Anamarija Meglič

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Alport syndrome (ATS) and benign familial hematuria (BFH) are type IV collagen inherited disorders. Mutations in COL4A5 are generally believed to cause X-linked ATS, whereas mutations in COL4A3 and COL4A4 genes can be associated with the autosomal-recessive and -dominant type of ATS or BFH. In view of the wide spectrum of phenotypes, an exact diagnosis is(More)
Focal segmental glomerulosclerosis is sometimes associated with a circulating permeability factor. It was proposed that this factor interacts with the sugars of the glycocalyx, and its high affinity for galactose was shown on the basis of chromatographic studies. Galactose inactivates it and seems to lead to its clearance from plasma. A toddler with a(More)
Alport syndrome is an important hereditary disorder characterized by nephritis and sometimes accompanied by impairment or loss of vision and hearing. The most common form of Alport syndrome is an X-linked dominant trait that has been associated with the gene COL4A5, one of the six types of IV collagen genes. More than 300 different mutations have been(More)
The objectives of this study were to follow up children with vesico-ureteric reflux (VUR) and renal scars, to evaluate kidney growth and to determine the incidence of urinary tract infection (UTI) and elevated blood pressure in 40 asymptomatic siblings of children with VUR, in whom VUR had been detected at an early age, and to gather additional data which(More)
A 4-year-old boy with an atypical course of haemolytic uremic syndrome (HUS), who developed microangiopathic antiphospholipid-associated syndrome (MAPS) with signs of multiple organ failure during the course of his disease, is reported. Early and aggressive treatment with intravenous gammaglobulin, pulse methylprednisolone and plasmapheresis resulted in an(More)
The aim of this study was to investigate whether erythrocyte deformability is higher in otherwise healthy children and adolescents with asymptomatic isolated glomerular microhematuria and no clinical or laboratory signs indicating renal disorder. Erythrocyte deformability in 33 children and adolescents with unexplained asymptomatic isolated glomerular(More)
AIM To determine the occurrence of primary nocturnal enuresis in 5-year-old outpatients in Slovenia and the possible correlations with different factors. METHODS The epidemiological study was conducted in Slovenia between 2005 and 2007. A special questionnaire was distributed randomly among the parents of 1846 5-year olds in children's outpatient clinics(More)
Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant pain disorder linked to a mutation in the SCN9A gene, which encodes voltage-gated sodium channel Nav1.7. Abnormal pain sensitivity occurs because of changes in the properties of voltage-gated sodium channels. Different mutations in SCN9A and a spectrum of clinical expressions have been(More)
Our aim was to evaluate the efficacy of our treatment program for children with lower urinary tract conditions, developed at the Department of Pediatric Nephrology of the University Children’s Hospital in Ljubljana. Sixty-four patients with lower urinary tract conditions were randomly allocated to two groups. Group A received treatment immediately, whereas(More)
Urogenital infection with Chlamydia trachomatis in adults and adolescents is a common sexually transmitted disease. The purpose of this study was to investigate whether isolated microhematuria in children and adolescents is associated with Chlamydia trachomatis infection of the urinary tract. The study group included 37 children and adolescents with(More)
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