Recurrence of intracranial aneurysms in autosomal-dominant polycystic kidney disease

Belz, Mark M.; Fick-Brosnahan, Godela M.; Hughes, Richard L.; Rubinstein, David; Chapman, Arlene B.; Johnson, Ann; Mcfann, K. I. M. K.; Kaehny, William D.; Gabow, Patricia A.

doi:10.1046/j.1523-1755.2003.00918.x

Cited by 69 publications

(50 citation statements)

References 41 publications

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“…Patients with ADPKD develop bilateral fluid-filled cysts in the kidney and clinical complications such as intracranial aneurysms, hypertension, defective cardiac valve formation, and left ventricular hypertrophy (2)(3)(4). ADPKD results in end-stage renal failure in adulthood, and cardiovascular complications are a leading cause of death in patients with ADPKD (3).…”

mentioning

confidence: 99%

Regulation of ryanodine receptor-dependent calcium signaling by polycystin-2

Anyatonwu¹,

Estrada²,

Tian³

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

146

141

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Mutations in polycystin-2 (PC2) cause autosomal dominant polycystic kidney disease. A function for PC2 in the heart has not been described. Here, we show that PC2 coimmunoprecipitates with the cardiac ryanodine receptor (RyR2) from mouse heart. Biochemical assays showed that the N terminus of PC2 binds the RyR2, whereas the C terminus only binds to RyR2 in its open state. Lipid bilayer electrophysiological experiments indicated that the C terminus of PC2 functionally inhibited RyR2 channel activity in the presence of calcium (Ca 2؉ ). Pkd2 ؊/؊ cardiomyocytes had a higher frequency of spontaneous Ca 2؉ oscillations, reduced Ca 2؉ release from the sarcoplasmic reticulum stores, and reduced Ca 2؉ content compared with Pkd2 ؉/؉ cardiomyocytes. In the presence of caffeine, Pkd2 ؊/؊ cardiomyocytes exhibited decreased peak fluorescence, a slower rate of rise, and a longer duration of Ca 2؉ transients compared with Pkd2 ؉/؉ . These data suggest that PC2 is important for regulation of RyR2 function and that loss of this regulation of RyR2, as occurs when PC2 is mutated, results in altered Ca 2؉ signaling in the heart. intracellular calcium channel ͉ polycystic kidney disease ͉ lipid bilayer ͉ calcium imaging ͉ cardiac cells

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mentioning

confidence: 99%

Regulation of ryanodine receptor-dependent calcium signaling by polycystin-2

Anyatonwu¹,

Estrada²,

Tian³

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

146

141

View full text Add to dashboard Cite

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“…IAs are more likely to occur in ADPKD patients than in the general population with higher rupture incidence [1,3,11,12] , and are responsible for a large proportion of deaths in this group of patients [11][12][13] . IAs occur in 4-22,5% of patients with ADPKD [12,14,15] , which is 4 -5 times more often than in the general population [13,16] and their incidence in this group increases with age, reaching over 22% after the age of 45 years [17] . In a prospective screening study conducted by Pirson et al, IAs appeared in 16% of ADPKD patients with positive family history and in 6% with negative IAs family history [6] .…”

Section: S C R E E N I N G F O R I N T R a C R A N I A L Aneurysmsmentioning

confidence: 98%

“…A positive family history is interpreted as at least one first-degree relative with SAH. In ADPKD, family history is also an important risk factor [19,31] , and it is positive in up to 30% of patients with bleeding [15] . SAH risk is higher in siblings than in relation children-parents [13,32,38] .…”

Section: Intracranial Aneurysmsmentioning

confidence: 99%

“…Authors suggested that screening should be conducted in patients with ADPKD older than 45 years [17] , though subarachnoid hemorrhage in ADPKD typically appears at younger age, on the average of 40 years [5,24] . In majority of analyzes there were no differences found between sexes in terms of IAs frequency in ADPKD [14,15,17,29] . Interestingly in the general population IAs are more frequently diagnosed in woman (woman to man proportion is 3: 1) [3,25] and are more likely to occur in Afro-Americans [26] .…”

Section: S C R E E N I N G F O R I N T R a C R A N I A L Aneurysmsmentioning

confidence: 99%

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Intracranial Manifestations of Autosomal Dominant Polycystic Kidney Disease

Kulesza

Gradzik

Niemczyk

2016

International Journal of Neurology Research

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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. ADPKD is a systemic disease, with multiple extrarenal manifestations, like arterial hypertension, aneurysms, and cysts in solid organs, including liver, pancreas, and spleen. Among intracranial manifestations of ADPKD, the most important are intracranial aneurysms. ADPKD is a well-known risk factor for them. Additionally, arachnoid cysts may be found in some ADPKD patients. Rarely, pineal cysts and choroid plexus cysts are observed in this population. The aim of our paper is to present intracranial manifestations that may be observed in ADPKD.

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“…Previous rupture of an ICA is also an indication for continued screening because of the high recurrence rate (B25%). 82 For patients with positive screening for ICA, aneurysms greater than 10 mm should be considered for appropriate treatment. Periodic surveillance should be offered for smaller ICA.…”

Section: Protein Functionmentioning

confidence: 99%

Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2)

Boucher

Sandford

2004

Eur J Hum Genet

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Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited nephropathy affecting over 1:1000 of the worldwide population. It is a systemic condition with frequent hepatic and cardiovascular manifestations in addition to the progressive development of renal cysts that eventually result in loss of renal function in the majority of affected individuals. The diagnosis of ADPKD is typically made using renal imaging despite the identification of mutations in PKD1 and PKD2 that account for virtually all cases. Mutations in PKD1 are associated with more severe clinical disease and earlier onset of renal failure. Most PKD gene mutations are loss of function and a 'two-hit' mechanism has been demonstrated underlying focal cyst formation. The protein products of the PKD genes, the polycystins, form a calcium-permeable ion channel complex that regulates the cell cycle and the function of the renal primary cilium. Abnormal cilial function is now thought to be the primary defect in several types of PKD including autosomal recessive polycystic kidney disease and represents a novel and exciting mechanism underlying a range of human diseases.

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Recurrence of intracranial aneurysms in autosomal-dominant polycystic kidney disease

Abstract: Individuals with ADPKD and ICA appear to be at moderate risk for new ICAs and increase in size of existing ICAs; mortality and risk of recurrent rupture, however, appear to be low.

Cited by 69 publications

References 41 publications

Regulation of ryanodine receptor-dependent calcium signaling by polycystin-2

Regulation of ryanodine receptor-dependent calcium signaling by polycystin-2

Intracranial Manifestations of Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2)

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