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Congenital nephrotic syndrome (CNS) is a heterogeneous group of diseases with different causes and prognoses. Two thirds of cases of NS in the first year of life are caused by mutations in four genes (NPHS1, NPHS2, WT1, and LAMB2). The mutation of WT1 gene can lead to Denys-Drash syndrome (DDS). We report on female monozygotic twins with CNS presenting at 7(More)
AIM Obstructive uropathies (OU) in childhood constitute one of the major causes of chronic renal insufficiency. Transforming growth factor-β1 (TGF-β1) is considered to be the major fibrogenic growth factor. The aim of the present study was to investigate urinary TGF-β1 levels in children with obstructive and non-obstructive uropathies (NOU). METHODS This(More)
Cardiovascular disease is a major cause of morbidity and mortality in young adults with end-stage renal disease (ESRD), but its basis is still not well understood. We therefore evaluated the determinants of atherosclerosis in children with ESRD. A total of 37 children with ESRD (with 31 who had undergone transplantation) were examined and compared to a(More)
Electrolyte disorders can result in life-threatening complications. The kidneys are tasked with maintaining electrolyte homoeostasis, yet the low glomerular filtration rate of neonatal kidneys, tubular immaturity, and high extrarenal fluid losses contribute to increased occurrence of electrolyte disorders in neonates. Understanding the physiologic basis of(More)
UNLABELLED Hypokalaemia is a common electrolyte disorder in children, caused by decreased potassium intake, increased gastrointestinal and urinary losses or transcellular shift. Patients with severe hypokalaemia may suffer from symptoms such as life-threatening cardiac arrhythmias. The aim of our study was to review the aetiology of hypokalaemia, suggest a(More)
AIM Paediatric hyponatraemia is usually caused by an excess of antidiuretic hormone and may lead to serious neurological complications. It is challenging for clinicians to differentiate between conditions causing excess water and salt loss. This review analyses individual causes of hyponatraemia and focuses on optimal diagnostic algorithms and treatment(More)
BACKGROUND Primary focal segmental glomerulosclerosis (FSGS) is a glomerular disease, characterized by progressive renal function deterioration, nephrotic proteinuria, and risk of chronic renal failure. We present long-term results of 5 patients with primary FSGS and recurrence of nephrotic proteinuria after renal transplantation treated with plasma(More)
Autoimmunity is often observed among individuals with primary immune deficiencies; however, the frequency and role of autoimmunity in Schimke immuno-osseous dysplasia (SIOD) has not been fully assessed. SIOD, which is caused by mutations of SMARCAL1, is a rare autosomal recessive disease with its prominent features being skeletal dysplasia, T cell(More)