Abstract
Autosomal dominant polycystic kidney disease (ADPKD) belongs to the most common genetic disorders, and affects approximately 1 in 1,000 people in the general population. It is well-known risk factor for intracranial aneurysms (IAs). However, universal screening for IAs in ADPKD patients remains controversial. Nevertheless, to improve patients’ outcomes, patients at risk for IAs should be identified, screened, and prophylactically treated if required. From the point of view of a nephrologist, it is crucial to answer two questions: (1) which ADPKD patients should undergo screening for IAs; and (2) how this screening should be done. These issues are discussed in the paper.
Highlights
Autosomal dominant polycystic kidney disease (ADPKD) belongs to the most common genetic disorders, and affects approximately 1 in 1,000 people in the general population
Headache is observed in 1549% of ADPKD patients[17,18], and may be caused by other reasons, for example arterial hypertension, which is common in ADPKD; up to 60% of young ADPKD patients with normal renal function are hypertensive[19], and the overall prevalence of hypertension exceeds 80%[20]
In our study[33], development of intracranial aneurysm (IA) positively correlated with some blood pressure parameters measured with ambulatory blood pressure monitoring (ABPM). We suggested that these associations may reflect the severity of the ciliopathy-related vascular wall dysfunction, reflecting in both IA development, and the severity of Arterial hypertension (AH)
Summary
Autosomal dominant polycystic kidney disease (ADPKD) belongs to the most common genetic disorders, and affects approximately 1 in 1,000 people in the general population. The disease is due to the mutation in one of two genes: PKD1 in type 1, or PKD2 in type 2 of ADPKD. Mutation of PKD1 is more prevalent and causes 85% of cases of the disease. In a large proportion of patients, ADPKD leads to end-stage renal disease (ESRD)[1]. The average age of ESRD depends on the type of the disease and amounts to 58.1 years in type 1, and 79.7 years in type 2[2]. Due to the extrarenal distribution of polycystins, encoded by PKD1 and PKD2 genes, ADPKD is a systemic disease, with multiple extrarenal manifestations, including arterial hypertension, aneurysms, and cysts in solid organs, like liver, pancreas, and spleen[1]
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