nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное обществоnid-443Research ArticleШКОЛА НЕФРОЛОГАEDUCATIONAL MATERIALSТромботическая тромбоцитопеническая пурпура, ассоциированная с врождённым дефицитом ADAMTS13 Обзор литературы и клиническое наблюдениеThrombotic thrombocytopenic purpura associated with congenital deficiency of adamts13 Review and case reportКаганМ. Ю.KaganM. Yu.mkaganorenburg@yahoo.comАфанасьеваЕ. И.Afanas’EvaE. I.noemail@neicon.ruФроленкоА. Л.FrolenkoA. L.noemail@neicon.ruРезникН. В.ReznikN. V.noemail@neicon.ruСавостьяновК. В.Savost’IanovK. V.noemail@neicon.ruЦыгинА. Н.TsyginA. N.noemail@neicon.ruГБУЗ «Областная детская клиническая больница»РоссияRegional children’s clinical hospitalRussian FederationНИИ Педиатрии ФГАУ «НЦЗД» Министерства Здравоохранения РФРоссияScientific Centre of Children’s HealthRussian Federation201619082024183309318Copyright © Каган М.Ю., Афанасьева Е.И., Фроленко А.Л., Резник Н.В., Савостьянов К.В., Цыгин А.Н., 20242024Каган М.Ю., Афанасьева Е.И., Фроленко А.Л., Резник Н.В., Савостьянов К.В., Цыгин А.Н.Kagan M.Y., Afanas’Eva E.I., Frolenko A.L., Reznik N.V., Savost’Ianov K.V., Tsygin A.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephro.ru/jour/article/view/443

Врожденная тромботическая тромбоцитопеническая пурпура (ТТП), известная как синдром Апшоу-Шульмана, является редким наследственным заболеванием, обусловленным дефицитом ADAMTS13. В отличие от приобретенной TTП, при которой имеются аутоантитела к ADAMTS13, у пациентов с синдромом Апшоу-Шульмана отмечается абсолютный врождённый дефицит этой протеазы. Врожденная ТТП обычно проявляется с первых месяцев жизни повторными эпизодами тромбоцитопении и микроангиопатической гемолитической анемии (МАГА). Эти эпизоды, как правило, провоцируются интеркуррентными заболеваниями или физиологическим стрессом. Инфузии свежезамороженной плазмы (СЗП) являются эффективным методом лечения данной болезни, купирующим острые эпизоды и при регулярном применении предотвращающим развитие дальнейших рецидивов. Мы представляем случай 7-летнего мальчика со врожденной ТТП, у которого отмечалось сочетание тромбоцитопении и анемии с первых месяцев жизни. Тем не менее, правильный диагноз был установлен только в возрасте 7 лет. При поступлении в нашу клинику у пациента отмечалась тромбоцитопения, МАГА, повышение уровня креатинина сыворотки и шизоциты в мазке периферической крови. Он получил инфузии СЗП в дозе 10 мл/кг на одно введение, что привело к купированию симптомов. К моменту подготовки данной статьи к печати ремиссия у пациента поддерживалась регулярными инфузиями СЗП в дозе 10 мг/кг каждые 2 недели.

Congenital thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman Syndrome is a rare inherited deficiency of ADAMTS13. Unlike more common acquired TTP which is characterized by an acquired inhibitor of ADAMTS13, patients with congenital TTP have an absolute deficiency of ADAMTS13 without an inhibitor. Congenital TTP generally presents in infancy with repeated episodes of acute hemolysis and evidence of microangiopathy, these episodes are usually triggered by illness or physiological stress. Congenital TTP can be effectively treated with plasma infusion either during acute episodes or on a prophylactic schedule to prevent episodes. We present a case of a 7 year old boy with congenital TTP. He suffered from thrombocytopenia and anemia since infancy, but the correct diagnosis was not made until the age of 7. At presentation to our center the patient was documented to have thrombocytopenia, elevated creatinine, and schistocytes. He was initially treated with plasma infusion at a rate of 10 ml/kg with resolution of his thrombocytopenia and hemolysis. At the time of writing this article he is maintained on a prophylactic schedule of biweekly plasma infusions at 10 mg/kg and is maintaining a normal platelet count with no evidence of hemolysis.

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The authors declare that there are no conflicts of interest present.