Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia

Kalinchenko, Natalia; Golounina, Olga; Grebennikova, T. A.; Мельниченко, Г. А.; Tiulpakov, Anatoly; Belaya, Zhanna

doi:10.14341/osteo10136

Cited by 4 publications

(1 citation statement)

References 19 publications

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“…Второй клинический случай, представленный Российскими авторами, был посвящен лечению гипофосфатазии. Гипофосфатазия -это наследственное метаболическое рахитоподобное заболевание, характеризующимся низкой активностью щелочной фосфатазы (ALP) и плохой минерализацией кости, вызванной мутациями в гене АLPL, который кодирует неспецифический изофермент щелочной фосфатазы [23]. Асфотаза альфаэто заместительная человеческая рекомбинантная ферментная терапия, одобренная во многих странах, в том числе в России, для лечения пациентов с гипофосфатазией.…”

Section: работы российских исследователей представленные на Asbmr 2019unclassified

Review of certain articles of the American society of bone and mineral research (ASMBR) annual congress 2019

Belaya¹

2020

Osteopor Bone Dis

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The annual congress of the American Society of Bone and Mineral Research (ASBMR) presents the most significant results among the basic and clinical research in the field of osteoporosis and other metabolic bone diseases. Professor of Medicine John Bilezikian, M.D., Columbia University College of Physicians and Surgeons New York, New York and Lynda F. Bonewald Ph.D. Director, Indiana Center for Musculoskeletal Health, Indianapolis, Indiana, every year present the most outstanding abstracts before the ASBMR. However, not all of these researches are relevant for Russia, as some of them relates to the epidemiology and pharmacoeconomics of osteoporosis specifically in the US. This review presents only a very limited selection of congress abstracts, combined on topics that seem relevant today.

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Section: работы российских исследователей представленные на Asbmr 2019unclassified

Review of certain articles of the American society of bone and mineral research (ASMBR) annual congress 2019

Belaya¹

2020

Osteopor Bone Dis

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Resolution of the Advisory Council on the criteria for the appointment of pathogenetic therapy of hypophosphatasia in children

Editorial¹

2023

Pediatr. farmakol.

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Clinical phenotype, diagnostics, strategy of hypophosphatasia therapy due to <i>ALPL</i> gene mutations in pediatric and adult patients

Левиашвили

Савенкова

2021

Nefrologiâ (St.-Peterbg.)

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Hypophosphatasia (HPP) ORPHA 436 is a rare disease with an autosomal recessive/autosomal dominant mode of inheritance due to mutations in the ALPL gene mapped on chromosome 1p36.12, encoding a nonspecific tissue isoenzyme alkaline phosphate (TNSALP). Currently, there are more than 400 known mutations in the ALPL gene. HPF is characterized by variability of manifestations from a mild course with minor damage to bones and teeth to severe forms with damage to the nervous system, lungs, and kidneys. In different countries, data on the prevalence of HPP differ, the average prevalence of severe forms is ~ 3.3 cases per 1 million newborns. In Europe, the prevalence of severe forms is 1: 300000 and moderately severe 1: 63701. The prevalence of mild HPP is thought to be much higher. The expected prevalence of severe forms in the Russian Federation is 1: 100000. GPP is diagnosed in patients of any age (with manifestation in utero, in childhood, or in adulthood).HPP is an orphan disease, occurring in patients with damage to many organs and systems: bone (osteoporosis, rickets, fractures, growth retardation), lungs (hypoplasia of the lungs, respiratory failure), central nervous system (vitamin B-dependent convulsions), kidney (calciuria, nephrocalcinosis, chronic kidney disease). In the absence of timely enzyme replacement therapy for severe forms of HPP, characterized by a progressive course, the prognosis for life is unfavorable. The only effective treatment for patients is enzyme replacement therapy in combination with symptomatic therapy. The article presents the features of the phenotype and genotype, clinical forms of HPP (perinatal severe, lethal, perinatal benign, infant, pediatric, adult, and odontohypophosphatasia), methods of early diagnosis, the strategy of pathogenetic enzyme replacement therapy of severe and moderate forms in pediatric and adult patients. In the absence of a timely diagnosis, pathogenetic treatment of GFF, there is a high risk of progression with disability and death.

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Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia

Cited by 4 publications

References 19 publications

Review of certain articles of the American society of bone and mineral research (ASMBR) annual congress 2019

Review of certain articles of the American society of bone and mineral research (ASMBR) annual congress 2019

Resolution of the Advisory Council on the criteria for the appointment of pathogenetic therapy of hypophosphatasia in children

Clinical phenotype, diagnostics, strategy of hypophosphatasia therapy due to <i>ALPL</i> gene mutations in pediatric and adult patients

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