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Erschienen in: Journal of Clinical Immunology 2/2014

01.02.2014 | Brief Communication

Bone Density and Fractures in Autosomal Dominant Hyper IgE Syndrome

verfasst von: Kathryn J. Sowerwine, Pamela A. Shaw, Wenjuan Gu, Jennifer C. Ling, Michael T. Collins, Dirk N. Darnell, Victoria L. Anderson, Joie Davis, Amy Hsu, Pamela Welch, Jennifer M. Puck, Steven M. Holland, Alexandra F. Freeman

Erschienen in: Journal of Clinical Immunology | Ausgabe 2/2014

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Abstract

Purpose

Autosomal Dominant Hyper IgE Recurrent Infection Syndrome (AD-HIES) is caused by mutations in STAT3 and characterized by eczema, recurrent bacterial infections, and skeletal and connective tissue abnormalities. To further understand the minimal trauma fractures of AD-HIES, we examined bone mineral density (BMD) and laboratory markers of bone turnover.

Methods

Patients with AD-HIES enrolled in a prospective natural history study were examined with dual x-ray absorptiometry (DEXA) scans and laboratory studies of bone metabolism. The number of fractures was recorded as well as clinical features of AD-HIES including scoliosis and retained primary teeth. Patients on medications with skeletal effects, including bisphosphonates, were examined separately.

Results

Twenty-three AD-HIES children (6–18 years) and 33 AD-HIES adults (21–50 years) not receiving bone-active drugs were studied. Fourteen of the 23 children (61 %) had histories of minimal trauma fractures, as did 26 of the 33 adults (79 %). Osteopenia or osteoporosis was found in 79 % of children and adults. Only radial BMD correlated with the qualitative occurrence of fractures but it did not correlate with the numbers of fractures. Markers of bone metabolism did not correlate with minimal trauma fractures or BMD. Patients on bone-active medications had improved BMD, but still sustained fractures.

Conclusions

Minimal trauma fractures and decreased BMD are common in AD-HIES. Low radial BMD is associated with fractures, but hip and spine BMD are not. Treatment with bisphosphonates increased BMD but its role in fracture prevention remains undefined.
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Metadaten
Titel
Bone Density and Fractures in Autosomal Dominant Hyper IgE Syndrome
verfasst von
Kathryn J. Sowerwine
Pamela A. Shaw
Wenjuan Gu
Jennifer C. Ling
Michael T. Collins
Dirk N. Darnell
Victoria L. Anderson
Joie Davis
Amy Hsu
Pamela Welch
Jennifer M. Puck
Steven M. Holland
Alexandra F. Freeman
Publikationsdatum
01.02.2014
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 2/2014
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-013-9982-2

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