OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.

Background: Oculocerebrorenal (Lowe) syndrome is an X-linked multisystem disease characterized by renal proximal tubulopathy, mental retardation, and congenital cataracts. We present a 19-year-old boy who was found to have low molecular weight proteinuria, hypercalciuria, mild generalized hyperaminoaciduria and intermittent microscopic hematuria at the age of 3.

Methods: Standard clinical and biochemical examinations and mutational analysis of the CLNC5 and OCRL1 gene were performed for the patient.

Clinical and laboratory features of Macedonian children with OCRL mutations.

OCRL mutations, which are a hallmark of Lowe syndrome, have recently been found in patients with isolated renal phenotype (Dent-2 disease). In this report, we describe clinical and laboratory features in five Macedonian children with mutations in the OCRL gene. Children with a clinical diagnosis of Lowe syndrome or Dent disease underwent complete neurological and ophthalmological examination, imaging of the kidney and urinary tract, assessment of renal tubular function, and mutation analysis of the OCRL gene.

Atypical presentation of distal renal tubular acidosis in two siblings.

Primary distal renal tubular acidosis (dRTA) is an inherited disease characterized by the inability of the distal tubule to lower urine pH <5.50 during systemic acidosis. We report two male siblings who presented with severe hyperchloremic metabolic acidosis, high urinary pH, nephrocalcinosis, growth retardation, sensorineural hearing loss, and hypokalemic paralysis.

Erythrocyte antioxidant enzymes in patients with alcohol dependence syndrome.

Background: The role of free radicals and hydrogen peroxides in the metabolism and toxicity of alcohol is supported by many studies, therefore, many autors have tried to use the enzymes, metabolizing highly reactive chemical compounds as biological markers of alcoholism.

Methods: Erythrocyte antioxidant enzymes were measured in 37 male patients with alcohol dependence syndrome, without severe liver disease, aged between 18 and 59 years, with different duration (years) of alcohol abuse.

Results: Superoxide dismutase (SOD) activity was statistically significantly increased in alcoholics.

Effect of angiotensin II type 1 (AT1) receptor antagonist on the endothelial dysfunction in spontaneously hypertensive rats in correlation with the nitric oxide system.

Background: Hypertension is associated with impaired endothelial function, which can be explained by a decrease in nitric oxide (NO) generation or by an enhanced inactivation of NO after its release from endothelial cells.

Objectives: The aim of this study was to investigate the effect of long-term treatment with losartan, an angiotensin II (AT1) receptor antagonist, on endothelial dysfunction in an animal model of hypertension in relation to the nitric oxide system.

Methods: Losartan was administered to 48 sixteen-week-old spontaneously hypertensive rats, in a dose of 10 mg/kg bw/daily in drinking water, for 12 weeks.

Erythrocyte superoxide dismutase, glutathione peroxidase and catalase activities in healthy male subjects in Republic of Macedonia.

Objectives: The study was aimed to establish the reference values for erythrocyte antioxidant enzymes, superoxide dismutase (SOD), glutathione peroxidase (GPX) and catalase (CAT) in healthy male subjects, as well as to detect their relation to age, cigarette smoking, moderate alcohol consumption, antiinflammatory drugs and supplements use and the possible correlation between individual parameters.

Background: Superoxide dismutase, glutathione peroxidase and catalase are the three main enzymes that control the biological effects of the reactive oxygen species (free radicals).

Methods: The authors have examined 111 healthy male blood donors aged 18-59 years.

Mild rhabdomyolysis in a child with fever and "hematuria".

Rhabdomyolysis represents a life-threatening condition, which results in release of cellular contents (myoglobin, enzymes, and electrolytes) into the plasma. We report a pediatric patient with mild rhabdomyolysis who had a favorable outcome. A 3-year-old girl had been ill for 2 days with high fever, anorexia, pain in both thighs, and passage of dark-red urine.

Idiopathic hypercalciuria preceding IgA nephritis in a child with recurrent hematuria.

A 5-year-old boy was investigated after an episode of gross hematuria of non-glomerular origin and was found to have idiopathic hypercalciuria. Despite normalization of calciuria he had recurrent attacks of gross hematuria. Since SDS-PAGE analysis of urinary proteins indicated a glomerular origin of hematuria, a renal biopsy was performed and revealed IgA nephropathy.

Stress tolerance test and SDS-PAGE for the analysis of urinary proteins in children and youths.

Excretion of urinary proteins (UP) is an important marker for the evaluation of patients with progressive renal disease. In order to analyze quantitative and qualitative variability of UP in relation to physical activity, we used standardized stress tolerance test and SDS-PAGE. Five urine samples were obtained from each patient at rest, during ordinary daily activity and after physical stress.

Difference between orthostatic and march functional proteinuria by application of stress tolerance test and SDS-PAGE.

We introduced minimal necessary criteria and methods for noninvasive laboratory diagnosis and follow-up of functional proteinuria in youths: stress tolerance test, determination of total urinary proteins (TP) and their separation and identification with gradient SDS-PAGE. Renal functional adaptability in conditions of complete rest, in routine daily activity and after several hours of active physical effort has been evaluated by the tolerance test. Excretory urinary proteins, as the most appropriate markers, were analyzed with noninvasive methods.