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Diagnosis and screening of autosomal dominant polycystic kidney disease.

ABSTRACT: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney failure and accounts for approximately 5% of ESRD population in the United States. The disorder is characterized by the focal and sporadic development of renal cysts, which increase in size and number with age. Mutations of PKD1 and PKD2 account for most of the cases. Although the clinical manifestations of both gene types overlap completely, PKD1 is associated with more severe disease than PKD2, with larger kidneys and earlier onset of ESRD. In general, renal ultrasonography is commonly used for the diagnosis of ADPKD, and age-dependent criteria have been defined for subjects at risk of PKD1. However, the utility of the PKD1 ultrasound criteria in the clinic setting is unclear because their performance characteristics have not been defined for the milder PKD2 and the gene type for most test subjects is unknown. Recently, highly predictive ultrasound diagnostic criteria have been derived for at-risk subjects of unknown gene type. Additionally, both DNA linkage or gene-based direct sequencing are now available for the diagnosis of ADPKD, especially in subjects with equivocal imaging results, subjects with a negative or indeterminate family history, or in younger at-risk individuals being evaluated as potential living-related kidney donors. Here, we review the clinical utilities and limitations of both imaging- and molecular-based diagnostic tests and outline our approach for the evaluation of individuals suspected to have ADPKD.

SUBMITTER: Pei Y

PROVIDER: S-EPMC2841025 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature

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Diagnosis and screening of autosomal dominant polycystic kidney disease.

Pei York Y Watnick Terry T

Advances in chronic kidney disease 20100301 2

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney failure and accounts for approximately 5% of ESRD population in the United States. The disorder is characterized by the focal and sporadic development of renal cysts, which increase in size and number with age. Mutations of PKD1 and PKD2 account for most of the cases. Although the clinical manifestations of both gene types overlap completely, PKD1 is associated with more severe disease than PKD2, wi ...[more]

PMID: 20219617

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Project description:BACKGROUND AND OBJECTIVES:Intracranial aneurysm rupture is the most devastating complication of autosomal dominant polycystic kidney disease. Whether selective or widespread intracranial aneurysm screening is indicated remains controversial. DESIGN, SETTING, PARTICIPANTS & MEASUREMENTS:Records of 3010 patients with autosomal dominant polycystic kidney disease evaluated at the Mayo Clinic between 1989 and 2017 were reviewed. Those who had presymptomatic magnetic resonance angiography screening were included. RESULTS:Ninety-four intracranial aneurysms were diagnosed in 75 of 812 (9%) patients who underwent magnetic resonance angiography screening. Sex, age, race, and genotype were similar in the groups with and without aneurysms; hypertension and history of smoking were more frequent in the aneurysm group. Twenty-nine percent of patients with aneurysms compared with 11% of those without aneurysms had a family history of subarachnoid hemorrhage (P<0.001). Most aneurysms were small (median diameter =4 mm; range, 2-12 mm); 85% were in the anterior circulation. During a total imaging follow-up of 469 patient-years, de novo intracranial aneurysms were detected in five patients; eight intracranial aneurysms grew (median =2 mm; range, 1-3 mm). During a total clinical follow-up of 668 patient-years, seven patients had preemptive clipping or coil embolization; no intracranial aneurysms ruptured. During a total clinical follow-up of 4783 patient-years in 737 patients with no intracranial aneurysm detected on the first magnetic resonance angiography screening, two patients had an intracranial aneurysm rupture (0.04 per 100 person-years; 95% confidence interval, 0 to 0.10). The rate of intracranial aneurysm rupture in large clinical trials of autosomal dominant polycystic kidney disease was 0.04 per 100 patient-years (95% confidence interval, 0.01 to 0.06). CONCLUSIONS:Intracranial aneurysms were detected by presymptomatic screening in 9% of patients with autosomal dominant polycystic kidney disease, more frequently in those with familial history of subarachnoid hemorrhage, hypertension, or smoking. None of the patients with and two of the patients without aneurysm detection on screening suffered aneurysmal ruptures. The overall rupture rate in our autosomal dominant polycystic kidney disease cohort was approximately five times higher than that in the general population.

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Diagnosis and screening of autosomal dominant polycystic kidney disease.

Publications

Diagnosis and screening of autosomal dominant polycystic kidney disease.

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