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Hypophosphatasia diagnosis in adults: clinical case and literature review

https://doi.org/10.14341/osteo13180

Abstract

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.

About the Authors

S. T. Magerramova
Endocrinology Research Centre
Russian Federation

Sara T. Magerramova - medical resident.

11, Dm. Uliyanova str., Moscow, 117292
Competing Interests:

None



Yu. V. Tyutyugina
Endocrinology Research Centre
Russian Federation

Yuliya V. Tyutyugina - medical resident.

11, Dm. Uliyanova str., Moscow, 117292
Competing Interests:

None



Zh. E. Belaya
Endocrinology Research Centre
Russian Federation

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

Moscow

AuthorID 583971
Competing Interests:

None



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Supplementary files

1. Рисунок 1. Консолидированный перелом основания тела левой седалищной кости с деформацией подвздошно-седалищной борозды.
Subject
Type Исследовательские инструменты
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Indexing metadata ▾
2. Рисунок 2. МРТ грудного отдела позвоночника.
Subject
Type Исследовательские инструменты
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Indexing metadata ▾
3. Рисунок 3. МРТ поясничного отдела позвоночника.
Subject
Type Исследовательские инструменты
View (115KB)    
Indexing metadata ▾

Review

For citations:

Magerramova S.T., Tyutyugina Yu.V., Belaya Zh.E. Hypophosphatasia diagnosis in adults: clinical case and literature review. Osteoporosis and Bone Diseases. 2024;27(4):11-16. (In Russ.) https://doi.org/10.14341/osteo13180

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ISSN 2311-0716 (Online)

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