Nocna napadowa hemoglobinuria u dzieci jako przykład rzadkich schorzeń ukrywających się pod różnymi maskami rozpoznań klinicznych. Dylematy kliniczne, etyczne i społeczne rozpoznawania chorób ultrarzadkich na kanwie przypadku

*Marek W. Karwacki, Anna Adamowicz-Salach, Michał Matysiak, Aleksandra Pankiewicz

Summary
Paroxysmal nocturnal hemoglobinuria (PNH) is an extremely rare disease in children resulted from clonal hematopoietic stem cell proliferation triggered by acquired somatic mutation of the PIGA gene. As a consequence, a deficiency of surface proteins, e.g. responsible for protection of the untouched myeloid progenitor cells from the complement aggression, is observed. It is characterized by intra and extravascular hemolysis, various degrees of bone marrow failure and a tendency to thrombophilia with multifocal thrombosis, especially affecting visceral circulation. The aim of the case description concerning a 16 years old boy with more than 4 years delay in proper diagnosis resulted from the abdominal mask of PNH, is to draw the attention of pediatrician to identifiable diagnostic problems, when the one has had to face with rare diseases. Many, even well-known and described disorders in adults had an unexpected course in children with significant differences resulting in various clinical masks leading to misdiagnosis. Overlapping symptomatology between popular and unique disorders of childhood may be responsible for misdiagnosis as well, what demand the specific clinical awareness and response. The other, but not less important aspect of presented case report, describing such a unique disease of childhood treated with one of the most expensive therapy in the world, is important question of the ethical and socio-economic borders of modern medical therapies. All the aspect of clinical and ethical problems comprises the subject of this publication.

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