porozendoОстеопороз и остеопатииOsteoporosis and Bone Diseases2072-26802311-0716Endocrinology Research Centre10.14341/osteo2017252-57porozendo-9354Research ArticleКлинический случай (или краткое сообщение)Case reportПахидермопериостоз: особенности диагностики на примере клинического случаяPachydermoperiostosis: a case reporthttps://orcid.org/0000-0003-0517-8687ФурсенкоВалентина АлексеевнаFursenkoValentina A.

ординатор

dr.v1@bk.ruhttps://orcid.org/0000-0003-1413-1549ГребенниковаТатьяна АлексеевнаGrebennikovaTatiana A.

научный сотрудник отделения нейроэндокринологии и остеопатий

grebennikova@hotmail.comhttps://orcid.org/0000-0001-9762-3383НикитинАлексей ГеоргиевичNikitinAlexey G.

к.б.н.

PhD

avialn@gmail.comhttps://orcid.org/0000-0002-6674-6441БелаяЖанна ЕвгеньевнаBelayaZhanna E.

д.м.н., профессор кафедры «Института высшего и дополнительного профессионального образования»

MD, PhD, Professor

jannabelaya@gmail.com<p>ФГБУ &laquo;Национальный медицинский исследовательский центр эндокринологии&raquo; Минздрава России</p>Россия<p>Endocrinology Research Centre</p>Russian Federation<p>ФГБУ &laquo;Федеральный научно-клинический центр специализированных видов медицинской помощи и медицинских технологий ФМБА России&raquo;</p>Россия<p>Federal Research Clinical Centre for Specialized Types of Health care and Medical technologies of FMBA</p>Russian Federation2017151220172025257Copyright &#x00A9; Фурсенко В.А., Гребенникова Т.А., Никитин А.Г., Белая Ж.Е., 20172017Фурсенко В.А., Гребенникова Т.А., Никитин А.Г., Белая Ж.Е.Fursenko V.A., Grebennikova T.A., Nikitin A.G., Belaya Z.E.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.osteo-endojournals.ru/jour/article/view/9354

Пахидермопериостоз (или первичная гипертрофическая остеоартропатия) является редким генетическим заболеванием, которое обычно начинается в детском или подростковом возрасте, характеризуется определенными клиническими признаками (пахидермией, периостозом, симптомом «барабанных палочек») и постепенно прогрессирует в течение многих лет до стабилизации болезни. В настоящее время известно 2 гена, мутации в которых ассоциируются с развитием пахидермопериостоза, – HPGD и SLCO2A1. Функции данных генов до конца не изучены, однако известно их влияние на метаболизм простагландина Е2.

Мы приводим описание 19-летнего пациента с пахидермопериостозом, у которого в ходе молекулярно-генетического анализа были выявлены две мутации в гене SLCO2A1: p.Gly183Ar (chr3:133673888, NM_005630.2:c.547G>A) и p.Cys444Gly (chr3:133664070, NM_005630.2:c.1330T>G), при этом мутация p.Cys444Gly идентифицирована впервые. Данная работа расширяет знания о спектре генетических мутаций, ассоциированных с пахидермопериостозом, что способствует более быстрой генетической диагностике и интерпретации генетической информации при пренатальной диагностике и генетическом консультировании.

Pachydermoperiostosis (PHO) or primary hypertrophic osteoarthropathy is a rare genetic disease that typically begins during childhood or adolescence. It is characterized by digital clubbing, pachydermia and periosteal reaction and progresses gradually over the years prior to disease stabilization. Two genes are reported to be associated with PHO – HPGD and SLCO2A1. These genes are involved in prostaglandin E2 metabolism.

We present a description of a 19-year-old patient with PHO. We found two mutations in the SLCO2A1 gene: p.Gly183Ar (chr3:133673888, NM_005630.2:c.547G>A) and p.Cys444Gly (chr3:133664070, NM_005630.2:c.1330T>G) through molecular genetic analysis. The mutation (p.Cys444Gly) has never been recorded in previous studies.

This work expands our knowledge of the mutation spectrum of PHO, which will facilitate faster genetic diagnosis and interpretation of genetic information in prenatal diagnosis and genetic counseling.

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