Terapevt Arkh
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Hypogammaglobulinemic sprue (HGGS) belongs to orphan (rare) diseases. Its basis is a concurrence of primary immunodeficiency and celiac disease. The clinical picture of HGGS is characterized by recurrent bacterial infection foci, chronic diarrhea, and severe malabsorption syndrome (MAS). ⋯ The disease was characterized by recurrent lung and kidney inflammatory foci concurrent with chronic diarrhea and grade 3 MAS. There was a dramatic reduction in GG, IgG, and IgA levels. Clinical remission and small intestinal mucosal structural recovery occurred due to GFD.
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The paper describes a clinical case of Behçet's disease accompanied by oral aphthous elements and external genital sores. The disease occurred after an infectious and inflammatory process in the oropharynx; chronic erythema nodosum and arthritides were successively diagnosed. A set of anamnestic data and clinical and laboratory examinations could establish a correct diagnosis.
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The paper gives an update on orphan (rare) hereditary and congenital diseases and their definitions and considers approaches to estimating their incidence and prevalence and the existing problems of their diagnosis and treatment in the world and our country. It lists the hereditary diseases and syndromes belonging to rare conditions. The paper presents (considers) the most relevant problems of rare diseases, which call for priority solution.
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The paper discusses the problem of free drug provision as an integral part of medical care in the amount of state guarantees and lists legislative contradictions that cause the above violation. It clarifies the concept of the drug legal status, by using examples, and on this basis considers whether the patients needing therapy with orphan drugs may have access to drug provision. The author analyzes normative legal acts regulating the drug provision in patients with rare (orphan) diseases and on this basis formulates a number of proposals to enhance both the availability of drug therapy to these patients and the efficiency of medical care to them, including suggestions to be considered by the State Duma, the Government of the Russian Federation and its subjects.
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The paper describes a unique case of a large abdominal urate mass with a peculiar inflammatory process with giant cells and smaller urate deposits in the lung and small bowel without articular changes and kidney injury in a patient with terminal heart failure.