2 cases of Lowe syndrome

L?we syndrome is a form of X-linked mental retardation with short stature, cataracts, renal tubular dysfunction and hypotonia. We present 2 cases to illustrate this rare entity, but also to discuss the suggestive aspect of the face and to underline the importance of molecular tests for genetic counselling. Both cases associate ocular, cerebral and renal defects. Molecular tests changed the recurrence risk in the first family.     

Ambulatory blood pressure measurement in the renal patient

Ambulatory blood pressure monitoring has been steadily growing in popularity as equipment becomes more accurate, affordable, and patient-friendly. In addition, software packages are more powerful and physician-customizable, and more physicians are accepting of ambulatory blood pressure monitoring’ advantages. Summarizing the studies that deal mainly with hemodialysis patients, there are clear advantages to using more than isolated pre- and posthemodialysis blood pressure readings. If enough predialysis blood pressure readings are taken and averaged, this is a reasonable guide to endorgan damage (ie, left ventricular hypertrophy). Home and ambulatory blood pressure-derived values are complementary, and only this approach can discern any further contribution from diurnal blood pressure elevation. The crosssectional association between blood pressure and end-organ damage is very weak in end-stage renal disease patients if the blood pressure values are “casual,” but the relationship is much stronger when ambulatory blood pressure monitoring-derived measurements are used. One prospective study clearly linked the sustained loss of diurnal blood pressure fall with sleep with progressive left ventricular dilatation. Loss of circadian variation in blood pressure is associated with an increased mortality rate for dialysis patients and for diabetic patients, regardless of diabetes type. The combination of nondipping in renal impairment leads to a high mortality rate. Much more work is needed to dissect out the causes for abnormal diurnal blood pressure rhythm and attempt to modulate this parameter. Obstructive sleep apnea may be a promising target for intervention.     

Laparoscopic management of peritoneal dialysis catheters

Continuous ambulatory peritoneal dialysis catheter could be placed also by open laparotomy as well as by laparoscopic techniques. We did a retrospective study on cases to compare the results of laparoscopies. There were included 42 patients which we divided in two groups of 21. Group A underwent 21 cases in which catheters was inserted by open laparotomy. Continuous ambulatory peritoneal dialysis was started in 24 to 48 hours later. Group B incharged 21 patients underwent laparoscopic placement of the catheter between 2000 and 2001. Continuous peritoneal dialysis was started early (after 6 hours). The mean operative time was 28 minutes in group A and 30 minutes in group B. Fluid leakage was noticed in 4 patients in group A and in 3 patients in group B. Peritoneal reactions occurred in 5 patients in group A and in 2 patients in group B. Tip migration occurred in 5 patients in group A (one of which was mobilized accidentaly early after intervention) in which was necessary 4 open reinterventions, and no patients in group B. In group B one patient underwent a simultaneous liver biopsy for cirosis and another female patient underwent ovariectomy for a giant ovary cyst. Laparoscopic placement of dialysis catheter leads to better function than does open procedure, it allows immediate start of dialysis and permits simultaneous performance of other laparoscopic procedures.     

Dynamics of the circadian blood pressure profiles after renal transplantation

BACKGROUND: Abnormalities of diurnal blood pressure (BP) rhythm ("nondipping") are well-described in dialysis patients, and have prognostic importance. It is controversial whether successful renal transplantation (RTx) improves diurnal BP rhythm. To date, no study has attempted to define and model the evolution of diurnal BP rhythm profiles from dialysis to engraftment, focusing on the immediate (4-6 weeks) and medium-term (>1 year) postengraftment periods. METHODS: To test if kidney transplantation normalizes the BP profile, ambulatory blood pressure monitoring (ABPM) was performed in 20 living related transplants (age, 30.3+/-5.1 years; 11 males, on dialysis for 25.6 months) 1 month preRTx and repeated 1 month and >1 year (ABPM3) after successful RTx. Dipping was defined as a sleep-to-awake ratio>0.92 (for systolic BP) and >0.90 (for diastolic BP). RESULTS: PreRTx only 15% patients were dippers. At 1 month postRTx (creatinine clearance, 65.8 ml/min), all patients were complete nondippers. However, after >1 year postRTx (creatinine clearance, 70.4 ml/min), 40% were now dippers. Most importantly, overall, 30% of the patients improved significantly their circadian rhythm (35.3% of the initial preRTx nondippers). Despite successful renal transplantation, 55% patients maintained unchanged their nondipping profile throughout all three ABPM recordings. The only determinants of "long-term" postRTx circadian rhythm are the contemporary level of the renal function and the baseline, dialysis dipping profile: SBP3 sleep-to-awake ratio is related with serum creatinine3 (r=0.58, P=0.001), creatinine clearance (r=-0.41, P=0.036) and SBP1 sleep-to-awake ratio (r=0.48, P=0.034); similarly DBP3 sleep-to-awake ratio is related with serum creatinine3 (r=0.63, P=0.001), creatinine clearance (r=-0.471, P=0.036) and SBP1 sleep-to-awake ratio (r=0.53, P=0.016). In all, 57% of the variance in dipping status can be attributed and explained by the contribution of renal function and initial circadian variability. CONCLUSIONS: Half of the nondipper dialysis patients maintain a permanently abnormal circadian rhythm, despite successful RTx. In the short term, RTx is associated with a highly abnormal diurnal profile, exclusively related to ciclosporin dose and levels. However, in the longer term, renal transplantation leads to a significant improvement of the circadian blood pressure profile, influenced by the renal function level and by the pretransplantation dipping profile.     

Major impact of arteriosclerosis on cardiovascular morbidity and mortality

Arterial stiffness (arteriosclerosis) is a diffuse process affecting the media of large arteries, strongly linked to the process of ageing, but influenced by several other major factors like hypertension and vascular calcifications. Arteriosclerosis has been recognized in recent years as a novel non-traditional cardiovascular risk factor both for renal and non-renal general population. Two of arterial stiffness parameters, pulse wave velocity and the augmentation index--determined by applanation tonometry, are strongly correlated with cardiovascular morbidity and mortality, as well as with the general mortality. Arterial stiffness, due to several factors related to the uremic milieu, is more pronounced in patients with end-stage renal disease compared with patients without renal dysfunction. The authors are briefly reviewing the most recent literature regarding the impact of arterial stiffness on cardiovascular outcome. Identifying the factors associated with reduced arterial compliance may positively influence cardiovascular outcome in the general population, and particularly in renal patients, plagued by a high burden of cardiovascular disease.     

Acute effect of CyA A (Neoral) on large artery hemodynamics in renal transplant patients

BACKGROUND: CyA A (CyA) may induce intrarenal vasoconstriction, endothelial dysfunction, and hypertension. There are only two contradictory reports describing the acute effect of CyA on renal resistances measured by color Doppler flowmetry. Therefore, we studied the acute influence of oral CyA on arterial haemodynamics by assessing simultaneous changes in blood pressure, applanation tonometry-derived pulse wave analysis and duplex ultrasound-derived intrarenal resistance indices. METHODS: Augmentation index (AIx) (difference between the first and second systolic peak on the aortic pressure waveform divided by the pulse pressure = AIx) was determined from contour analysis of arterial waveforms recorded by applanation tonometry using the AtCor device in 18 live-related renal transplants (11 females/7 males, age = 32.0 +/- 8.1 years, transplantation duration = 17.5 +/- 16.1 months, and mean serum creatinine = 133 +/- 70 micromol/L). All studies were performed just before (C0), and 2 hours after (C2) the oral administration of CyA. At the same C0 and C2 moments the resistive index (RI) = (peak systolic frequency shift - minimum diastolic frequency shift)/peak systolic frequency shift, and pulsatility index (PI) = (peak systolic frequency shift - minimum diastolic frequency shift)/mean frequency shift were calculated from Doppler recorded waveforms. RESULTS: Blood pressure and heart rate did not differ significantly at C0 and at C2 serum levels: 134.3/82.9 vs. 128.1/80.0 mm Hg and 72.0 vs. 71.0 beats/min, respectively, despite a marked increase in whole blood concentration (CyA(C0)= 90.8 +/- 45.9 vs. CyA(C2)= 547.4 +/- 251.3 ng/mL) (P= 0.05). Mean AIx fell significantly from 17.2 +/- 13.8 to 12.9 +/- 14.2 (P < 0.0001). There was no correlation between the extent (expressed as absolute or relative change) of the measured alteration in AIx and total administered CyA dose, or increment in blood level between C0 and C2. In support, the intake of CyA did not induce a significant increase in Doppler resistance (RI(C0)= 0.68 +/- 0.08 vs. RI(C2)= 0.70 +/- 0.09) and pulsatility indices (PI(C0)= 1.32 +/- 0.31 vs. PI(C2)= 1.33 +/- 0.28). Finally, three patients were studied twice (>1 week): one under two levels of creatinine, one with no antihypertensives, and a third receiving verapamil initially. All these maintained a significant decrease in AIx at C2 from C0 supporting the reproducibility of the phenomenon. CONCLUSION: We demonstrate that Neoral CyA acutely improves large arterial compliance function and does not induce an acute rise in intrarenal resistance in stable renal transplant subjects with normal renal function. We speculate that there may be an effect of vitamin E, the diluent vehicle in which CyA is carried (1000 IU/100 mg CyA), shown to improve endothelial function.     

Coronary artery calcification and aortic pulse wave velocity in chronic kidney disease patients

BACKGROUND: Patients with end-stage renal disease (ESRD) are at increased risk of cardiovascular mortality and morbidity. Many complications arise in ESRD patients as a result of the twin arterial pathologies of atherosclerosis and arteriosclerosis. Part of this latter process is calcification of the arterial media, which is thought significantly to increase vascular stiffness. The aim of our study was to explore the relationship between measures of arterial stiffness-pulse wave velocity (PWV)-and the extent of calcification in the coronary arteries (CAC). METHODS: Over a period of 2 years 82 patients from our renal unit were invited to participate in our study. Sixty-two patients agreed to undergo electron beam computerized tomography (EBCT), and in 55 (38 males and 17 females), PWV measurements were made. EBCT and PWV measurements were done according to previously described protocols. RESULTS: The mean age of the 55 patients was 56.4 years. The mean duration of dialysis was 65.4 months, and the mean CAC score was 2551. The mean PWV was 9.13 m/s. PWV strongly correlated with total CAC even after correction for age, dialysis duration, and time averaged C-reactive protein (CRP) (P= 0.0001). CAC scores were significantly different when compared according to PWV tertiles (P= 0.0001). CONCLUSION: We have demonstrated that PWV is strongly related to the degree of EBCT-derived coronary artery calcium score in chronic kidney disease patients.     

Pyrexia of unknown origin and HIV infection in a middle aged woman. A case study

Pyrexia of unknown origin (PUO) is defined as a prolonged fever of more than 3 weeks duration and which resists a diagnosis after a week in hospital. Here we present a case admitted in our hospital with fever of prolonged duration, esophageal candidiasis, multiple systemic symptoms and infections. She was diagnosed as being infected by HIV and presenting with AIDS related complex with no clear details of the source of infection. There is no significant history of exposure, sexual transmission or blood transfusions. The only mode suggestive of acquiring HIV in this case was probably due to her repeated hospital admissions and repeated intravenous infusions. She also had history of dental procedures which may be a considerable factor.     

Retrospective study of 97 ANCA-positive patients: epidemiologic and clinical spectrum

We analysed the clinical profile of antineutrophil cytoplasmic antibodies (ANCA) positive patients in a retrospective study including all cases of ANCA positivity (determined by ELISA) from the Nephrology Clinic, Parhon University Hospital Iasi during the interval 1998-2003. There were 97 ANCA positive patients (mean age 43.7 ?18-75? years, female/male ratio 1.55), of whom almost two thirds had c-ANCA, almost one third p-ANCA, while 9 patients had both types of antibodies. The incidence was 22.5/pmp for the North-Eastern province of Romania. Just 19.3% from the suspected cases with ANCA-associated disease were positive for these antibodies. 47.7% had systemic vasculitis (10 with microscopic polyangiitis--MA, 6 with Wegener's granulomatosis--WG, 1 with Churg-Strauss angiitis, 29 with non-specific vasculitis--NSV). Twenty-seven (27.8%) had connective tissue disease--CTD (systemic lupus erythematosus, rheumatoid arthritis, polymyositis, systemic sclerosis, mixed connective tissue disease, and sarcoidosis), while in 5 cases ANCA were associated with other diseases. Nine cases presented with rapid progressive glomerulonephritis (RPGN) without signs of systemic involvement, and other ten with advanced chronic renal failure (CRF). The most frequent clinical manifestations involved the kidney (71%), the skin, the muscles and joints, and the cardiovascular system. CONCLUSIONS: ANCA positivity is associated with a wide spectrum of diseases, mostly with CTD and NSV. c-ANCA was predominantly seen in WG and advanced CRF, while p-ANCA was associated with MA. In nonspecific vasculitis and connective tissue diseases, both patterns were present. We recommend ANCA determination as a screening method in all cases with renal dysfunction and nephritic syndrome and/or with signs of systemic vasculitis and/or collagenosis.     

Risk of sudden death in patients with chronic renal failure and hemodialysis

Cardiovascular mortality in uremic patients treated by hemodialysis overrates ten times cardiovascular mortality in general population. Approximatively 40% of patients on iterative hemodialysis die from cardiac diseases, half of cases by sudden death. Several risk factors for sudden death are well known: QTc interval prolongation, decrease of RR interval <750 msec, decrease of heart rate variability, presence of late ventricular potentials (LVP), presence of high risk ventricular extrasystoles, decrease of ejection fraction (EF) <40 %, presence of left ventricular hypertrophy. Our study evaluated the above-mentioned risk factors for sudden death in patients with chronic renal failure on hemodialysis. We studied 37 patients, 22 males and 15 females, with mean age of 42 years old, without diabetes, heart failure and arrhythmias, without myocardial ischemia on ECG, being on hemodialysis (HD) programme for minimum 1 year (HD parameters are: 4 h x 3/week, qB = 300 ml/min, buffer = bicarbonate, Ca dialysate = 1.75 mmol/l, K dialysate = 2.1 mmol/l, conductivity = 135 mS). The patients were evaluated by echocardiography, standard and Holter ECG. Statistics evaluation was performed in SPSS v.9.0. Program. The results proved that 80% of patients on HD have risk factors for sudden death, which are closely related with age and hyperhydration. Statistics proved that presence of high-risk arrhythmias is connected with heart rate variability and prolongation of QTc interval (favored by HD). 50% of our patients have 2 to 4 risk factors for sudden death, which increase incidence of sudden death in patients on HD.