porozendoОстеопороз и остеопатииOsteoporosis and Bone Diseases2072-26802311-0716Endocrinology Research Centre10.14341/osteo13180porozendo-13180Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCASE REPORTSДиагностика гипофосфатазии во взрослом возрасте: клинические случаи и обзор литературыHypophosphatasia diagnosis in adults: clinical case and literature reviewhttps://orcid.org/0000-0002-8860-8509МагеррамоваС. Т.MagerramovaS. T.

Магеррамова Сара Тофиковна - клинический ординатор.

117292, Москва, ул. Дмитрия Ульянова, д. 11

Sara T. Magerramova - medical resident.

11, Dm. Uliyanova str., Moscow, 117292

sara.magerramova@mail.ruhttps://orcid.org/0000-0003-3452-4868ТютюгинаЮ. В.TyutyuginaYu. V.

Тютюгина Юлия Валерьевна - клинический ординатор.

117292, Москва, ул. Дмитрия Ульянова, д. 11

Yuliya V. Tyutyugina - medical resident.

11, Dm. Uliyanova str., Moscow, 117292

seriesman06@gmail.comhttps://orcid.org/0000-0002-6674-6441БелаяЖ. Е.BelayaZh. E.

Белая Жанна Евгеньевна - д.м.н., заведующая отделением остеопороза и остеопатий.

Москва

AuthorID 583971

Zhanna E. Belaya - MD, PhD, head of department.

Moscow

AuthorID 583971

jannabelaya@gmail.comФГБУ «Национальный медицинский центр эндокринологии» Минздрава РоссииРоссияEndocrinology Research CentreRussian Federation2024161020242741116Copyright © Магеррамова С.Т., Тютюгина Ю.В., Белая Ж.Е., 20252025Магеррамова С.Т., Тютюгина Ю.В., Белая Ж.Е.Magerramova S.T., Tyutyugina Y.V., Belaya Z.E.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.osteo-endojournals.ru/jour/article/view/13180

Гипофосфатазия (HPP) — наследственное метаболическое заболевание, характеризующееся низкой активностью ткань-неспецифической щелочной фосфатазы (TNAP) вследствие мутаций в гене ALPL [1]. Низкая активность TNAP приводит к системному накоплению его субстратов, а именно неорганического пирофосфата (PPi), сильного ингибитора минерализации, и пиридоксаль-5’-фосфата (PLP), кофактора нескольких ферментов, которые в значительной степени объясняют скелетно-мышечные и системные особенности заболевания. Гипофосфатазия характеризуется широким спектром проявлений и различной степенью тяжести: от бессимптомного течения у носителей мутации ALPL до внутриутробной смерти при перинатальной форме. В данной статье будет рассмотрена манифестация заболевания во взрослом возрасте, которая требует дифференциальной диагностики с постменопаузальным остеопорозом.

Hypophosphatasia (HPP) is an inherited metabolic disease characterized by low activity of tissue non-specific alkaline phosphatase (TNAP) due to mutations in the ALPL gene [1]. The low activity of TNAP leads to the systematic accumulation of its substrates, namely inorganic pyrophosphate (PPi), a strong inhibitor of mineralization, and pyridoxal-5’-phosphate (PLP), a cofactor of several enzymes, which largely explain the musculoskeletal and systemic features of the disease. Hypophosphatasia is characterized by a wide range of manifestations and varying degrees of severity: from asymptomatic course in carriers of the ALPL mutation to intrauterine death in perinatal form. This article will discuss the manifestation of the disease in adulthood, which requires differential diagnosis with postmenopausal osteoporosis.

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