Hypophosphatasia in Adults: Clinical Cases and Literature Review

Родионова, С. С.; Захарова, Е. Ю.; Буклемишев, Ю. В.; Хакимов, У Р; Лапкина, С В

doi:10.14341/osteo2015225-28

Cited by 3 publications

(1 citation statement)

References 2 publications

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“…Некоторые симптомы гипофосфатазии, выявляемые у взрослых, могут указывать на перенесенный в детстве рахит. Основной лабораторный признак гипофосфатазии, позволяющий провести дифференциальную диагностику с другими метаболическими заболеваниями скелета,выраженное снижение ЩФ в крови [46].…”

Section: другие причины остеомаляцииunclassified

Osteomalacia in practice of endocrinologist: etiology, pathogenesis, differential diagnosis with osteoporosis

Golounina¹,

Рунова²,

Fadeyev³

2020

Osteopor Bone Dis

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Osteoporosis is the most common cause of low bone mineral density (BMD) and low-traumatic fractures in adults. However, differential diagnosis should also consider other causes of decreased BMD, including osteomalacia, as treatment for these conditions vary significantly. Osteomalacia is a systemic disorder characterized by decrease in bone strength due to of excessive accumulation of non-mineralized osteoid and uncoupling between bone matrix formation and mineralization. Osteomalacia in adults mostly develops due to severe vitamin D deficiency of any etiology, less often along with kidney pathology, mesenchymal tumors secreting fibroblast growth factor 23 or hereditary metabolic bone diseases. Clinical symptoms of osteomalacia are nonspecific and mostly manifest by generalized diffuse bone pain, muscle weakness, skeletal deformities and often go unnoticed at initial stage of the disease. Histomorphometric examination is the most accurate method of the diagnosis, which allows assessment of bone formation rate and calcification. The utmost priority of the treatment of osteomalacia of any etiology is the elimination of vitamin D deficiency, hypocalcemia, hypophosphatemia and prevention of bone deformities progression and muscle hypotension.

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Section: другие причины остеомаляцииunclassified

Osteomalacia in practice of endocrinologist: etiology, pathogenesis, differential diagnosis with osteoporosis

Golounina¹,

Рунова²,

Fadeyev³

2020

Osteopor Bone Dis

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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 phenotypes and variants of mutations of the <i>ALPL</i> gene in children with hypophosphatasia, enzyme replacement therapy with Asfotase alfa: literature and clinical case data

Savenkova,

Leviashvili,

Barsukova

2023

Nefrologiâ (St.-Peterbg.)

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The article presents current literature data on clinical phenotypes and variants of ALPL gene mutations, the effectiveness of enzyme replacement therapy with asfotase alfa in children with hypophosphatasia (HPP). HPP is inherited disease ORPHA (436). The OMIM catalog contains forms of HPP: perinatal (lethal), infantile; hypophosphatasia of childhood; hypophosphatasia in adults; odontohypophosphatasia. M.E. Nunes (2023) considers 7 forms of HPP, taking into account the age and severity of the clinical manifestation. As a result of worldwide molecular genetic studies, fundamental information has been obtained on the phenotypic features of the manifestation and severity of HFF in pediatric patients, depending on the variants of the ALPL gene mutations. Molecular genetics diagnosis and enzyme replacement therapy with Asfotase alfa in our country are guaranteed for children with HPP at the expense of the «Krug Dobra Foundation», the founder of the foundation is the Ministry of Health of the Russian Federation. The article presents a clinical observation of a proband with hypophosphatasia receiving Asfotase alfa.

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Hypophosphatasia in Adults: Clinical Cases and Literature Review

Cited by 3 publications

References 2 publications

Osteomalacia in practice of endocrinologist: etiology, pathogenesis, differential diagnosis with osteoporosis

Osteomalacia in practice of endocrinologist: etiology, pathogenesis, differential diagnosis with osteoporosis

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

Clinical phenotypes and variants of mutations of the <i>ALPL</i> gene in children with hypophosphatasia, enzyme replacement therapy with Asfotase alfa: literature and clinical case data

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