Вісник проблем біології і медицини, Випуск 3 (166)
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Документ Wilson’s disease and diagnostic challenges: clinical case(Полтавський державний медичний університет, 2022-10-19) Zhdan, V. N.; Kyrian, O. A.; Babanina, M. Yu.; Kitura, Ye. M.; Tkachenko, M. V.; Ждан, Вячеслав Миколайович; Кир'ян, Олена Анатоліївна; Бабаніна, Марина Юріївна; Кітура, Євдокія Михайлівна; Ткаченко, Максим ВасильовичThis article covers a case of a rare genetic disorder – Wilson’s disease. It is an autosomal recessive inherited disorder that attracts the close attention of scientists since the disease affects many organs and systems of a patient and can develop both in children and in adults. Wilson’s disease occurs with similar frequency throughout the world. It is caused by mutations in the ATP7B gene identified on the long arm of the 13th chromosome, as well as by the heterozygous carriage. The copper metabolism disorder determined by the genetic changes plays a major role in the development of Wilson’s disease. The excess copper accumulates in the liver parenchyma, nervous tissue and in the peripheral cornea (so-called Kayser-Fleischer rings) which results in subsequent organ damage. Since there is no unified examination that could confirm or rule out Wilson’s disease, it is necessary that doctors are able to define the symptoms of this disease. The early detection of symptoms and diagnostic studies can improve the disease prognosis. The aim of our research was to study the debut of Wilson’s disease in a 39-year-old patient with comorbid pathology. We also analyzed the difficulties of managing patients with Wilson’s disease in the example of this clinical case. We considered different mechanisms of the disease development and peculiarities of the diagnosis of atypical symptoms using international recommendations and protocols. The difficulty of our clinical case was that the symptoms of the disease with a comorbid pathology were atypical at the early stage of the illness. We did not detect damage to the nervous system, as well as ophthalmological features, and changes in the amount of free copper, ceruloplasmin levels and rate of 24-hour urinary copper excretion. It was proven that detection of these biochemical markers in blood and urine is important in ruling out Wilson’s disease in a patient with cirrhosis of the liver even if the other organs that were usually affected by copper were not damaged. Prompt diagnosis of the markers of Wilson’s disease and corresponding treatment can prevent the progression of the disease and its complications in such patients. Our research can be useful for gastroenterologists, neuropathologists, family physicians, and doctors of other specialties.Документ Подагрична нефропатія: вибір стартової терапії у коморбідного пацієнта(Полтавський державний медичний університет, 2022-10-19) Ждан, Вячеслав Миколайович; Ткаченко, Максим Васильович; Бабаніна, Марина Юріївна; Волченко, Григорій Вілійович; Кітура, Євдокія Михайлівна; Кир'ян, Олена Анатоліївна; Zhdan, V. M.; Tkachenko, M. V.; Babanina, M. Yu.; Volchenko, G. V.; Kitura, Ye. M.; Kyrian, O. A.The increase in the prevalence of gout leads to an increase in the frequency of concomitant diseases associated with a persistent increase in the level of uric acid (UA), the degree of decompensation associated with the frequency of arthritis exacerbations. A complex cascade of events is formed the pathogenetic mechanisms of which are closely related to the progress of each of its components. Ukrainian and international recommendations define the standards for the treatment of gouty arthritis, which provide for the mandatory achievement of the target level of UA in the blood serum. The need for a steady decrease to the target level is justified by the desire to influence the process of UA dissolution, the violation of which leads to the formation of urate crystals with their subsequent deposition in the joint cavity and soft tissues, exacerbation of arthritis and an increase in the probability of an undesirable result. Hypouricemic therapy is a mandatory component of standard drug therapy for patients with gout. The literature provides data on the severe febuxostat advantages over other hypouricemic agents. This work aimed to determine the possibility of obtaining a clinical and laboratory effect in a short time after the start of febuxostat therapy (up to 3 months) in patients with gouty nephropathy who have concomitant pathology. Achieving normouricemia in a patient with gout and comorbidities is essential for controlling the course of gout, preventing new gout attacks, and reducing the threat to life and health caused by comorbidities. Analysis of the use of febuxostat in our patients demonstrated the achievement of target values or a significant reduction in UA levels within 3 months of therapy.