Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene.

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease clinically characterized by the coexistence of some or all of the following major disorders: deafness, cervical branchial fistulae, preauricular pits, and renal abnormalities. Most families with BOR syndrome have mutations on the EYA-1 gene on chromosome 8q. We present the case of a 23-year-old Italian woman without a familial history of BOR syndrome. The patient, who had hearing loss and a history of surgeries for correction of bilateral cervical branchial fistulae and bilateral preauricular pits, presented with renal impairment, hypertension and overt proteinuria. DNA sequencing showed a novel heterozygous mutation 1420-1421delCC in exon 14 of EYA-1 gene.

Impact of type 2 diabetes on left ventricular geometry and diastolic function in hypertensive patients with chronic kidney disease.

Left ventricular hypertrophy (LVH) and diastolic dysfunction are very common in patients with chronic kidney disease (CKD). Aim of this study was to evaluate the impact of type 2 diabetes on LV geometry and diastolic function in hypertensive patients with CKD. We enrolled 288 Caucasian subjects with hypertension and CKD; of them, 112 had diabetes. Patients with cardiovascular (CV) diseases, glomerular filtration rate (GFR) >60 ml min(-1) per 1.73 m(2), dialysis treatment and other major non-CV diseases were excluded. All patients underwent routine biochemical analyses and echocardiographic examination with tissue Doppler imaging (TDI). Patients with diabetes had significantly higher LV wall thicknesses (P=0.0001), relative wall thickness (RWT) (P=0.0001) and left atrium volume index (P=0.03), when compared with patients without diabetes. Further, diabetic patients had very high prevalence of concentric LVH. Em, evaluated by TDI, was significantly lower in patients with diabetes (P=0.005). However, the difference lost statistical significance after correction by analysis of covariance for RWT. Multiple stepwise linear regression analysis showed that the variables independently associated with Em were: age (ß 0.364; P=0.0001), GFR (beta 0.101; P=0.019), and the presence of diabetes (ß 0.166; P=0.002). Our study showed that in hypertensive patients with CKD the presence of diabetes is associated with increased LV-wall thicknesses and concentric geometry; further, diabetes together with renal function (GFR) is associated with worse diastolic function, independently of potential confounders, such as age, gender, body mass index and blood pressure.

Clinical correlates of renal dysfunction in hypertensive patients without cardiovascular complications: the REDHY study.

Our study was aimed to assess the clinical correlates of different degrees of renal dysfunction in a wide group of non-diabetic hypertensive patients, free from cardiovascular (CV) complications and known renal diseases, participating to the REDHY (REnal Dysfunction in HYpertension) study. A total of 1856 hypertensive subjects (mean age: 47+/-14 years), attending our hypertension centre, were evaluated. The glomerular filtration rate (GFR) was estimated by the simplified Modification of Diet in Renal Disease Study prediction equation. A 24-h urine sample was collected to determine albumin excretion rate (AER). Albuminuria was defined as an AER greater than 20 microg min(-1). We used the classification proposed by the US National Kidney Foundation's guidelines for chronic kidney disease (CKD) to define the stages of renal function impairment. In multiple logistic regression analysis, the probability of having stage 1 and stage 2 CKD was significantly higher in subjects with greater values of systolic blood pressure (SBP) and with larger waist circumference. SBP was also positively related to stage 3 CKD. Stage 3 and stages 4-5 CKD were inversely associated with waist circumference and directly associated with serum uric acid. Age was inversely related to stage 1 CKD and directly related to stage 3 CKD. The factors associated with milder forms of kidney dysfunction are, in part, different from those associated with more advanced stages of renal function impairment.

Relationships between metabolic syndrome and left ventricular mass in hypertensive patients: does sex matter?

Several studies documented an association between metabolic syndrome (MetS) and left ventricular (LV) hypertrophy. However, only in a few of these studies the impact of MetS on left ventricular mass (LVM) was separately analysed by gender, with conflicting results. The aim of our study was to verify, in a wide sample of essential hypertensive patients, the influence of gender, if any, on the relationship between MetS and LVM. We enrolled 475 non-diabetic subjects (mean age: 46 +/- 11 years), with mild-to-moderate essential hypertension, of whom 40% had MetS, defined on the basis of Adult Treatment Panel III (ATPIII) criteria. All the patients underwent a 24-h ambulatory blood pressure monitoring and an echocardiogram. LVM indexed for height (2.7) (LVMH (2.7)) was significantly (P < 0.001) higher in women with MetS (n=83) than in those without it (n=97; 54+/-17 vs 42+/-11 g m(-2.7)). An equally significant difference in LVMH (2.7) was documented also in male gender between the two groups with (n=105) and without MetS (n=190; 51+/-14 vs 43+/-11 g m(-2.7); P < 0.001). The relationship between MetS and LVMH (2.7) remained statistically significant (P < 0.001) in both sexes, in multiple regression analyses, even after adjustment for potential confounding factors. Our results seem to suggest that the relationship between MetS and LVM is not significantly affected by gender, being LVM increased in both hypertensive women and men with MetS.

Metabolic syndrome in subjects with white-coat hypertension: impact on left ventricular structure and function.

Some reports have suggested that white-coat hypertension (WCH) is associated with some features of the metabolic syndrome (MetS). These metabolic disturbances, instead of WCH per se, may potentially explain the greater extent of end-organ damage sometimes observed in WCH subjects (WCHs) when compared to normotensive individuals (NTs). The aim of the present cross-sectional study was to compare left ventricular (LV) structure and function in three groups of subjects: WCHs with MetS, WCHs without MetS and NTs. A total of 145 WCHs, 35% of whom had MetS, were enrolled. As controls, 35 NTs were also studied. In all subjects, routine blood chemistry, echocardiographic examination and 24-h ambulatory blood pressure monitoring were performed. When compared with WCHs without MetS, those with MetS showed higher LV mass indexed by height elevated by a power of 2.7 (LVMH(2.7)) (49.6+/-14.8 vs 38.9+/-9.8 g/m(2.7); P<0.0001). The same parameter was greater in WCHs without MetS than in NTs (32+/-8 g/m(2.7); P=0.004). Moreover, the E-wave deceleration time was longer in WCHs with MetS than in those without it (236.2+/-66.4 vs 200.5+/-30.8 ms; P<0.0001). The relationship of MetS with LVMH(2.7) was confirmed in multivariate regression models. Our results seem to suggest that MetS may have a deleterious influence on LV structure and function in WCH. However, WCH, being associated with an increased LV mass, also in subjects without MetS, may not be considered as an innocuous phenomenon.

Influence of metabolic syndrome on hypertension-related target organ damage.

OBJECTIVES: The aim of our study was to analyse, in a wide group of essential hypertensive patients without diabetes mellitus, the influence of metabolic syndrome (MS) (defined according to the criteria laid down in the Third Report of the National Cholesterol Education Program Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults) on markers of preclinical cardiac, renal and retinal damage. DESIGN: Cross-sectional study. SETTING: Outpatient hypertension clinic. SUBJECTS AND METHODS: A total of 353 young and middle-aged hypertensives, free from cardiovascular and renal diseases (and 37% of whom had MS), underwent echocardiographic examination, microalbuminuria determination and non-mydriatic retinography. RESULTS: When compared with subjects without MS, hypertensive patients with MS exhibited more elevated left ventricular (LV) mass (either normalized by body surface area or by height elevated by a power of 2.7), higher myocardial relative wall thickness, albumin excretion rate (AER) and a greater prevalence of LV hypertrophy (57.7% vs. 25.1%; P < 0.00001), of microalbuminuria (36.2% vs. 19.3%; P = 0.002) and of hypertensive retinopathy (87.7% vs. 48.4%; P < 0.00001). These results held even after correction for age, 24-h blood pressures, duration of hypertension, previous antihypertensive therapy, and gender distribution. The independent relationships between LV mass and MS, and between AER and MS, were confirmed in multivariate regression models including MS together with its individual components. CONCLUSIONS: MS may amplify hypertension-related cardiac and renal changes, over and above the potential contribution of each single component of this syndrome. As these markers of target organ damage are well-known predictors of cardiovascular events, our results may partly explain the enhanced cardiovascular risk associated with MS.