porozendoОстеопороз и остеопатииOsteoporosis and Bone Diseases2072-26802311-0716Endocrinology Research Centre10.14341/osteo12693porozendo-12693Research ArticleКлинический случай (или краткое сообщение)Case reportПрименение деносумаба для лечения гиперкальциемии и гипероксалатной остеопатии у пациента с первичной гипероксалурией типа 1: описание клинического случая и обзор литературыClinical experience of using denosumab in the treatment of hypercalcemia and oxalate osteopathy for a young patient with primary hyperoxaluria type 1.https://orcid.org/0000-0001-7041-0732РожинскаяЛюдмила ЯковлевнаGolouninaOlga O.

д.м.н., профессор

 

 

Student, Medical faculty

lrozhinskaya@gmail.comhttps://orcid.org/0000-0003-2320-1051ГолоунинаОльга ОлеговнаRozhinskayaLiudmila Ya.

студент

ORCID: https://orcid.org

MD, PhD, Professor

olga.golounina@mail.ruhttps://orcid.org/0000-0003-1413-1549ГребенниковаТатьяна АлексеевнаGrebennikovaTatiana A.

к.м.н.

 

 

MD, PhD

grebennikova@hotmail.comhttps://orcid.org/0000-0001-8958-8223КовалевичЛилия ДмитриевнаKovalevichLiliya D.

 

 

liliyakovalevich@gmail.comhttps://orcid.org/0000-0001-7055-2407ГронскаяСофья АлександровнаGronskaiaSofya A.

аспирант

 

resident

sofyaants@gmail.comhttps://orcid.org/0000-0001-6377-9056БогдановВиктор ПавловичBogdanovVictor P.

 

 

siberman@yandex.ruhttps://orcid.org/0000-0002-6674-6441БелаяЖанна ЕвгеньевнаBelayaZhanna E.

д.м.н., профессор

 

MD, PhD, Professor

jannabelaya@gmail.comФГБУ «Национальный медицинский исследовательский центр эндокринологии» Минздрава РоссииРоссияФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава России (Сеченовский Университет)Россия2020250220212332432Copyright © Рожинская Л.Я., Голоунина О.О., Гребенникова Т.А., Ковалевич Л.Д., Гронская С.А., Богданов В.П., Белая Ж.Е., 20212021Рожинская Л.Я., Голоунина О.О., Гребенникова Т.А., Ковалевич Л.Д., Гронская С.А., Богданов В.П., Белая Ж.Е.Golounina O.O., Rozhinskaya L.Y., Grebennikova T.A., Kovalevich L.D., Gronskaia S.A., Bogdanov V.P., Belaya Z.E.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.osteo-endojournals.ru/jour/article/view/12693

Первичные гипероксалурии представляют собой группу редких генетических заболеваний, обусловленных дефицитом специфических печеночных ферментов обмена глиоксиловой кислоты, приводящих к гиперпродукции оксалатов с последующим их отложением в различных органах и тканях. Клинически заболевание проявляется рецидивирующим нефролитиазом и нефрокальцинозом, быстро прогрессирующей хронической болезнью почек (ХБП), впоследствии приводящей к терминальной стадии хронической почечной недостаточности, системному оксалозу, ПТГ-независимой гиперкальциемии, панцитопении, оксалатной остеопатии с остеосклерозом, патологическим переломам, эндокринопатиям. Независимо от типа первичной гипероксалурии, любая консервативная терапия является паллиативной и позволяет лишь замедлить прогрессирование заболевания, но не  предотвратить его полностью. В статье представлено первое описание клинического случая лечения молодого пациента с генетически подтвержденным врожденным нарушением обмена оксалатов, перенесшего трансплантации печени и почки через 10 лет от начала заболевания в период терминальной стадии ХБП, препаратом моноклонального человеческого антитела к лиганду рецептора активатора ядерного фактора каппа бета (RANKL) — деносумабом — с положительным клиническим эффектом. Знание особенностей клинических проявлений, своевременная диагностика и лечение первичной гипероксалурии имеют важное прогностическое значение для пациентов.

Primary hyperoxaluria are a group of rare genetic diseases caused by defective glyoxylate metabolism leading to excessive oxalate production and deposition into the tissues (oxalosis). Clinical manifestations include recurrent nephrolithiasis and nephrocalcinosis, rapidly progressive chronic kidney disease subsequently leading to end-stage renal disease, systemic oxalosis, PTH-independent hypercalcemia, pancytopenia, oxalate osteopathy with osteosclerosis, pathological fractures and endocrinopathy. Regardless of the type of primary hyperoxaluria any conservative therapy is palliative and can only slow the progression of the disease but not prevent it completely. We report the case of a young male patient with genetically confirmed primary hyperoxaluria type 1 complicated by severe oxalate osteopathy and hypercalcemia, who received a combined liver/ kidney transplant after 10 years from the disease. Treatment with human monoclonal antibody to the receptor activator of nuclear factor kappa B ligand (RANKL) — denosumab allowed achieving normalization of calcium-phosphorus metabolism, significantly reduce the activity of bone resorption and improve clinical performance. Knowledge of the features of clinical manifestations, timely diagnosis and treatment of primary hyperoxaluria are important prognostic value for patients.

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