994;343(8901):824-7. [Medline].

  7. Sallee M, Rafat C, Zahar JR, et al. Cyst infections in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. Jul 2009;4(7):1183-9. [Medline].

  8. Arnold HL, Harrison SA. New advances in evaluation and management of patients with polycystic liver disease. Am J Gastroenterol. Nov 2005;100(11):2569-82. [Medline].

  9. Chauveau D, Pirson Y, Verellen-Dumoulin C, et al. Intracranial aneurysms in autosomal dominant polycystic kidney disease. Kidney Int. Apr 1994;45(4):1140-6. [Medline].

  10. Gabow PA. Autosomal dominant polycystic kidney disease. N Engl J Med. Jul 29 1993;329(5):332-42. [Medline].

  11. Grantham JJ, Chapman AB, Torres VE. Volume progression in autosomal dominant polycystic kidney disease: the major factor determining clinical outcomes. Clin J Am Soc Nephrol. Jan 2006;1(1):148-57. [Medline].

  12. Grantham JJ, Torres VE, Chapman AB, et al. Volume progression in polycystic kidney disease. N Engl J Med. May 18 2006;354(20):2122-30. [Medline]. [Full Text].

  13. Hateboer N, v Dijk MA, Bogdanova N, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet. Jan 9 1999;353(9147):103-7. [Medline].

  14. Hossack KF, Leddy CL, Johnson AM, et al. Echocardiographic findings in autosomal dominant polycystic kidney disease. N Engl J Med. Oct 6 1988;319(14):907-12. [Medline].

  15. Huston J 3rd, Torres VE, Wiebers DO, et al. Follow-up of intracranial aneurysms in autosomal dominant polycystic kidney disease by magnetic resonance angiography. J Am Soc Nephrol. Oct 1996;7(10):2135-41. [Medline].

  16. Masoumi A, Reed-Gitomer B, Kelleher C, et al. Potential pharmacological interventions in polycystic kidney disease. Drugs. 2007;67(17):2495-510. [Medline].

  17. Ong AC, Wheatley DN. Polycystic kidney disease--the ciliary connection. Lancet. Mar 1 2003;361(9359):774-6. [Medline].

  18. Parfrey PS, Bear JC, Morgan J, et al. The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med. Oct 18 1990;323(16):1085-90. [Medline].

  19. Pei Y. Diagnostic approach in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. Sep 2006;1(5):1108-14. [Medline].

  20. Qian F, Watnick TJ, Onuchic LF, et al. The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell. Dec 13 1996;87(6):979-87. [Medline].

  21. Ramos A, Torres VE, Holley KE, et al. The liver in autosomal dominant polycystic kidney disease. Implications for pathogenesis. Arch Pathol Lab Med. Feb 1990;114(2):180-4. [Medline].

  22. Rossetti S, Harris PC. Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. J Am Soc Nephrol. May 2007;18(5):1374-80. [Medline].

  23. Russell RT, Pinson CW. Surgical management of polycystic liver disease. World J Gastroenterol. Oct 14 2007;13(38):5052-9. [Medline].

  24. Schrier RW. Optimal care of autosomal dominant polycystic kidney disease patients. Nephrology (Carlton). Apr 2006;11(2):124-30. [Medline].

  25. Tahvanainen E, Tahvanainen P, Kääriäinen H, et al. Polycystic liver and kidney diseases. Ann Med. 2005;37(8):546-55. [Medline].

  26. Torra R, Badenas C, Darnell A, et al. Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. J Am Soc Nephrol. Oct 1996;7(10):2142-51. [Medline].

  27. Torres VE. Vasopressin antagonists in polycystic kidney disease. Kidney Int. Nov 2005;68(5):2405-18. [Medline]. [Full Text].

  28. Torres VE, Harris PC. Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases. Nat Clin Pract Nephrol. Jan 2006;2(1):40-55; quiz 55. [Medline]. [Full Text].

  29. Torres VE, Harris PC. Polycystic kidney disease: genes, proteins, animal models, disease mechanisms and therapeutic opportunities. J Intern Med. Jan 2007;261(1):17-31. [Medline].

  30. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. Apr 14 2007;369(9569):1287-301. [Medline].

  31. Walz G. Therapeutic approaches in autosomal dominant polycystic kidney disease (ADPKD): is there light at the end of the tunnel?. Nephrol Dial Transplant. Jul 2006;21(7):1752-7. [Medline].

  32. Weimbs T. Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair?. Cell Cycle. Nov 1 2006;5(21):2425-9. [Medline].

  33. Wilson PD. Polycystic kidney disease. N Engl J Med. Jan 8 2004;350(2):151-64. [Medline].

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Keywords

polycystic kidney disease, PKD, polycystic kidney, kidney cyst, kidney cysts, kidney disease, renal cyst, renal cysts, autosomal dominant polycystic kidney disease, ADPKD, adult polycystic kidney disease, polycystic kidney disease type 1, PKD1, polycystic kidney disease type 2, PKD2, kidney failure, renal failure, dialysis-dependent kidney disease, end-stage renal disease, ESRD, end-stage kidney disease, ESKD, renal transplantation, renal transplant, kidney transplantation, kidney transplant, hemodialysis, peritoneal dialysis, ADPKD type 1, ADPKD1, ADPKD type 2, ADPKD2

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Contributor Information and Disclosures

Author

Roser Torra, MD, PhD, Consulting Staff, Hereditary Renal Diseases, Department of Nephrology, Fundacio Puigvert, Spain
Roser Torra, MD, PhD is a member of the following medical societies: American Society of Nephrology and International Society of Nephrology
Disclosure: Nothing to disclose.

Medical Editor

Laura L Mulloy, DO, FACP, Professor of Medicine, Chief, Section of Nephrology, Hypertension and Transplantation Medicine, Glover/Mealing Eminent Scholar Chair in Immunology, Medical College of Georgia
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

George R Aronoff, MD, Director, Professor, Departments of Internal Medicine and Pharmacology, Section of Nephrology, Kidney Disease Program, University of Louisville School of Medicine
George R Aronoff, MD is a member of the following medical societies: American Federation for Medical Research, American Society of Nephrology, Kentucky Medical Association, and National Kidney Foundation
Disclosure: Nothing to disclose.

CME Editor

Rebecca J Schmidt, DO, FACP, FASN, Professor of Medicine, Section Chief, Department of Medicine, Section of Nephrology, West Virginia University School of Medicine
Rebecca J Schmidt, DO, FACP, FASN is a member of the following medical societies: American College of Osteopathic Internists, American College of Physicians, American Medical Association, American Society of Nephrology, International Society of Nephrology, National Kidney Foundation, Renal Physicians Association, and West Virginia State Medical Association
Disclosure: Abbott Grant/research funds Speaking and teaching; Genzyme Honoraria Consulting; Amgen Honoraria Speaking and teaching; Ortho Biotech Honoraria Speaking and teaching

Chief Editor

Vecihi Batuman, MD, FACP, FASN, Professor of Medicine, Section of Nephrology-Hypertension, Tulane University School of Medicine; Chief, Medicine Service, Southeast Louisiana Veterans Health Care System
Vecihi Batuman, MD, FACP, FASN is a member of the following medical societies: American College of Physicians, American Society of Hypertension, American Society of Nephrology, and International Society of Nephrology
Disclosure: Nothing to disclose.

 
 
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