Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 and chromosome 4 markers in a large Portuguese family, indicating that a third PKD locus is involved in the development of the disease.
Background: Research over the past decade has focused on the role of Klotho as a cardio protective agent that prevents the effects of aging on the heart and reduces the burden of cardiovascular disease CVD. The role of the interaction between fibroblast growth factor 23-(FGF-23)/Klotho in Klotho-mediated actions is still under debate. The main objective was to ascertain the potential use of plasmatic Klotho and FGF23 as markers for CKD-associated cardiac disease and mortality. Methods: This was a prospective analysis conducted in an outpatient diabetic nephropathy clinic, enrolling 107 diabetic patients with stage 2–3 CKD. Patients were divided into three groups according to their left ventricular mass index and relative wall thickness. Results: Multinomial regression analysis demonstrated that low Klotho and higher FGF-23 levels were linked to a greater risk of concentric hypertrophy. In the generalized linear model (GLM), Klotho, FGF-23 and cardiac geometry groups were statistically significant as independent variables of cardiovascular hospitalization (p = 0.007). According to the Cox regression model, fatal cardiovascular events were associated with the following cardiac geometric classifications; eccentric hypertrophy (p = 0.050); concentric hypertrophy (p = 0.041), and serum phosphate ≥ 3.6 mg/dL (p = 0.025), FGF-23 ≥ 168 (p = 0.0149), α-klotho < 313 (p = 0.044). Conclusions: In our population, Klotho and FGF23 are associated with cardiovascular risk in the early stages of CKD.
Mutations to PKD1 and PKD2 are associated with autosomal dominant polycystic kidney disease (ADPKD). The absence of apparent PKD1/PKD2 linkage in five published European or North American families with ADPKD suggested a third locus, designated PKD3. Here we re-evaluated these families by updating clinical information, re-sampling where possible, and mutation screening for PKD1/PKD2. In the French-Canadian family we identified PKD1: p.D3782_V3783insD, with misdiagnoses in two individuals and sample contamination explaining the lack of linkage. In the Portuguese family, PKD1: p.G3818A segregated with the disease in 10 individuals in three generations with likely misdiagnosis in one individual, sample contamination, and use of distant microsatellite markers explaining the linkage discrepancy. The mutation, PKD2: c.213delC, was found in the Bulgarian family, with linkage failure attributed to false positive diagnoses in two individuals. An affected son but not the mother, in the Italian family had the nonsense mutation, PKD1: p.R4228X, which appeared de novo in the son; with simple cysts probably explaining the mother’s phenotype. No likely mutation was found in the Spanish family, but the phenotype was atypical with kidney atrophy in one case. Thus, re-analysis does not support the existence of a PKD3 in ADPKD. False positive diagnoses by ultrasound in all resolved families shows the value of mutation screening, but not linkage, to understand families with discrepant data.
Purpose The potential nephrotoxicity of intravenous iodinated contrast media is a major concern for acute ischaemic stroke imaging evaluation. This study aimed to assess the incidence of acute kidney injury after intravenous iodinated contrast media exposure in acute ischaemic stroke patients. Methods We conducted a retrospective cohort analysis between January 2012 and July 2018 to select adult patients admitted to the emergency department with acute ischaemic stroke. The exposed patients received a uniform intravenous dose of low osmolar non-ionic iodinated contrast media, as part of the imaging protocol for acute ischaemic stroke. The unexposed patients underwent a non-enhanced cranial computed tomography scan. Acute kidney injury was defined according to the Kidney Disease Improving Global Outcomes criteria, limited to the first 72 hours. Results A total of 161 and 105 patients were included in the exposed and unexposed groups, respectively. The median age was 72.8 years (interquartile range 20), 53% were men and 97% were white. Demographic and baseline characteristics were similar between the groups. The incidence of acute kidney injury between exposed ( n = 10, 6.2%) and unexposed ( n = 1, 1%) groups ( P = 0.073) was similar and contrast exposure was not a significant predictor of acute kidney injury. Conclusion Intravenous iodinated contrast media exposure during acute ischaemic stroke imaging protocols is not an independent predictor of acute kidney injury in patients with normal or near-normal renal function. Studies with larger sample sizes would help to clarify if patients with both cardiovascular risk factors and impaired renal function could benefit from prophylactic measures.
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