Molecular characterization of cystinuria in south-eastern European countries.

Cystinuria is an autosomal recessive disorder caused by defective transport of cystine and dibasic amino acids in the proximal renal tubules and small intestine. So far, more than 128 mutations in SLC3A1 gene, and 93 in SLC7A9 gene have been described as a cause of cystinuria. We present a molecular characterization of the cystinuria in 47 unrelated south-east European families.

Oxidative stress in children with kidney disease.

The aim of this work was to study the dynamics of oxidative stress in the blood and urine of children with kidney diseases: glomerulonephritis (GN), pyelonephritis (PN), renal failure (RF), and lower urinary tract infections (LUTI). The concentration of conjugated dienes is increased in blood: GN 4 times and RF up to 2 times; and extremely increased in urine: GN 12 times and RF 4 times. The concentration of thiobarbituric acid reactive substances in urine shows a similar trend: GN 7 times, PN 2 times, RF 1.

Hypertension in children with chronic renal failure.

Systemic hypertension (HTN) is one of the major problems associated with chronic renal failure (CRF). HTN is a symptom and complication of CRF. The prevalence of HTN varies with the cause of CRF.

PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells.

Mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene have been shown to cause autosomal recessive polycystic kidney disease (ARPKD), but the cellular functions of the gene product (PKHD1) remain uncharacterized. To illuminate its properties, the spatial and temporal expression patterns of PKHD1 were determined in mouse, rat, and human tissues by using polyclonal Abs and mAbs recognizing various specific regions of the gene product. During embryogenesis, PKHD1 is widely expressed in epithelial derivatives, including neural tubules, gut, pulmonary bronchi, and hepatic cells.

Combined T- and B-cell activation in childhood steroid-sensitive nephrotic syndrome.

Background: Growing evidence shows that steroid-sensitive nephrotic syndrome (SSNS) is the result of a primary T-cell disturbance and leads to secondary anatomical and functional, however, not to immunological glomerular changes. In addition, immunoglobulin abnormalities in SSNS indicate a role of B-cell involvement.

Patients And Methods: We therefore analyzed T- and B-cell activation markers in children with SSNS at different stages of the disease including different treatment regimens by measuring the soluble IL-2 receptor (sCD25) and the soluble low-affinity IgE receptor (sCD23), respectively.

Recombinant human growth hormone therapy in autosomal recessive polycystic kidney disease.

Patients with autosomal recessive polycystic kidney disease (ARPKD) may have growth retardation that is disproportionate to the degree of renal dysfunction. We treated growth-retarded ARPKD patients with recombinant growth hormone (rhGH) and document the response to therapy and effect of rhGH on the rate of progression of renal failure. The diagnosis of ARPKD and congenital hepatic fibrosis was made on the basis of clinical findings and by abdominal ultrasound examinations.

Intracranial aneurysms in a child with autosomal recessive polycystic kidney disease.

Intracranial aneurysms (ICA) are a well-known feature of autosomal dominant polycystic kidney disease. There is only one report about ICA in an adult patient with autosomal recessive polycystic kidney disease (ARPKD). We observed a 2-year, 6-month old girl with ARPKD and multiple ICA.

Thromboembolic complications in children with nephrotic syndrome in Bulgaria (1974-1996).

Over a period of 22 years, 447 children with nephrotic syndrome (NS) have been retrospectively studied for clinically apparent thromboembolic complications (TEC). The incidence of TEC is 2% (9/447); 16 clinically apparent TEC were registered in 9 children. The incidence of TEC was 1.

Budd-Chiari syndrome and inferior vena cava thrombosis in a nephrotic child.

We observed Budd-Chiari syndrome in a boy aged 2 years 6 months with nephrotic syndrome due to hepatic vein and inferior vena cava thrombosis, confirmed by Doppler imaging. Normal values of the routine hemostatic parameters proved that they are of little predictive value for the thrombotic state. Immediate heparin infusion was initiated.