Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility

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http://hdl.handle.net/10138/241195

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Makitie , R E , Kampe , A J , Taylan , F & Makitie , O 2017 , ' Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility ' , Current Osteoporosis Reports (Online) , vol. 15 , no. 4 , pp. 303-310 . https://doi.org/10.1007/s11914-017-0388-6

Titel: Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility
Författare: Makitie, Riikka E.; Kampe, Anders J.; Taylan, Fulya; Makitie, Outi
Upphovmannens organisation: HUS Internal Medicine and Rehabilitation
HUS Children and Adolescents
Clinicum
Children's Hospital
Lastentautien yksikkö
Datum: 2017-08
Språk: eng
Sidantal: 8
Tillhör serie: Current Osteoporosis Reports (Online)
ISSN: 1544-2241
DOI: https://doi.org/10.1007/s11914-017-0388-6
Permanenta länken (URI): http://hdl.handle.net/10138/241195
Abstrakt: 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.
Subject: Primary osteoporosis
WNT1
PLS3
XYLT2
Osteogenesis imperfect
RECESSIVE OSTEOGENESIS IMPERFECTA
VAN-BUCHEM-DISEASE
WNT1 MUTATIONS
PEDIATRIC OSTEOPOROSIS
SOST GENE
PLASTIN 3
FAMILIES
DENSITY
PHENOTYPE
CHILDREN
3121 General medicine, internal medicine and other clinical medicine
Referentgranskad: Ja
Licens: unspecified
Användningsbegränsning: openAccess
Parallelpublicerad version: publishedVersion


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