دورية أكاديمية
أعرض في EDS

Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.

التفاصيل البيبلوغرافية
العنوان: Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.
المؤلفون: Nahm NJ; Department of Orthopedics, Gillette Children's Specialty Healthcare, Saint Paul, MN, USA., Mackenzie WGS; Nemours Children's Hospital, DE, Wilmington, DE, USA., Mackenzie WG; Nemours Children's Hospital, DE, Wilmington, DE, USA., Gough E; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Hashmi SS; Department of Pediatrics, McGovern Medical School UTHealth, Houston, TX, USA., Hecht JT; Department of Pediatrics, McGovern Medical School UTHealth, Houston, TX, USA., Legare JM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Little ME; Nemours Children's Hospital, DE, Wilmington, DE, USA., Modaff P; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Pauli RM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Rodriguez-Buritica DF; Department of Pediatrics, McGovern Medical School UTHealth, Houston, TX, USA., Serna ME; Department of Pediatrics, McGovern Medical School UTHealth, Houston, TX, USA., Smid CJ; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Hoover-Fong J; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Bober MB; Nemours Children's Hospital, DE, Wilmington, DE, USA. mbober@nemours.org.
المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jun 06; Vol. 18 (1), pp. 139. Date of Electronic Publication: 2023 Jun 06.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [London] : BioMed Central, 2006-
مواضيع طبية MeSH: Orthopedic Procedures* , Achondroplasia*/surgery , Achondroplasia*/complications , Hydrocephalus*/complications , Hydrocephalus*/surgery, Humans ; Adolescent ; Child ; Young Adult ; Adult ; Infant ; Child, Preschool ; Decompression, Surgical/methods ; Retrospective Studies
مستخلص: Background: The purpose of this study was to describe the frequency and risk factors for orthopedic surgery in patients with achondroplasia. CLARITY (The Achondroplasia Natural History Study) includes clinical data from achondroplasia patients receiving treatment at four skeletal dysplasia centers in the United States from 1957 to 2018. Data were entered and stored in a Research Electronic Data Capture (REDCap) database.
Results: Information from one thousand three hundred and seventy-four patients with achondroplasia were included in this study. Four hundred and eight (29.7%) patients had at least one orthopedic surgery during their lifetime and 299 (21.8%) patients underwent multiple procedures. 12.7% (n = 175) of patients underwent spine surgery at a mean age at first surgery of 22.4 ± 15.3 years old. The median age was 16.7 years old (0.1-67.4). 21.2% (n = 291) of patients underwent lower extremity surgery at a mean age at first surgery of 9.9 ± 8.3 years old with a median age of 8.2 years (0.2-57.8). The most common spinal procedure was decompression (152 patients underwent 271 laminectomy procedures), while the most common lower extremity procedure was osteotomy (200 patients underwent 434 procedures). Fifty-eight (4.2%) patients had both a spine and lower extremity surgery. Specific risk factors increasing the likelihood of orthopedic surgery included: patients with hydrocephalus requiring shunt placement having higher odds of undergoing spine surgery (OR 1.97, 95% CI 1.14-3.26); patients having a cervicomedullary decompression also had higher odds of undergoing spine surgery (OR 1.85, 95% CI 1.30-2.63); and having lower extremity surgery increased the odds of spine surgery (OR 2.05, 95% CI 1.45-2.90).
Conclusions: Orthopedic surgery was a common occurrence in achondroplasia with 29.7% of patients undergoing at least one orthopedic procedure. Spine surgery (12.7%) was less common and occurred at a later age than lower extremity surgery (21.2%). Cervicomedullary decompression and hydrocephalus with shunt placement were associated with an increased risk for spine surgery. The results from CLARITY, the largest natural history study of achondroplasia, should aid clinicians in counseling patients and families about orthopedic surgery.
(© 2023. The Author(s).)
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فهرسة مساهمة: Keywords: Achondroplasia; Genu varum; Spinal stenosis; Thoracolumbar kyphosis
تواريخ الأحداث: Date Created: 20230606 Date Completed: 20230608 Latest Revision: 20230610
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC10246371
DOI: 10.1186/s13023-023-02738-x
PMID: 37280669
قاعدة البيانات: MEDLINE
الوصف
تدمد:1750-1172
DOI:10.1186/s13023-023-02738-x