Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature.

Renal dysfunction is increasingly recognized as a potential clinical feature of mitochondrial cytopathies such as mitochondrial encephalomyopathy, lacticacidosis and stroke-like episodes (MELAS) syndrome. Five cases of MELAS syndrome with renal involvement from 4 unrelated families are presented in this case series. Three of the 5 patients had a history of maternally-inherited diabetes and/or deafness.

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

Background: COL4A3, COL4A4, and COL4A5 are the only collagen genes that have been implicated in inherited nephropathies in humans. However, the causative genes for a number of hereditary multicystic kidney diseases, myopathies with cramps, and heritable intracranial aneurysms remain unknown.

Methods: We characterized the renal and extrarenal phenotypes of subjects from three families who had an autosomal dominant hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC), which we propose is a syndrome.

[Are preoperative examinations useful in the management of patients with renal hyperparathyroidism?].

Aim Of The Study: To evaluate the efficiency of preoperative parathyroid ultrasonography and scintigraphy in the management of renal hyperparathyroidism.

Patients And Methods: The charts of the last consecutive 200 patients who underwent surgery for renal hyperparathyroidism from 1998 to 2003 were retrospectively reviewed to collect data concerning parathyroid gland function, results of preoperative ultrasonography and scintigraphy, as well as modalities and results of surgical exploration.

Results: Ultrasonography and scintigraphy sensibilities were 36.

[Imaging in urinary tract infections in adults].

Uncomplicated infection of the urinary tract is frequent and usually resolves rapidly with treatment and imaging is unnecessary. Progression to complex infection often occurs in patients with predisposing factors. Imaging assists in evaluating the extent of disease, plays a role in directing therapy and guides interventional procedures if necessary.

Apo(a) phenotypes and lp(a) concentrations in renal transplant patients.

Plasma lipoprotein (a) (LP(a)) concentrations are increased in patients with end-stage renal disease. Considering the influence of the apolipoprotein (a) (Apo(a)) polymorphism and the mode of dialysis in this prospective longitudinal study, we compared Lp(a) concentrations before and after the first 6 months of a successful kidney transplantation in 125 recipient patients. Apo(a) phenotyping was performed by using SDS-PAGE and SDS-agarose, isoforms were classified into high molecular weight (HMW) and low molecular weight (LMW).

Renal thrombotic microangiopathy in systemic lupus erythematosus: clinical correlations and long-term renal survival.

Background: Renal thrombotic microangiopathy (TMA) is an uncommon vascular complication of systemic lupus erythematosus (SLE). Its clinical symptoms and impact on renal survival remain unclear.

Methods: Eight patients aged 25 +/- 6 years with biopsy-proven renal TMA and at least four ARA criteria for the diagnosis of SLE were retrospectively studied over a 7-year period.

Erythrocyte sedimentation rate, an underestimated tool in chronic renal failure.

Background: Erythrocyte sedimentation rate is widely used in the general population. It has seldom been studied in patients with chronic renal failure. The purpose of this study was to assess its usefulness in haemodialysis patients.

Alteration of the lipid and apolipoprotein contents of lipoprotein (a) in haemodialysis patients.

Background: To examine the possible alteration in Lp(a) composition, protein and lipid contents of Lp(a) were determined in 10 haemodialysis patients (HD) matched with 10 controls (C) for apo(a) phenotypes.

Methods: All subjects (HD and C) had Lp(a) concentrations greater than 30 mg/dl (mean+/-SD : 82.3+/-41.

Neutral-lipid transfers and cholesteryl ester transfer protein in hemodialyzed patients.

Abnormalities in cholesteryl ester transfers may play a role in the development of atherosclerosis observed in patients with end-stage renal failure treated by chronic hemodialysis. Net neutral-lipid transfers and cholesteryl ester transfer protein activity and mass were investigated in 20 hemodialyzed patients, arbitrarily divided into two groups based on fasting triglyceride levels, and compared to triglyceride-matched control groups. In the hypertriglyceridemic subjects (plasma triglyceride values > 150 mg/dl), high-density lipoprotein cholesterol was decreased, and the net cholesteryl ester transfer rates were significantly higher than the rates in normolipidemic subjects.

Apolipoprotein AI and apolipoprotein B containing particle analysis in normolipidemic hemodialyzed patients: evidence of free apolipoprotein E.

Whole plasma from 6 normolipidemic chronic renal failure (CRF) patients undergoing hemodialysis treatment was passed through the anti-apolipoprotein (Apo) AI immunosorbent column connected to the anti-Apo B immunoaffinity column. Apo AI and B containing particles were analyzed for lipid and Apo contents. The results were compared with findings obtained in age-matched normolipidemic healthy controls.

[Axillo-axillary access in hemodialysis].

Axillo-axillary angio-access can be an alternative device (bovine graft or synthetic graft) for dialysis patients among whom upper arm peripheral veins are impracticable or previous fistulas are thrombose. This procedure was used in seven dialysis patient (length of dialysis: 52.2 +/- 40.

Plasma level of lipoprotein Lp(a) is high in predialysis or hemodialysis, but not in CAPD.

Plasma Lp(a) lipoprotein level was determined in chronic renal failure (CRF) patients, 24 before initiation of dialysis, 18 undergoing hemodialysis, and 24 on continuous ambulatory peritoneal dialysis (CAPD). Eighteen healthy subjects were studied as controls. Median of Lp(a) level in both predialysis and dialysis patients was significantly increased: 23.

Incidence and clinical profile of microvascular complications in renal allografted patients treated with cyclosporine.

The incidence of cyclosporine (CsA) vascular toxicity is open to debate. We attempted to evaluate the incidence of hemolytic accidents in our series of patients taking all clinical forms into consideration. From January, 1989, to December, 1990, 117 patients received kidneys from cadaver donors and were treated with CsA.

[Auricular chondritis, malignant glomerulonephritis and pulmonary hemorrhage].

Relapsing polychondritis is a rare connective tissue disorder characterized by inflammation of cartilagenous structures such as ears, nose, joints, trachea and larynx. Renal disease is unusual. A 41 years old man presented with auricular chondritis, subacute renal failure and lung hemorrhage.

Plasmapheresis in a patient with severe asthma associated with auto-antibodies to platelets.

Although the pathogenesis of aspirin-sensitive asthma remains to be specified, it is known that in the presence of acetylsalicylic acid or non-steroidal anti-inflammatory drugs, platelets from aspirin-sensitive asthmatics have been described as generating cytocidal mediators that killed parasite targets such as Schistosoma mansoni larvae. Here we report, in a patient with corticosteroid-dependent asthma associated with aspirin sensitivity, the presence of circulating IgE antibodies against 55 kD and 68 kD platelet antigens. In addition, the serum from this patient was shown to contain a factor able to trigger the release of cytocidal mediators from his platelets as well as from normal individual platelets.

[Rapidly progressive glomerulonephritis in pneumoconiotic coal miners].

We review a series of 11 silicotic coal miners demonstrating a progressive renal failure with a syndrome of rapidly progressive glomerulonephritis. Renal biopsies reveal crescentic glomerulonephritides associated three times with angeitis. These cases confirm that silica induced glomerulonephritides can be an occupational hazard and warrant further clinical and epidemiological research.

Cytological and ultrastructural assessment of free crystals or precipitates associated with pseudoleukocytosis and pseudothrombocytosis in cryoglobulinemia.

In 3 patients with cryoglobulinemia (case 1: type I: cases 2 and 3: type II) spurious leukocyte and platelet counts were seen using automatic particle counters, with up to 2.5X and 3X counts for leukocytes and platelets respectively, with peculiar volume histograms. All these anomalies were absent with manual counting and were still evident in warmed blood samples from 1 of the 3 patients.