Dissecting Aneurysm in A Patient with Autosomal Dominant Polycystic Kidney Disease

Fukunaga, Naoto; Yuzaki, Mitsuru; Nasu, Michihiro; Okada, Yukikatsu

doi:10.5761/atcs.cr.11.01756

Cited by 14 publications

(7 citation statements)

References 16 publications

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“…The study selection process is represented in Figure 3. We report data from 27 cases ( Table 1) of ADPKD patients with AD, of which 25 were previously identified from the literature [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] and two from our clinical experience. A schematic representation of age, hypertension and CKD stage distribution in the study population is reported in the Figure 4.…”

Section: Resultsmentioning

confidence: 99%

“…However, additional manifestations are often described, including: intracranial, coronary and other arterial aneurysms, arterial dolichoectasias, aortic or cervicocephalic arteries dissections, and heart valve diseases . Although ADPKD‐AD association has been previously reported, only few cases are available in the literature and a systematic review has never been made. We report two cases of AD in ADPKD patients from our experience and perform a systematic analysis of the literature.…”

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confidence: 99%

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Aortic dissection in patients with autosomal dominant polycystic kidney disease: A series of two cases and a review of the Literature

et al. 2015

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ABSTRACT:Aortic dissection (AD) is the most common life-threatening disease involving the aorta. It is rarely associated with systemic disorders such as Autosomal Dominant Polycystic Kidney Disease (ADPKD), a genetic syndrome characterized by cystic degeneration of kidneys, possible presence of cysts in other organs and extra-renal manifestations, including cardiovascular disorders. We performed a systematic literature search focused on the occurrence of AD associated with ADPKD (25 cases identified), and reported two cases from our experience. We selected data on sex, age, family history of ADPKD and/or AD, habitus, hypertension, renal function, presence of hepatic/pancreatic/splenic cysts, clinical presentation of AD, AD type according to the Stanford classification, treatment and outcome. Furthermore we compared this dataset with the data of the overall population with AD from the International Registry of Acute Aortic Dissection (IRAD). Stanford A type AD was documented in 62% of patients. As expected, the initial manifestation of AD was most commonly chest and back pain (80%). The mean age of AD occurrence appears significantly reduced in ADPKD patients compared to the general population with AD (49 ± 12 vs 62 ± 14, P < 0.001). Of note, our analysis shows a remarkably higher frequency of hypertension (90%) compared to the overall AD population (75%), although not significantly (P = 0.133). AD should be always ruled out in ADPKD subjects with chest and back pain symptoms, despite them being young and at lower risk. A careful preventive monitoring as well as an optimal blood pressure control may reduce the risk of AD and improve the outcome of these patients.

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Section: Resultsmentioning

confidence: 99%

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confidence: 99%

Aortic dissection in patients with autosomal dominant polycystic kidney disease: A series of two cases and a review of the Literature

et al. 2015

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“…These consist of a variety of conditions targeting the aorta, with the most common forms being aneurysm [1,2], dissection [3,4], occlusion owing to atherosclerosis [5,6] and a general stiffening of the normally elastic aorta that is thought to be a natural consequence of ageing ( [7][8][9][10][11]; table 1). There are many co-morbid abnormalities that can lead to or be associated with one or more of these conditions, including hypertension [12][13][14], genetic mutations (such as Marfan syndrome (MFS) [15,16]), developmental defects (such as bicuspid aortic valve (BAV) [17 -19]), connective tissue disorders (such as Ehler -Danlos disorder [20,21], scleroderma [22,23], osteogenesis imperfecta [24,25], polycystic kidney disease [26,27] and Turner syndrome [28,29]), as well as injury. The co-morbid abnormalities that will be discussed below are shown in table 1.…”

Section: Introductionmentioning

confidence: 99%

Elastin and collagen fibre microstructure of the human aorta in ageing and disease: a review

Tsamis

Krawiec

Vorp

2013

J. R. Soc. Interface.

393

300

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Aortic disease is a significant cause of death in developed countries. The most common forms of aortic disease are aneurysm, dissection, atherosclerotic occlusion and ageing-induced stiffening. The microstructure of the aortic tissue has been studied with great interest, because alteration of the quantity and/or architecture of the connective fibres (elastin and collagen) within the aortic wall, which directly imparts elasticity and strength, can lead to the mechanical and functional changes associated with these conditions. This review article summarizes the state of the art with respect to characterization of connective fibre microstructure in the wall of the human aorta in ageing and disease, with emphasis on the ascending thoracic aorta and abdominal aorta where the most common forms of aortic disease tend to occur.

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“…[7][8][9][10] There are also reports in the literature of patients with aneurysms and dissections of other large arteries, including the aorta. [11][12][13][14][15] The connection between ADPKD and these vascular phenotypes has led to the hypothesis that polycystin signaling plays a role in maintaining vascular integrity. 16,17 Several lines of experimental data are consistent with this concept.…”

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confidence: 99%

A Pkd1-Fbn1 Genetic Interaction Implicates TGF-β Signaling in the Pathogenesis of Vascular Complications in Autosomal Dominant Polycystic Kidney Disease

Chen

Wang

Judge

et al. 2014

Journal of the American Society of Nephrology

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Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of renal failure that is due to mutations in two genes, PKD1 and PKD2. Vascular complications, including aneurysms, are a well recognized feature of ADPKD, and a subgroup of families exhibits traits reminiscent of Marfan syndrome (MFS). MFS is caused by mutations in fibrillin-1 (FBN1), which encodes an extracellular matrix protein with homology to latent TGF-b binding proteins. It was recently demonstrated that fibrillin-1 deficiency is associated with upregulation of TGF-b signaling. We investigated the overlap between ADPKD and MFS by breeding mice with targeted mutations in Pkd1 and Fbn1. Double heterozygotes displayed an exacerbation of the typical Fbn1 heterozygous aortic phenotype. We show that the basis of this genetic interaction results from further upregulation of TGF-b signaling caused by Pkd1 haploinsufficiency. In addition, we demonstrate that loss of PKD1 alone is sufficient to induce a heightened responsiveness to TGF-b. Our data link the interaction of two important diseases to a fundamental signaling pathway.

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Dissecting Aneurysm in A Patient with Autosomal Dominant Polycystic Kidney Disease

Cited by 14 publications

References 16 publications

Aortic dissection in patients with autosomal dominant polycystic kidney disease: A series of two cases and a review of the Literature

Aortic dissection in patients with autosomal dominant polycystic kidney disease: A series of two cases and a review of the Literature

Elastin and collagen fibre microstructure of the human aorta in ageing and disease: a review

A Pkd1-Fbn1 Genetic Interaction Implicates TGF-β Signaling in the Pathogenesis of Vascular Complications in Autosomal Dominant Polycystic Kidney Disease

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