Screening

General population

There is no evidence for screening in the general population; however, screening of patients with secondary hypertension, especially patients ages 20 to 34 years, is mandatory with renal ultrasound.[63]

Asymptomatic members with positive family history of autosomal-dominant PKD (ADPKD)

Screening should be considered for asymptomatic adult patients who have a family history of ADPKD. The patient's right to know, or not to know, should be taken into account. Some patients may not wish to know if they have the disease because of the lack of disease-modifying agents for asymptomatic individuals. Instead, if they do not wish to find out, general health screening and maintenance measures can be carried out.

At-risk individuals <18 years of age are usually not screened, but decide whether and when to be tested as an adult.[1] Pharmacologic studies of therapeutic agents to slow disease progression in pediatric patients are ongoing and the adverse effects from presymptomatic diagnosis in children (removal of choice to know or not know; psychological, educational, and career implications; and insurability issues) need to be considered.[1][7] There are certain situations when it might be beneficial to intervene if the child of an affected person is at risk (e.g., physical exam reveals kidneys are markedly enlarged), so then precautions can be taken during participation in sports where abdominal trauma may occur (e.g., rugby).[36] Children with a positive family history and either confirmed or unknown disease status should be monitored for hypertension and albuminuria.[7]

Screening ADPKD patients for intracranial aneurysms

Widespread presymptomatic screening for intracranial aneurysms is not justified.[31] Screening is indicated if there is a family history of aneurysm or of subarachnoid hemorrhage, if there is previous aneurysm rupture, if the patient is going for elective surgery (e.g., kidney transplant), in high-risk occupations (e.g., pilots, crane operators), and in patients with extreme anxiety despite adequate information.[31] Most unruptured intracranial aneurysms (UIA) detected by presymptomatic screening in ADPKD patients are small (median <4 mm diameter) and in the anterior circulation.[64] Growth and rupture risks are not thought to be higher than those of UIAs in the general population.[65] However, some studies show around a 5-fold increase in rupture rate.[64][66]

Risk of enlarging an existing aneurysm in ADPKD patients is very low if the aneurysm is <7 mm detected by presymptomatic screening, but yearly surveillance is recommended.[67][68] Because the risk of developing a new aneurysm after an initial negative study is approximately 3% at 10 years in patients with a family history of intracranial aneurysm, rescreening is suggested after 5 to 10 years.[69]

Use of this content is subject to our disclaimer