Bacground. The optimization of Wilson’s disease (WD) diagnosis is one of the most disputable problem. Objective. The retrospective study of initial assessment findings under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Material and methods. The results of laboratory tests and Kaiser-Fleischer rings (KF rings) identification under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Results. At stage I, 17 patients (16.7%; 95% CI 10.7–25.1) were defined as having clinically definitive WD based on the combination of low serum ceruloplasmin and KF rings, 4 patients (3.9%; 95% CI 1.5–9.7) – based on the drop of ceruloplasmin level. After stage II, involving 24-hour urinary copper excretion evaluation, the rate of definitive diagnosis of WD reached 24,5% (95% CI 17.2 33.7). After stage III (genotyping for carriage of ATP7B gene mutations) – 56.9% (95% CI 47.2–66.0). Serum free copper increase was found in 54.9% (95% CI 41.4 67.7) of cases. Conclusions. Under clinical suspicion for WD, initial structured ophthalmological, laboratory and molecular-genetic assessment ensured the diagnosis of WD only in 56.9% (95% CI 56.9; 47.2–66.1). Frequent detection of serum free copper increase (54.9%, 95% CI 41.4 67.7) allows to use this test due to its greater availability as compared with 24-hour urinary copper excretion evaluation in WD diagnostics.
Fructose is a simple sugar that is present in fruit and honey, but is also a major component in the two most commonly used sweeteners, sucrose (table sugar), and high fructose corn syrup (HFCS). Intake of fructose has increased markedly over the last several hundred years, and currently the intake of added sugars approaches 15 percent of overall energy intake in the average western diet. The prevalence of fructose malabsorption is relatively high in healthy adults (~ 34 %) and is even greater in patients with functional gastrointestinal disorders. Symptoms following fructose ingestion, or fructose intolerance, are common in patients with irritable bowel syndrome (IBS). Due to the paucity of targeted therapy for IBS, many patients turn to dietary modifications for symptom management. In recent years the low-FODMAPs diet for treatment of IBS has gained increasing popularity. The acronym FODMAP stands for “fermentable oligosaccharides, disaccharides, monosaccharides, and polyol” and includes foods with fructose in excess of glucose, oligosaccharides including fructans, galacto-oligosaccharide and sugar polyols such as sorbitol and mannitol and lactose. The composition of FODMAPs diets and their mechanisms of action in IBS have been intensively studied in the past decade, but since this link is not specific to fructose. Dietary FODMAP might exacerbate intestinal symptoms by increasing small intestinal water volume, colonic gas production, and intestinal motility. Dietary FODMAPs restriction is associated with reduced fermentation and significant symptom improvement in some IBS patients.
Congenital hereditary non-conjugate hyperbilirubinemias include Gilbert’s syndrome, Crigler-Najjar type 1 and Crigler-Najjar type 2 syndromes (or Arias’ disease). They are caused by a hereditary deficiency of the enzyme - bilirubinuridine-5’-diphosphate glucuronosyltransferase (UGT1A1), involved in the glucuronization of bilirubin. The enzyme deficiency is due to mutations in the UGT1A1 gene, which provides UGT1A1 activity. Complete or almost complete loss of (Crigler-Najjar syndrome type 1) or decreased UGT1A1 activity (Gilbert’s syndrome and Crigler-Najjar syndrome type 2) lead to impaired conversion of bilirubin in the liver with the accumulation of unconjugated bilirubin in the blood. Syndromes are distinguished by the level of bilirubin in blood plasma, the reaction to the introduction of phenobarbital, the presence or absence of bilirubin glucuronides in bile.
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