nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное общество10.28996/2618-9801-2021-2-225-235nid-33Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИCASE REPORTSПервичная гипероксалурия 1 типа у детей: первый успешный опыт комбинированной трансплантации печени и почки. Обзор литературы и клинические наблюденияPrimary hyperoxaluria type 1 in children: the first successful experience of combined liver and kidney transplantation. A review and clinical casesБайкоС. В.BaikoS. V.baiko@yandex.ruКоротковС. В.KorotkovS. V.noemail@neicon.ruШтуричИ. П.ShturichI. P.noemail@neicon.ruДориченкоЕ. В.DorichenkoE. V.noemail@neicon.ruЩербаА. Е.ShcherbaA. E.noemail@neicon.ruКалачикО. В.KalachikA. V.noemail@neicon.ruРуммоО. О.RummoO. O.noemail@neicon.ruБелорусский государственный медицинский университетРоссияBelarusian State Medical UniversityRussian FederationМинский научно-практический центр хирургии, трансплантологии и гематологииРоссияMinsk Scientific-Practical Center of Surgery, Transplantation and HematologyRussian Federation2-я городская детская клиническая больницаРоссия2nd City Children’s HospitalRussian Federation202121062024232225235Copyright © Байко С.В., Коротков С.В., Штурич И.П., Дориченко Е.В., Щерба А.Е., Калачик О.В., Руммо О.О., 20242024Байко С.В., Коротков С.В., Штурич И.П., Дориченко Е.В., Щерба А.Е., Калачик О.В., Руммо О.О.Baiko S.V., Korotkov S.V., Shturich I.P., Dorichenko E.V., Shcherba A.E., Kalachik A.V., Rummo O.O.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/33

Первичная гипероксалурия 1-го типа (ПГ1) - это редкое аутосомно-рецессивное заболевание, обусловленное дефектами в гене AGXT, который кодирует печеночный пероксисомальный фермент аланин-глиоксилат аминотрансферазу (AGT), что приводит к повышенному образованию оксалатов. Для ПГ1 характерно развитие нефрокальциноза/уролитиаза с быстрым прогрессированием до терминальной стадии хронической болезни почек (ХБП С5) еще в детском возрасте. Одним из методов, позволяющим сохранить жизнь пациенту с ПГ1 и ХБП С5 и существенно улучшить его качество жизни, является комбинированная трансплантация печени и почки (КТПП). КТПП - это редко выполняемое сложное хирургическое вмешательство у детей (не более 30 операций в мире в год), которое включает в себя одновременную пересадку части или всей печени и почки от одного донора одному реципиенту. В данной статье представлены клинические случаи 2-х детей из одной семьи с идентичной гомозиготной мутацией гена AGXT (NM_000030.2:c.1-?_358+?del в экзонах 1_2 гена AGXT, кодирующего белок NP_000021.1: EX1_EX2del), но разными фенотипическими проявлениями заболевания: у старшего ребенка - тяжелый нефрокальциноз/уролитиаз с выходом на гемодиализ в возрасте 9,5 лет, у младшего - рецидивирующий уролитиаз (с 5 лет) со стабильной функцией почек. Первому ребенку через 2 года нахождения на программном гемодиализе выполнена КТПП от умершего донора. В раннем послеоперационном периоде имела место отсроченная функция почечного трансплантата, что потребовало проведения гемодиализа. Несмотря на несколько хирургических осложнений (на 11 сутки - внутрибрюшное кровотечение, на 12 сутки - стеноз на 80-90% в зоне анастомоза печеночной артерии), которые успешно были устранены, функция пересаженной почки восстановилась на 14 сутки, а на 30-е сутки ребенок выписан из стационара. Последние 3,5 года после операции у ребенка удовлетворительная функция пересаженных органов. Данный клинический случай подтверждает возможность успешной одновременной трансплантации печени и почки ребенку с ХБП С5. У второго ребенка с момента установления диагноза ПГ1 в возрасте 7,7 лет и начала консервативной терапии отмечается регулярное отхождение конкрементов с эпизодами почечной колики и обструкции мочевых путей. Несмотря на это на протяжении последних 5 лет сохраняется стабильная функция почек.

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder caused by defects in the AGXT gene that encodes the hepatic peroxisomal enzyme alanine glyoxylate aminotransferase (AGT), which leads to increased production of oxalates. PH1 is characterized by the development of nephrocalcinosis/urolithiasis with rapid progression to end-stage renal disease (ESRD) in childhood. Combined liver-kidney transplantation (CLKT) is one of the methods to save the life of a patient with PH1 and ESRD, and/or significantly improve his quality of life. CLKT is a rarely performed complex surgical intervention in children (no more than 30 operations in the world per year). It includes the simultaneous transplantation of a part or whole of the liver and kidney from one donor to one recipient. The paper presents clinical cases of 2 children from the same family with an identical homozygous mutation in the AGXT gene (NM_000030.2: c.1 -? _ 358+? Del in exons 1_2 encoding the NP_000021.1: EX1_EX2del protein). The phenotypic manifestations of the disease were different: in an older child - severe nephrocalcinosis/urolithiasis with access to hemodialysis at the age of 9.5 years, in a younger child - recurrent urolithiasis (from 5 years old) with stable kidney function. The first child, after being for 2 years on programmed hemodialysis, underwent CLKT from a deceased donor. In the early postoperative period, the child required hemodialysis due to a delayed renal graft function. Despite several surgical complications (on the 11th day - intraabdominal bleeding, on the 12th day - stenosis by 80-90% in hepatic artery anastomosis), which were successfully eliminated, the function of the transplanted kidney recovered on the 14th day, and on the 30th day the child was discharged from the hospital. For the last 3.5 years after the operation, the child has a satisfactory function of the transplanted organs. This clinical case confirms the possibility of a successful simultaneous liver and kidney transplantation in a child with end-stage renal disease. In the second child, since the diagnosis of PH1 at the age of 7.7 years and the beginning of conservative therapy, there is a regular discharge of calculi with episodes of renal colic and obstruction of the urinary tract. Despite this, stable kidney function has been maintained over the past 5 years.

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