Echocardiographic Findings in Autosomal Dominant Polycystic Kidney Disease

Hossack, Kenneth F.; Leddy, Cheryl L.; Johnson, Ann; Schrier, Robert W.; Gabow, Patricia A.

doi:10.1056/nejm198810063191404

Cited by 199 publications

(89 citation statements)

References 33 publications

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“…[27][28] AR can co-exist with other cardiac-specific anomalies such as mitral valve prolapse, mitral incompetence, tricuspid incompetence and tricuspid valve prolapse. [27][28] Intra-cerbral aneurysms (ICA): Dunger was the first to report the association between ADPKD and ICA in 1904. 29 Intra-cerebral aneurysms generally occur in 9-12% of ADPKD patients compared to 2-3% in the general population.…”

Section: Extra-renal Presentationsmentioning

confidence: 99%

Clinical presentation and outcome of autosomal dominant polycystic kidney disease in Nigeria

Arogundade¹,

Akinbodewa²,

Sanusi³

et al. 2018

Afr H. Sci.

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Abstract:Introduction: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is presumably rare in Africa. Knowledge about the disease in Nigeria is limited as demonstrated by scanty articles on the subject. Objectives: To determine the pattern of clinical presentation and outcome of ADPKD among ADPKD patients. Method: ADPKD subjects were prospectively studied between January 1996 and December 2010. Their demographics, clinical and investigation parameters were documented. Dependency on dialysis, renal transplant and death were the final outcomes. Results: Forty one patients (M:F=1.3:1) with mean age of 48.6±4.6 years were studied. ADPKD was diagnosed at 2.73 cases per annum. Family history of ADPKD and hypertension were present in 56.1% and 82.9% respectively. Their mean systolic and diastolic blood pressures were 166.9 ±23.6 and 104 ±21.2 respectively. Nocturia (78.0%) and loin pain (68.3%) were the most common presenting symptoms. Liver cysts (31.7%) and aortic regurgitation (22.0%) were the predominant extra-renal manifestations. Twenty three (56.1%) received haemodialysis; no renal transplantation. Death rate was 51.2%. Presence of uraemia and intra-cerebral aneurysm contributed significantly to mortality. Conclusion: ADPKD may not be so rare in Nigeria. Awareness campaign to change attitude of family members to screening and further studies using newer criteria for diagnosis of ADPKD should be conducted.

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Section: Extra-renal Presentationsmentioning

confidence: 99%

Clinical presentation and outcome of autosomal dominant polycystic kidney disease in Nigeria

Arogundade¹,

Akinbodewa²,

Sanusi³

et al. 2018

Afr H. Sci.

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“…Vascular defects are also observed in Pkd1 hypomorphic mouse mutants (Kim et al, 2000;Hassane et al, 2007), where basement membrane thickening is the earliest pathology associated with dissecting aneurysm (Hassane et al, 2007). Other extra renal manifestations of ADPKD that may involve matrix structural defects include gastrointestinal cysts, cardiac valvular defects and pericardial effusion (Hossack et al, 1988;Qian et al, 2007). An altered ECM has long been known to be associated with ADPKD pathology in human tissue (Candiano et al, 1992;Somlo et al, 1993), and in ADPKD animal and cell culture models (Schafer et al, 1994).…”

Section: Introductionmentioning

confidence: 99%

The ADPKD genespkd1a/bandpkd2regulate extracellular matrix formation

Mangos

Lam

Zhao

et al. 2010

Disease Models &Amp; Mechanisms

136

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SUMMARYMutations in polycystin1 (PKD1) account for the majority of autosomal dominant polycystic kidney disease (ADPKD). PKD1 mutations are also associated with vascular aneurysm and abdominal wall hernia, suggesting a role for polycystin1 in extracellular matrix (ECM) integrity. In zebrafish, combined knockdown of the PKD1 paralogs pkd1a and pkd1b resulted in dorsal axis curvature, hydrocephalus, cartilage and craniofacial defects, and pronephric cyst formation at low frequency (10-15%). Dorsal axis curvature was identical to the axis defects observed in pkd2 knockdown embryos. Combined pkd1a/b, pkd2 knockdown demonstrated that these genes interact in axial morphogenesis. Dorsal axis curvature was linked to notochord collagen overexpression and could be reversed by knockdown of col2a1 mRNA or chemical inhibition of collagen crosslinking. pkd1a/b-and pkd2-deficient embryos exhibited ectopic, persistent expression of multiple collagen mRNAs, suggesting a loss of negative feedback signaling that normally limits collagen gene expression. Knockdown of pkd1a/b also dramatically sensitized embryos to low doses of collagen-crosslinking inhibitors, implicating polycystins directly in the modulation of collagen expression or assembly. Embryos treated with wortmannin or LY-29400 also exhibited dysregulation of col2a1 expression, implicating phosphoinositide 3-kinase (PI3K) in the negative feedback signaling pathway controlling matrix gene expression. Our results suggest that pkd1a/b and pkd2 interact to regulate ECM secretion or assembly, and that altered matrix integrity may be a primary defect underlying ADPKD tissue pathologies.

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“…Valvular heart disease occurs in approximately 18% of cases. Mitral valve billowing, prolapsed, and regurgitation are present in 5.3%, 2.6%, and 7.9% of cases, respectively (39). Although previous echocardiography studies indicated a high prevalence of left ventricular hypertrophy and increased left ventricular mass index in both normotensive and hypertensive ADPKD patients, recent cardiac MR imaging used in 541 ADPKD participants in the Halt Progression of Polycystic Kidney Disease trials (40) revealed a lower than expected prevalence of left ventricular hypertrophy with a frequency of 3.9%.…”

Section: Surgical Resectionmentioning

confidence: 99%

Renal Relevant Radiology

Rahbari-Oskoui¹,

Mittal²,

Mittal³

et al. 2014

Clinical Journal of the American Society of Nephrology

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SummaryAutosomal-dominant polycystic kidney disease is a systemic disorder and the most common hereditary renal disease, which is characterized by cyst growth, progressive renal enlargement, and development of renal failure. The cystic nature of autosomal dominant polycystic kidney disease and its renal and extrarenal complications (kidney stones, cyst hemorrhage, intracerebral aneurysm, liver cysts, cardiac valve abnormalities, etc.) give radiologic imaging studies a central role in the management of these patients. This article reviews the indications, comparative use, and limitation of various imaging modalities (ultrasonography, magnetic resonance imaging, computerized tomography scan, Positron emission tomography scan, and renal scintigraphy) for the diagnosis and management of complications in autosomal dominant polycystic kidney disease. Finally, this work provides evidence for the value of total kidney volume to predict disease progression in autosomal dominant polycystic kidney disease.

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Echocardiographic Findings in Autosomal Dominant Polycystic Kidney Disease

Cited by 199 publications

References 33 publications

Clinical presentation and outcome of autosomal dominant polycystic kidney disease in Nigeria

Clinical presentation and outcome of autosomal dominant polycystic kidney disease in Nigeria

The ADPKD genespkd1a/bandpkd2regulate extracellular matrix formation

Renal Relevant Radiology

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