Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children11410.24287/1726-1708-2015-14-3-65-69CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯA clinical case report of acute intermittent porphyria in a patient aged 9 yearsКлинический случай острой перемежающейся порфирии у пациента 9 летFedorovaD. V.ФедороваД. В.
Russian Federation
darya.v.fedorova@gmail.comKarpovaI. V.КарповаИ. В.
Russian Federation
karpova@blood.ruOrlovaE. V.ОрловаЕ. В.
Russian Federation
OrlovaE1@yandex.ruSurinV. L.СуринВ. Л.
Russian Federation
vadsurin@mail.ruKhachatryanL. A.ХачатрянЛ. А.
Russian Federation
lili.2510@yandex.ruSmetaninaN. S.СметанинаН. С.
Russian Federation
Nataliya.Smetanina@fccho-moscow.ruFederal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry RogachevФедеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева Минздрава РоссииHematological CenterГематологический научный центр Минздрава РоссииRegional Pediatric HospitalОбластная детская больницаRussian National Research Medical University named after N.I.PirogovРоссийский национальный исследовательский медицинский университет им. Н.И.Пирогова Минздрава России19092015143656919092018Copyright ©; 2015, «D. Rogachev NMRCPHOI»Copyright ©; 2015, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2015«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/114

The debut of acute intermittent porphyria in a prepubertal patient is described. This clinical case report illustrates the difficulties in the diagnosis of the disease with its great variety of nonspecific symptoms. The authors emphasize the need to include acute porphyrias in the range of differential diagnostic search in patients with abdominal pain which cannot be attributed to more common causes, particularly in cases when intense abdominal pain is associated with psychoneurological symptoms and changed color of the urine.

В статье описан случай дебюта острой перемежающейся порфирии у пациента препубертатного возраста. Приве- денное клиническое наблюдение иллюстрирует сложность диагностики данного заболевания, обусловленную разно- образием и неспецифичностью его симптомов. Подчеркнута необходимость включения острых порфирий в круг дифференциально-диагностического поиска у пациентов с абдоминальным болевым синдромом, необъяснимым более распространенными причинами, особенно в тех случаях, когда интенсивная боль в животе сочетается с психо- неврологической симптоматикой и изменениями окраски мочи.

детиострая перемежающаяся порфирияабдоминальный болевой синдромпсихоневрологическая симптоматикадиагностикаchildrenacute intermittent porphyriaabdominal painpsychoneurological symptomsdiagnosisJames MF, Hift RJ. Porphyrias. Br J Anaesth. 2000;85(1):143-53Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010;375(9718):924-37Siegesmund M, van Tuyll van Serooskerken AM, Poblete-Gutiérrez P, Frank J. The acute hepatic porphyrias: current status and future challenges. Best Pract Res Clin Gastroenterol. 2010;24(5):593-605Stein P, Badminton M, Barth J, Rees D, Stewart MF; British and Irish Porphyria Network. Best practice guidelines on clinical management of acute attacks of porphyria and their complications. Ann Clin Biochem. 2013;50(3):217-23Ventura P, Cappellini MD, Rocchi E. The acute porphyrias: a diagnostic and therapeutic challenge in internal and emergency medicine. Intern Emerg Med. 2009;4(4):297-308García-Diz L, Murcia MA, Gris JL, Pons A, Monteagudo C, Martínez-Tomé M, et al. Assessing nutritional status of acute intermittent porphyria patients. Eur J Clin Invest. 2012;42(9):943-52Herrick AL, McColl KE. Acute intermittent porphyria. Best Pract Res Clin Gastroenterol. 2005;19(2):235-49Marsden JT, Rees DC. Urinary excretion of porphyrins, porphobilinogen and -aminolaevulinic acid following an attack of acute intermittent porphyria. J Clin Pathol. 2014;67(1):60-5Lin CS, Lee MJ, Park SB, Kiernan MC. Purple pigments: the pathophysiology of acute porphyric neuropathy. Clin Neurophysiol. 2011;122(12):2336-44Sonderup MW, Hift RJ. The neurological manifestations of the acute porphyrias. S Afr Med J. 2014;104(4):285-6Anyaegbu E, Goodman M, Ahn SY, Thangarajh M, Wong M, Shinawi M. Acute intermittent porphyria: a diagnostic challenge. J Child Neurol. 2012;27(7):917-21Hultdin J, Schmauch A, Wikberg A, Dahlquist G, Andersson C. Acute intermittent porphyria in childhood: a population-based study. Acta Paediatr. 2003;92(5): 562-8Andersson C, Wikberg A, Stegmayr B, Lithner F. Renal symptomatology in patients with acute intermittent porphyria. A population-based study. J Intern Med. 2000;248(4):319-25Stewart MF. Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow- up. J Clin Pathol. 2012;65(11):976-80Hift RJ, Thunell S, Brun A. Drugs in porphyria: From observation to a modern algorithm-based system for the prediction of porphyrogenicity. Pharmacol Ther. 2011;132(2):158-69Сурин ВЛ, Лучинина ЮА, Селиванова ДС, Пустовойт ЯС, Карпова ИВ, Пивник АВидр. Молекулярно-генетическое исследование острой перемежающейся пор- фирии в России: мутационный анализ и поиск функциональных полиморфиз- мов в гене порфобилиногендезаминазы. Генетика. 2010;46(4):540-52Beliaev AM, Foliaki A, Ha L, Boswell DR. Acute non-specific abdominal pain with port-wine urine. ANZ J Surg. 2012;82(6):478-9Cuquemelle É, Ehrmann S, Razazi K, Deybach JC, Brun-Buisson C, Thille AW. An atypical case of Guillain-Barré syndrome: acute intermittent porphyria. Intensive Care Med. 2012;38(5):913-4Ferreira FR, Silva CA, Costa SX. Acute intermittent porphyria, an important and rare differential diagnosis of acute abdomen: case report and literature review. Rev Bras Ter Intensiva. 2011;23(4):510-4Santos AB, Gozzani JL, Groke DF. Neuropathic pain in a patient with porphyria. Case report. Rev Bras Anestesiol. 2010;60(6):634-8, 352-4Shen FC, Hsieh CH, Huang CR, Lui CC, Tai WC, Chuang YC. Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome. Acta Neurol Taiwan. 2008;17(3):177-83Zhao B, Wei Q, Wang Y, Chen Y, Shang H. Posterior reversible encephalopathy Lin CS, Lee MJ, Park SB, Kiernan MC. Purple pigments: the pathophysiology of acute porphyric neuropathy. Clin Neurophysiol. 2011;122(12):2336-44Sonderup MW, Hift RJ. The neurological manifestations of the acute porphyrias. S Afr Med J. 2014;104(4):285-6Anyaegbu E, Goodman M, Ahn SY, Thangarajh M, Wong M, Shinawi M. Acute intermittent porphyria: a diagnostic challenge. J Child Neurol. 2012;27(7):917-21Hultdin J, Schmauch A, Wikberg A, Dahlquist G, Andersson C. Acute intermittent porphyria in childhood: a population-based study. Acta Paediatr. 2003;92(5):562-8Andersson C, Wikberg A, Stegmayr B, Lithner F. Renal symptomatology in patients with acute intermittent porphyria. A population-based study. J Intern Med. 2000; 248(4):319-25Stewart MF. Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow- up. J Clin Pathol. 2012;65(11):976-80Hift RJ, Thunell S, Brun A. Drugs in porphyria: From observation to a modern algorithm-based system for the prediction of porphyrogenicity. Pharmacol Ther. 2011;132(2):158-69Surin VL, Luchinina YA, Selivanova DS, Pustovoit YS, Karpova IV, Pivnik AV, et al. Molecular genetic study of acute intermittent porphyria in Russia: Mutation analysis and functional polymorphism search in porphobilinogen deaminase gene. Genetika. 2010;46(4):540-52. (In Russian)Beliaev AM, Foliaki A, Ha L, Boswell DR. Acute non-specific abdominal pain with port-wine urine. ANZ J Surg. 2012;82(6):478-9Cuquemelle É, Ehrmann S, Razazi K, Deybach JC, Brun-Buisson C, Thille AW. An atypical case of Guillain-Barré syndrome: acute intermittent porphyria. Intensive Care Med. 2012;38(5):913-4Ferreira FR, Silva CA, Costa SX. Acute intermittent porphyria, an important and rare differential diagnosis of acute abdomen: case report and literature review. Rev Bras Ter Intensiva. 2011;23(4):510-4Santos AB, Gozzani JL, Groke DF. Neuropathic pain in a patient with porphyria. Case report. 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