Вторичные порфиринурии

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Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016; 15: 46-53

Вторичные порфиринурии

Федорова Дарья Викторовна, Хомякова Светлана Прокофьевна, Козловский Андрей Станиславович, Сурин Вадим Леонидович

https://doi.org/10.24287/1726-1708-2016-15-3-46-53

Аннотация

В статье приведен обзор данных литературы относительно вторичных нарушений метаболизма предшественников гема и их клинической значимости в контексте дифференциальной диагностики с «истинными» наследственными порфириями. Вторичные нарушения порфиринового обмена являются малоизученной проблемой. Принято считать, что аккумуляция копро- и уропорфиринов сама по себе не может вызвать неврологическую симптоматику, сходную с таковой при острых печеночных порфириях. Вместе с тем, в литературе можно найти описания пациентов с остро возникшими полинейропатиями или энцефалопатиями, у которых обнаруживали копропорфиринурию. Авторы подчеркивают значимость исключения острых порфирий у пациентов с сочетанием полинейропатии и абдоминального болевого синдрома, фоточувствительности, вегетативной дисфункции. Кроме того, в статье приведены четыре собственных клинических наблюдения пациентов детского и подросткового возраста, у которых на основании клинической картины было заподозрено наличие острой порфирии. Однако в результате обследования было выявлено только умеренное повышение экскреции поздних предшественников гема. Таким образом, диагноз острой печеночной порфирии не был подтвержден. Вместе с тем, генез вторичной порфиринурии у данных пациентов, как и причинноследственная связь неврологической симптоматики и нарушений порфиринового обмена, осталась невыясненной.

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Pediatric Hematology/Oncology and Immunopathology. 2016; 15: 46-53

Secondary porphyrinurias

Fedorova Darya V., Khomyakova Svetlana P., Kozlovskiy Andrey S., Surin Vadim L.

https://doi.org/10.24287/1726-1708-2016-15-3-46-53

Abstract

The article reviews literature data dealing with secondary metabolic disorders of heme precursors and their clinical significance in the context of differential diagnosis with « genuine » hereditary porphyrias. Secondary disorders of porphyrin metabolism are an insufficiently studied problem. As has been acknowledged, accumulation of copro- and uroporphirins itself cannot cause neurological symptoms similar to such in acute hepatic porphyrias. Nevertheless, the bulk of literature contains descriptions of patients with acute-onset polyneuropathies or encephalopathies, in whom coproporphyrinuria was found. The authors put emphasis on the importance of ruling out acute porphyrias in patients with combinations of polyneuropathy and abdominal pain syndrome, photosensitivity, autonomic dysfunction. Also, the article presents four authentic clinical observations of paediatric and adolescent patients, in whom acute porphyria was suspected on the basis of the clinical picture. Examination, however, revealed only a moderate increase of excretion of late heme precursors. Therefore, the diagnosis of acute hepatic porphyria was not confirmed. On the other hand, the genesis of secondary porphyrinuria in such patients, as well as the causative relations between neurological symptoms and disorders of porphyrin metabolism remain unclear.

References