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Current Osteoporosis Reports
Published in: Current Osteoporosis Reports 4/2017

01-08-2017 | Pediatrics (L Ward and E Imel, Section Editors)

Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility

Authors: Riikka E. Mäkitie, Anders J. Kämpe, Fulya Taylan, Outi Mäkitie

Published in: Current Osteoporosis Reports | Issue 4/2017

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Abstract

Purpose of Review

This review summarizes our current knowledge on primary osteoporosis in children with focus on recent genetic findings.

Recent Findings

Advances in genetic research, particularly next-generation sequencing, have found several genetic loci that associate with monogenic forms of inherited osteoporosis, widening the scope of primary osteoporosis beyond classical osteogenesis imperfecta. New forms of primary osteoporosis, such as those related to WNT1, PLS3, and XYLT2, have identified defects outside the extracellular matrix components and collagen-related pathways, in intracellular cascades directly affecting bone cell function.

Summary

Primary osteoporosis can lead to severe skeletal morbidity, including abnormal longitudinal growth, compromised bone mass gain, and noticeable fracture tendency beginning at childhood. Early diagnosis and timely care are warranted to ensure the best achievable bone health. Future research will most likely broaden the spectrum of primary osteoporosis, hopefully provide more insight into the genetics governing bone health, and offer new targets for treatment.
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Metadata
Title
Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility
Authors
Riikka E. Mäkitie
Anders J. Kämpe
Fulya Taylan
Outi Mäkitie
Publication date
01-08-2017
Publisher
Springer US
Published in
Current Osteoporosis Reports / Issue 4/2017
Print ISSN: 1544-1873
Electronic ISSN: 1544-2241
DOI
https://doi.org/10.1007/s11914-017-0388-6

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