Autosomal Dominant Polycystic Kidney Disease



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Am Fam Physician. 2014 Sep 1;90(5):303-307.

This clinical content conforms to AAFP criteria for continuing medical education (CME). See the CME Quiz Questions.

  Patient information: A handout on this topic is available at http://familydoctor.org/familydoctor/en/diseases-conditions/polycystic-kidney-disease.html.

Author disclosure: No relevant financial affiliations.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease. Enlarging cysts within the kidneys are the clinical hallmark of the disease. Renal manifestations include varying degrees of kidney injury, urinary tract infections, kidney stones, and hematuria. Extrarenal manifestations can include pain, hypertension, left ventricular hypertrophy, hepatic cysts, intracranial aneurysm, diverticulosis, and abdominal and inguinal hernias. The progression of ADPKD cannot be reversed with current treatment modalities; therefore, therapies target the resulting clinical manifestations. Early detection and management of hypertension are important to delay the progression of renal dysfunction and development of cardiovascular complications. Pain management includes evaluation of concomitant illnesses, use of analgesics, and adjuvant therapy. Fluoroquinolones may be the most useful class of antibiotics for the treatment of urinary tract infections because of their lipophilic properties and bactericidal action against gram-negative pathogens. Nephrolithiasis is twice as common in persons with ADPKD compared with the general population and is suggested by flank pain with or without hematuria. Cystic hemorrhages usually resolve within one week, although microscopic hematuria may still be present. Because of the proliferative effect of estrogen on hepatic cysts, oral contraceptives containing estrogen and menopausal estrogen therapy should be administered at the lowest effective dose or avoided in patients with ADPKD. Intracranial aneurysms are at least twice as common in patients with ADPKD than in the general population. Renal ultrasonography is the diagnostic modality of choice to screen at-risk individuals for ADPKD.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease. ADPKD affects approximately 300,000 to 600,000 individuals nationwide without gender or racial predisposition,1 and it accounts for approximately 4.7% of cases of end-stage renal disease in the United States.2 It is a systemic disorder that causes cysts to develop in the kidneys (Figure 1) and in other areas of the body, leading to many clinical manifestations.

SORT: KEY RECOMMENDATIONS FOR PRACTICE

Clinical recommendation Evidence rating References

Angiotensin-converting enzyme inhibitors and angiotensin receptor blockers are recommended for initial hypertension management in patients with ADPKD.

C

6, 1113

In patients with ADPKD who develop chronic kidney disease, the blood pressure goal is less than 140/90 mm Hg.

C

13

Fluoroquinolones, third-generation cephalosporins, and trimethoprim/sulfamethoxazole are effective for treating urinary tract infections and infected renal cysts in patients with ADPKD. Fluoroquinolones may be preferred given their lipophilic properties and bactericidal action against gram-negative pathogens.

C

15, 1720

If overt urinary bleeding in a patient with ADPKD lasts longer than one week or occurs for the first time in a patient older than 50 years, he or she should be evaluated for neoplasm.

C

6

Because estrogen has a proliferative effect on hepatic cysts, oral contraceptives containing estrogen and menopausal estrogen therapy should be administered at the lowest effective dose or avoided in patients with ADPKD.

C

1, 6, 27


ADPKD = autosomal dominant polycystic kidney disease.

A = consistent, good-quality patient-oriented evidence; B = inconsistent or limited-quality patient-oriented evidence; C = consensus, disease-oriented evidence, usual practice, expert opinion, or case series. For information about the SORT evidence rating system, go to http://www.aafp.org/afpsort.

SORT: KEY RECOMMENDATIONS FOR PRACTICE

View Table

SORT: KEY RECOMMENDATIONS FOR PRACTICE

Clinical recommendation Evidence rating References

Angiotensin-converting enzyme inhibitors and angiotensin receptor blockers are recommended for initial hypertension management in patients with ADPKD.

C

6, 1113

In patients with ADPKD who develop chronic kidney disease, the blood pressure goal is less than 140/90 mm Hg.

C

13

Fluoroquinolones, third-generation cephalosporins, and trimethoprim/sulfamethoxazole are effective for treating urinary tract infections and infected renal cysts in patients with ADPKD. Fluoroquinolones may be preferred given their lipophilic properties and bactericidal action against gram-negative pathogens.

C

15, 1720

If overt urinary bleeding in a patient with ADPKD lasts longer than one week or occurs for the first time in a patient older than 50 years, he or she should be evaluated for neoplasm.

C

6

Because estrogen has a proliferative effect on hepatic cysts, oral contraceptives containing estrogen and menopausal estrogen therapy should be administered at the lowest effective dose or avoided in patients with ADPKD.

C

1, 6, 27


ADPKD = autosomal dominant

The Authors

AJAY SRIVASTAVA, MD, is an assistant professor of medicine and is the division chief of nephrology in the Department of Internal Medicine at Mercer University School of Medicine in Macon, Ga.

NEEL PATEL, MD, is a hospitalist at Slidell (La.) Memorial Hospital. At the time this article was written, he was a resident in the Internal Medicine Residency Program at Mercer University School of Medicine.

Address correspondence to Ajay Srivastava, MD, Mercer University School of Medicine, Department of Medicine, 707 Pine St., Macon, GA 31201 (e-mail: srivastava_a@mercer.edu). Reprints are not available from the authors.

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