Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children77110.24287/1726-1708-2023-22-3-185-191LITERATURE REVIEWОБЗОР ЛИТЕРАТУРЫShwachman–Diamond syndrome: a hematologist's viewСиндром Швахмана–Даймонда: взгляд гематологаhttps://orcid.org/0000-0002-9366-3449TesakovI. P.ТесаковИ. П.
Russian Federation

Ivan P. Tesakov - research scientist of the Laboratory of cell biology and translational medicine.

1 Samory Mashela St., Moscow 117997

Тесаков Иван Павлович - лаборант-исследователь лаборатории клеточной биологии и трансляционной медицины.

117997, Москва, ул. Саморы Машела, 1

ivan.tesakov@yandex.ruhttps://orcid.org/0000-0002-8208-2075DeordievaE. A.ДеордиеваЕ. А.
Russian Federation

Moscow

Москва

BrontveynT. G.БронтвейнТ. Г.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-4720-7319SveshnikovaA. N.СвешниковаА. Н.
Russian Federation

Moscow

Москва

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава РоссииLomonosov Moscow State UniversityФГБОУ ВО «Московский государственный университет им. М.В. Ломоносова»031020232231851910310202303102023Copyright ©; 2023, «D. Rogachev NMRCPHOI»Copyright ©; 2023, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2023«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/771

Shwachman–Diamond syndrome is a rare genetic disorder with an autosomal recessive inheritance pattern. Most often (in more than 90% of cases) this disease is caused by biallelic pathogenic variants in the highly conserved SBDS gene located on the long arm of chromosome 7. However, approximately 10% of patients with the clinical phenotype of Shwachman–Diamond syndrome lack mutations in SBDS but have pathogenic variants in other genes, such as DNAJC21 or EFL1. Shwachman–Diamond syndrome is a multisystemic disorder characterized by exocrine pancreatic insufficiency, protein-energy undernutrition, delayed physical development, cognitive disorders, anomalies of the skeletal system, and immunological disorders. In addition to the described symptoms, Shwachman–Diamond syndrome is characterized by the presence of bone marrow failure (most often neutropenia and anemia), as well as an increased risk of cytogenetic abnormalities and a predisposition to myelodysplastic syndromes and acute myeloid leukemia. In this review, the authors summarize the spectrum of hematological disorders observed in Shwachman–Diamond syndrome, as well as describe the molecular mechanisms underlying them.

Синдром Швахмана–Даймонда (СШД) – редкое генетическое заболевание, наследуемое по аутосомнорецессивному типу. Наиболее часто (более 90% случаев) развитие СШД связано с наличием биаллельных патогенных вариантов в высококонсервативном гене SBDS, локализованном на длинном плече 7-й хромосомы. Тем не менее примерно у 10% пациентов с клиническим фенотипом СШД отсутствуют мутации в SBDS, но обнаруживаются патогенные варианты в других генах, например DNAJC21 или EFL1. Заболевание носит мультисистемный характер и отличается экзокринной недостаточностью поджелудочной железы, белково-энергетической недостаточностью, задержкой физического развития, когнитивными расстройствами, аномалиями костной системы, иммунологическими нарушениями. Кроме описанных симптомов СШД характеризуется наличием явлений костномозговой недостаточности (наиболее часто – нейтропении и анемии), а также повышенным риском появления цитогенетических аномалий и предрасположенностью к развитию миелодиспластических синдромов и острого миелобластного лейкоза. В этой статье авторы поставили перед собой цель описать спектр гематологических нарушений, наблюдаемых при СШД, а также обобщить и актуализировать знания о молекулярных механизмах, лежащих в их основе.

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