Hypophosphatasia: From Diagnosis to Treatment

Simon, Shelley; Resch, Heinrich; Klaushofer, Klaus; Roschger, Paul; Zwerina, Jochen; Kocijan, Roland

doi:10.1007/s11926-018-0778-5

Cited by 36 publications

(32 citation statements)

References 75 publications

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“…Indeed in up to 30% of cases, the diagnosis of PHPT may be missed if the biochemical work-up is performed in the presence of low vitamin D levels (2). Besides hypovitaminosis D, a concomitant mineralisation disorder, impacting on bone density and quality could influence the effect of an endocrine disease on bone fragility (140,141). Therefore, in all endocrinerelated forms of bone fragility, the vitamin D status has to be assessed and the presence of a mineralisation disorder has to be excluded.…”

Section: Discussionmentioning

confidence: 99%

DIAGNOSIS OF ENDOCRINE DISEASE: Evaluation of bone fragility in endocrine disorders

Eller-Vainicher

Falchetti

Gennari

et al. 2019

European Journal of Endocrinology

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An underlying disease affecting bone health is present in up to 40 and 60% of osteoporotic postmenopausal women and men respectively. Among the disorders leading to a secondary form of osteoporosis, the endocrine diseases are highly represented. A frequent finding in patients affected with an endocrine-related forms of bone disease is that the skeletal fragility is partially independent of the bone density, since the fracture risk in these patients is related more to a reduction of bone quality than to a decrease of bone mass. As a consequence, bone mineral density evaluation by dual-X-ray absorptiometry may be inadequate for establishing the risk of fracture in the setting of the endocrine-related forms of osteoporosis. In the recent years, several attempts to non-invasively estimating bone quality have been done. Nowadays, some new tools are available in the clinical practice for optimising the fracture risk estimation in patients with endocrine disorders. The aim of this review is to summarise the evidence regarding the role of the different imaging tools for evaluating bone density and bone quality in the most frequent forms of endocrine-related osteoporosis, such as obesity, diabetes, acromegaly, thyrotoxicosis, primary hyperparathyroidism, hypercortisolism and hypogonadism. For each of these disorders, data regarding both the current available tools and the future possible new techniques for assessing bone fragility in patients with endocrine diseases are reported.

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Section: Discussionmentioning

confidence: 99%

DIAGNOSIS OF ENDOCRINE DISEASE: Evaluation of bone fragility in endocrine disorders

Eller-Vainicher

Falchetti

Gennari

et al. 2019

European Journal of Endocrinology

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“…Hypophosphatasia is a rare (∼1 in 100,000) inherited disorder of bone development caused by deficiency of serum alkaline phosphatase, leading to defective bone mineralization. The clinical presentation of hypophosphatasia is variable with multiple subtypes based on timing of onset of symptoms and presentation: (1) perinatal-onset: infant is born with symptoms, (2) infantile-onset: before six months of age, (3) childhood-onset: between six months of age to less than 18 years of age, (4) adult-onset: over 18 years of age, and (5) odonto-hypophosphatasia: presents at any age with only dental manifestations [ 1 ]. Recently, a mild prenatal form has been described as a sixth subtype [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings

Zarei

Bernat

Sato

et al. 2020

Case Reports in Pediatrics

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Infants presenting with multiple fractures without a plausible accident history need to be evaluated for child abuse or underlying predisposing conditions such as osteogenesis imperfecta and hypophosphatasia. We present a case of infantile hypophosphatasia with multiple unexplained fractures but otherwise normal radiographs in the setting of biochemical and genetic evidence of hypophosphatasia. Standard screening tests for hypophosphatasia include serum alkaline phosphatase level and genetic testing. Despite the presented case’s positive biochemical and genetic testing, the case did not have any other radiologic finding suggesting infantile hypophosphatasia, such as severe bone mineralization deficits and rickets. While patients with hypophosphatasia can have increased bone fragility, this has been reported in the context of radiologic abnormalities of the skeleton. Thus, this case is potentially the first reported infantile hypophosphatasia case presenting with no findings of rickets on radiographs, raising concern that the fractures and especially the radius head dislocation might be due to physical abuse.

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“…One of the most common manifestations of the loss of TNAP activity is hypophosphatasia [ 33 , 34 ], a systemic bone disease characterized by hypomineralization of hard tissues like teeth and structural bones. Severe forms of hypophophatasia can result in respiratory failure and death.…”

Section: Hypophosphatasiamentioning

confidence: 99%

Tissue Non-Specific Alkaline Phosphatase and Vascular Calcification: A Potential Therapeutic Target

Azpiazu¹,

Gonzálo²

2019

CCR

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Vascular calcification is a pathologic phenomenon consisting of calcium phosphate crystal deposition in the vascular walls. Vascular calcification has been found to be a risk factor for cardiovascular diseases, due to its correlation with cardiovascular events and mortality, and it has been associated with aging, diabetes, and chronic kidney disease. Studies of vascular calcification have focused on phosphate homeostasis, primarily on the important role of hyperphosphatemia. Moreover, vascular calcification has been associated with loss of plasma pyrophosphate, one of the main inhibitors of calcification, thus indicating the importance of the phosphate/pyrophosphate ratio. Extracellular pyrophosphate can be synthesized from extracellular ATP by ecto-nucleotide pyrophosphatase/ phosphodiesterase, whereas pyrophosphate is hydrolyzed to phosphate by tissuenonspecific alkaline phosphatase, contributing to the formation of hydroxyapatite crystals. Over the last decade, vascular calcification has been the subject of numerous reviews and studies, which have revealed new agents and activities that may aid in explaining the complex physiology of this condition. This review summarizes current knowledge about alkaline phosphatase and its role in the process of vascular calcification as a key regulator of the phosphate/pyrophosphate ratio.

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Hypophosphatasia: From Diagnosis to Treatment

Cited by 36 publications

References 75 publications

DIAGNOSIS OF ENDOCRINE DISEASE: Evaluation of bone fragility in endocrine disorders

DIAGNOSIS OF ENDOCRINE DISEASE: Evaluation of bone fragility in endocrine disorders

Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings

Tissue Non-Specific Alkaline Phosphatase and Vascular Calcification: A Potential Therapeutic Target

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