The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment

Abstract

In recent years, as knowledge regarding the etiopathogenetic mechanisms of bone involvement characterizing many diseases has increased and diagnostic techniques evaluating bone health have progressively improved, the problem of low bone mass/quality in children and adolescents has attracted more and more attention, and the body evidence that there are groups of children who may be at risk of osteoporosis has grown. This interest is linked to an increased understanding that a higher peak bone mass (PBM) may be one of the most important determinants affecting the age of onset of osteoporosis in adulthood. This review provides an updated picture of bone pathophysiology and characteristics in children and adolescents with paediatric osteoporosis, taking into account the major causes of primary osteoporosis (PO) and evaluating the major aspects of bone densitometry in these patients. Finally, some options for the treatment of PO will be briefly discussed.

Bone modeling, remodeling, and skeletal health in children and adolescents: mineral accrual, assessment and treatment

“…The causes of osteoporosis are included into 2 large groups, which identify primary and secondary osteoporosis. Primary osteoporosis is a rare disease that is mainly related to genetic defects leading to an intrinsic bone abnormality 10) . Osteogenesis imperfecta, through its various clinical phenotypes, is the most common genetic disease.…”

A Child with Weight Loss and Alacrimation: Triple A Syndrome

“…Allgrove's syndrome, also known as Triple A syndrome, is an autosomal recessive disorder. 1 Allgrove's syndrome was first diagnosed in 1978 in two brothers with adrenal hormone deficiency and achalasia. 2 Allgrove's syndrome manifests by three main cardinal symptoms.…”

Assessing Osteoporosis in the Young Adult

“…Although primary causes of osteoporosis, such as osteogenesis imperfecta, are considered rare, this group of conditions has considerable phenotypic and genotypic heterogeneity and may be underdiagnosed. 1 However, most young people with fragility fractures have a secondary cause as the underlying aetiology. This may include a range of chronic diseases and medications that can affect bone turnover, modelling or bone mineral homeostasis.…”