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Bone density and fractures in autosomal dominant hyper IgE syndrome.

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.

journal_name

J Clin Immunol

journal_title

Journal of clinical immunology

authors

Sowerwine KJ,Shaw PA,Gu W,Ling JC,Collins MT,Darnell DN,Anderson VL,Davis J,Hsu A,Welch P,Puck JM,Holland SM,Freeman AF

doi

10.1007/s10875-013-9982-2

subject

Has Abstract

pub_date

2014-02-01 00:00:00

pages

260-4

issue

2

eissn

0271-9142

issn

1573-2592

journal_volume

34

pub_type

杂志文章

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