porozendoОстеопороз и остеопатииOsteoporosis and Bone Diseases2072-26802311-0716Endocrinology Research Centre10.14341/osteo12434porozendo-12434Research ArticleКлинический случай (или краткое сообщение)Case reportОстеопетроз: течение заболевания у пациента, перенесшего трансплантацию гемопоэтических стволовых клеток в возрасте 27 летOsteopetrosis: the follow-up of the disease in a patient who underwent hematopoietic stem cell transplantation at the age of 27 yearshttps://orcid.org/0000-0002-2137-9879ЖиляевВиктор МаксимовичZhilyaevVictor M.

клинический ординатор

MD

wolfzhvm@gmail.comhttps://orcid.org/0000-0003-0028-4659АраповаСветлана ДмитриевнаArapovaSvetlana D.

к.м.н.

MD, PhD

arapova-s@inbox.ruhttps://orcid.org/0000-0002-9783-3599МамедоваЕлизавета ОктаевнаMamedovaElizaveta O.

к.м.н.

MD, PhD

lilybet@mail.ruhttps://orcid.org/0000-0001-7965-9454ТарбаеваНаталья ВикторовнаTarbaevaNatalya V.

к.м.н.

MD, PhD

ntarbaeva@inbox.ruhttps://orcid.org/0000-0002-6674-6441БелаяЖанна ЕвгеньевнаBelayaZhanna E.

д.м.н.

MD, PhD

jannabelaya@gmail.comФГБУ «Национальный медицинский исследовательский центр эндокринологии» Минздрава РоссииEndocrinology Research CentreФГБУ “Национальный медицинский исследовательский центр эндокринологии” Минздрава РоссииРоссияEndocrinology Research CentreRussian Federation2020250220212311419Copyright © Жиляев В.М., Арапова С.Д., Мамедова Е.О., Тарбаева Н.В., Белая Ж.Е., 20212021Жиляев В.М., Арапова С.Д., Мамедова Е.О., Тарбаева Н.В., Белая Ж.Е.Zhilyaev V.M., Arapova S.D., Mamedova E.O., Tarbaeva N.V., Belaya Z.E.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.osteo-endojournals.ru/jour/article/view/12434

Остеопетроз – редкое наследственное заболевание, развивающееся в результате генетических мутаций, приводящих к нарушению развития и функции остеокластов. Существует несколько форм остеопетроза, различающихся по типу наследования и тяжести симптомов (аутосомно-рецессивная, аутосомно-доминантная и промежуточная). Основными клиническими проявлениями заболевания являются частые патологические переломы, анемия, тромбоцитопения, инфекционные осложнения, сдавление черепно-мозговых нервов и нарушение их функций. При своевременной диагностике и проведении успешной трансплантации гемопоэтических стволовых клеток (ТГСК) прогноз благоприятный. В подавляющем большинстве случаев трансплантация выполняется в первые 10 месяцев жизни. В литературе описано всего 12 пациентов с остеопетрозом, кому была проведена ТГСК в возрасте старше 5 лет. В статье представлен клинический случай остеопетроза вследствие мутации в гене СА2 (Chr8:86389420C>G, p.Y193X)) у пациента 30 лет, перенесшего ТГКС в 27-летнем возрасте.

Osteopetrosis is a rare hereditary disease that develops as a result of genetic mutations leading to impaired development and function of osteoclasts. There are several forms of osteopetrosis that differ in the type of inheritance (autosomal recessive, autosomal dominant and intermediate) and the severity of symptoms. The main clinical manifestations of the disease are frequent pathological fractures, anemia, thrombocytopenia, infectious complications, compression of the cranial nerves and impaired function. With timely diagnosis and successful hematopoietic stem cell transplantation (HSCT), the prognosis is favorable. In the vast majority of cases, transplantation is performed in the first 10 months of life. The literature describes only 12 patients with osteopetrosis who underwent HSCT over the age of 5 years. The article presents a clinical case of osteopetrosis due to a mutation in the CA2 gene (Chr8: 86389420C> G, p.Y193X) in a 30-year-old patient who underwent THSC at the age of 27.

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