[Report from 17th congress of European Sleep Research Society].
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to Jolanta Wasilewska.
Explore the source record for details and available documents.
The authors present the case of 4-month-old girl, who was admitted to our hospital with hypokalemia, metabolic alkalosis, hyperaldosteronism, hyperreninism with normal blood pressure and high urine concentration of PGE2. All the clinical and biochemical features have led to the diagnosis of Bartter syndrome. Treatment consisted of 15% KCI, spironolacton and indometacin.
Bartter syndrome is an uncommon tubular disorder inherited as an autosomal recessive entity. It is associated with hypokalemic metabolic alkalosis with high renin and aldosterone plasma concentration with low or normal blood pressure. Recent studies have demonstrated genetic heterogeneity in Bartter syndrome. Mutations of two genes encoding the Na/K/2Cl cotransporter and potassium channel ROMK are responsible for clinical features of neonatal Bartter syndrome. Mutations of gen encoding the chloride channel ClC-Kb is identified as being causative for the classic Bartter syndrome. And dysfunction of Na/Cl cotransporter in the distal convoluted renal tubule is described as Gitelman syndrome.
Alkaptonuria is a rare metabolic condition caused by congenital homogentisate oxidase deficiency of recessive inheritance. Homogentisate polymers are accumulated and cause urine darkening, brown pigmentation of connective tissue, articular cartilage pathology. The authors present clinical picture, pathogenesis, diagnostic and therapeutic possibilities in patients with alkaptonuria. Two siblings with alkaptonuria are described.
BACKGROUND: The most common tools of allergologic diagnostics are skin prick tests (SPT) and total serum IgE (IgE(total)) determinations. MATERIAL/METHODS: The study was carried out in a group of 348 children aged 5 to 36 months. All the children underwent SPT using 12 food allergens and in 229 of them also 9 inhalant allergens were tested. Assessment of test positivity utilized relative criteria, i.e. the result was regarded as positive if a wheal with S surface area exceeding or equal to 0.25 of the surface area S0 of a control wheal was formed. In this study group, 291 had IgE(total) levels determined. They were divided into the groups with elevated and normal IgE(total) levels on the basis of two standards, i.e. the standards recommended by the manufacturer of the test reagents used to determine IgE(total) (BioWhittaker) and the population standards. RESULTS: Positive SPT results for food allergens were obtained in 15.8% of the examined children, for inhalant ones in 21.8%. The factors taken into account in the analysis of impact on SPT results included age, sex, living place and the use diet. Elevated IgE(total) levels according to the manufacturer's standards were detected in 35.0%, and according to the population standards in 67.0% of the examined children. The obtained positive test results were compared with elevated IgE(total) in the studied patients. CONCLUSIONS: 1. Feasibility of SPT at this age. 2. Determination of normal IgE(total) range in the group of children below three requires further studies.