<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.1234/XXXX-XXXX-2016-7-36-40</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-151</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ВСЕРОССИЙСКАЯ НАУЧНО-ПРАКТИЧЕСКАЯ КОНФЕРЕНЦИЯ «НОВЫЕ ТЕХНОЛОГИИ ДИАГНОСТИКИ НАСЛЕДСТВЕННЫХ БОЛЕЗНЕЙ», МОСКВА, 28-29 ОКТЯБРЯ 2016 Г.</subject></subj-group></article-categories><title-group><article-title>Острая порфирия с полиневропатией и положительным эффектом лечения глюкозой</article-title><trans-title-group xml:lang="en"><trans-title>Acute porphyria polyneuropathy and positive treatment effect glucose</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Котов</surname><given-names>С. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kotov</surname><given-names>S. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сидорова</surname><given-names>О. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Sidorov</surname><given-names>O. P.</given-names></name></name-alternatives><email xlink:type="simple">sidorovaop2008@rambler.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ГБУЗ МО Московский областной научно-исследовательский клинический институт им. М.Ф. Владимирского</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Moscow Regional Research and Clinical Institute</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2016</year></pub-date><pub-date pub-type="epub"><day>07</day><month>10</month><year>2016</year></pub-date><volume>15</volume><issue>7</issue><fpage>36</fpage><lpage>40</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Котов С.В., Сидорова О.П., 2016</copyright-statement><copyright-year>2016</copyright-year><copyright-holder xml:lang="ru">Котов С.В., Сидорова О.П.</copyright-holder><copyright-holder xml:lang="en">Kotov S.V., Sidorov O.P.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.medgen-journal.ru/jour/article/view/151">https://www.medgen-journal.ru/jour/article/view/151</self-uri><abstract><p>Приводится описание случая острой порфирии с полиневропатией с эффективным лечением глюкозой. Заболевание манифестировало в возрасте 36 лет с болей в животе, клинической картины пареза кишечника. Через 3 недели от начала заболевания возник тетрапарез, обусловленный поражением периферических нервов с преимущественным поражением проксимальных отделов конечностей. Появилась темная моча. Отмечалась тахикардия с частотой сердечных сокращений 125 в 1 минуту. Качественный тест мочи на порфирию с реактивом Эрлиха оказался положительным. Общие порфирины в моче были увеличены более чем в 10 раз, порфобилиноген был повышен более, чем в 100 раз, дельта-аминолевуленовая кислота была повышена почти в 15 раз. Диагностирована острая порфирия, тяжелое течение, сенсорно-моторная полиневропатия, тяжелый периферический вялый тетрапарез. Назначено лечение глюкозой в дозе 100 г, затем 250 г сухого вещества в течение суток. Также назначали витамины группы В (В1, В6, В12), альфа-липоевую кислоту по 600 мг внутрь. На фоне лечения глюкозой полностью восстановилась мышечная сила трехглавой мышцы плеча и подвздошно-поясничной мышцы. Значительно увеличилась сила дельтовидной мышцы. Сила сгибателей пальцев кистей также несколько увеличилась. Поэтому при ее неэффективности следующим этапом лечения порфирии назначают аргинат гема. В данном наблюдении глюкоза оказалась эффективной.</p></abstract><trans-abstract xml:lang="en"><p>The athors described the case of acute porphyria polyneuropathy with an effective treatment for glucose. The disease is manifest at the age of 36 years with abdominal pain, bowel clinical paresis. After 3 weeks from the onset of the disease originated tetraparesis due to peripheral nerve lesions with a primary lesion of the proximal extremities. There was a dark urine. There was a tachycardia with a heart rate of 125 1 per minute. The qualitative urine test for porphyria with Ehrlich’s reagent, which was positive. By quantifying total urinary porphyrins porphyrins were increased more than 10 times, porphobilinogen was increased more than 100 times, delta-aminolevulinic acid was increased almost 15-fold. The diagnose was acute porphyria, severe course, sensory-motor polyneuropathy, severe peripheral tetraparesis. The treatment was: glucose given treatment dosage of 100 g, then 250 g of dry matter during the day. Also appointed B vitamins (B1, B6, B12), alpha-lipoic acid 600 mg orally. The was a positive effect of the treatment. The muscle strength triceps muscle and the iliopsoas muscle became 5 points, the strength of the deltoid muscle increased significantly. The strength of the flexors of fingers also increased slightly. Consequently, for treatment of acute porphyria glucose effectively. Glucosa - inhibitor of synthetase enzyme i aminolevulinic acid. Glucose acts weaker arginate gem. Therefore, in the next stage of its inefficiency porphyria treatment prescribed heme arginate. In this case, glucose was effective. Appointment of haem arginate is not needed.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>порфирия</kwd><kwd>глюкоза</kwd><kwd>аргинат гема</kwd><kwd>porphyria</kwd><kwd>glucose</kwd><kwd>heme arginate</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010 Mar 13;375(9718):924-37. doi: 10.1016/S0140-6736(09)61925-5.</mixed-citation><mixed-citation xml:lang="en">Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010 Mar 13;375(9718):924-37. doi: 10.1016/S0140-6736(09)61925-5.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Kauppinen R, von und zu Fraunberg M. Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families. Clin Chem. 2002 Nov;48(11):1891-900. doi: 10.1373/clinchem.2011.162388.</mixed-citation><mixed-citation xml:lang="en">Kauppinen R, von und zu Fraunberg M. Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families. Clin Chem. 2002 Nov;48(11):1891-900. doi: 10.1373/clinchem.2011.162388.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Nordmann Y, Puy H, Da Silva V, Simonin S, Robreau AM, Bonaiti C, Phung LN, Deybach JC. Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France. J Intern Med. 1997 Sep;242(3):213-7. doi: 10.1111/imj.13127.</mixed-citation><mixed-citation xml:lang="en">Nordmann Y, Puy H, Da Silva V, Simonin S, Robreau AM, Bonaiti C, Phung LN, Deybach JC. Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France. J Intern Med. 1997 Sep;242(3):213-7. doi: 10.1111/imj.13127.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Simon NG, Herkes GK. The neurologic manifestations of the acute porphyrias. J Clin Neurosci. 2011 Sep;18(9):1147-53. doi: 10.1016/j.jocn.2011.01.003.</mixed-citation><mixed-citation xml:lang="en">Simon NG, Herkes GK. The neurologic manifestations of the acute porphyrias. J Clin Neurosci. 2011 Sep;18(9):1147-53. doi: 10.1016/j.jocn.2011.01.003.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Straume Z, Skuja V, Proskurina A, Malina J, Hasnere S, Krupnova I, Lejnieks A, Derovs A. Think porphyria: case report and review of literature. Eksp Klin Gastroenterol. 2015;(7):69-77.</mixed-citation><mixed-citation xml:lang="en">Straume Z, Skuja V, Proskurina A, Malina J, Hasnere S, Krupnova I, Lejnieks A, Derovs A. Think porphyria: case report and review of literature. Eksp Klin Gastroenterol. 2015;(7):69-77.</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
