Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA
Patients with mucopolysaccharidoses IVA (MPS IVA) have a progressive accumulation of the specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS), leading to the degeneration of the cartilage matrix and its connective tissue perturbing the regular microarchitecture of...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-04-01
|
| Series: | Diagnostics |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2075-4418/10/5/264 |
| _version_ | 1797569373478584320 |
|---|---|
| author | Zhigang Wang Yunlan Xu Enze Jiang Jianmin Wang Shunji Tomatsu Kaiying Shen |
| author_facet | Zhigang Wang Yunlan Xu Enze Jiang Jianmin Wang Shunji Tomatsu Kaiying Shen |
| author_sort | Zhigang Wang |
| collection | DOAJ |
| description | Patients with mucopolysaccharidoses IVA (MPS IVA) have a progressive accumulation of the specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS), leading to the degeneration of the cartilage matrix and its connective tissue perturbing the regular microarchitecture of cartilage and successively distorting bone ossification and growth. Impaired cartilage quality and poor bone mineralization lead to serious hip disorders in MPS IVA patients. Although hip dysplasia is seen widely in musculoskeletal abnormality of this disorder, the pathophysiology of the hip bone and cartilage morphology in these patients remains unclear. Until now, no systemic study of the hip joints in MPS IVA has been reported by using the combined images of plain film radiographs (PFR) and Magnetic Resonance Imaging (MRI). This study aimed to assess the bony and cartilaginous features of hip joints and to explore the potentially related factors of femoral head osteonecrosis (FHN) and hip subluxation/dislocation in patients with MPS IVA. Hip joints in MPS IVA patients were retrospectively reviewed, based on the findings of PFR and MRI data from 2014 to 2019. Demographic information was also collected and analyzed with imaging measurements. A total of 19 patients (eight boys and 11 girls) were recruited, and 38 hip joints in these patients were examined. Eleven patients (57.9%) had FHN. FHN patients were statistically compared with those without FHN. Correlations between cartilaginous femoral head coverage (CFHC) and acetabular index (AI), cartilaginous AI (CAI), or neck-shaft angle (NSA) were investigated in patients with hip subluxation or dislocation. The greater cartilaginous coverage of the hips than their osseous inherency was observed. Significant correlation was observed between CFHC and AI (r =−0.351, <i>p</i> = 0.049) or CAI (r =−0.381, <i>p</i> = 0.032). Severe subluxations or dislocations were more likely to be present in those with more dysplastic bony and cartilaginous hips. In conclusion, our study provides the first systemic description of bony and cartilaginous characteristics in the hip morphology of MPS IVA patients. We have demonstrated that plain radiography alone leads to a misunderstanding of hip morphology and that MRI measurements with PFR are an essential tool to evaluate the ‘true’ characterization of hips for MPS IVA patients. |
| first_indexed | 2024-03-10T20:09:54Z |
| format | Article |
| id | doaj.art-d920ec4954734d75b52353d795e4c763 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T20:09:54Z |
| publishDate | 2020-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-d920ec4954734d75b52353d795e4c7632023-11-19T23:01:01ZengMDPI AGDiagnostics2075-44182020-04-0110526410.3390/diagnostics10050264Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVAZhigang Wang0Yunlan Xu1Enze Jiang2Jianmin Wang3Shunji Tomatsu4Kaiying Shen5Department of Pediatric Orthopedics, Shanghai Children’s Medical Center affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, ChinaDepartment of Pediatric Orthopedics, Shanghai Children’s Medical Center affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, ChinaDepartment of Pediatric Orthopedics, Shanghai Children’s Medical Center affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, ChinaDepartment of Hematology/Oncology, Shanghai Children’s Medical Center affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, ChinaDepartments of Orthopedics and BioMedical, Skeletal Dysplasia, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USADepartment of Pediatric Orthopedics, Shanghai Children’s Medical Center affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, ChinaPatients with mucopolysaccharidoses IVA (MPS IVA) have a progressive accumulation of the specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS), leading to the degeneration of the cartilage matrix and its connective tissue perturbing the regular microarchitecture of cartilage and successively distorting bone ossification and growth. Impaired cartilage quality and poor bone mineralization lead to serious hip disorders in MPS IVA patients. Although hip dysplasia is seen widely in musculoskeletal abnormality of this disorder, the pathophysiology of the hip bone and cartilage morphology in these patients remains unclear. Until now, no systemic study of the hip joints in MPS IVA has been reported by using the combined images of plain film radiographs (PFR) and Magnetic Resonance Imaging (MRI). This study aimed to assess the bony and cartilaginous features of hip joints and to explore the potentially related factors of femoral head osteonecrosis (FHN) and hip subluxation/dislocation in patients with MPS IVA. Hip joints in MPS IVA patients were retrospectively reviewed, based on the findings of PFR and MRI data from 2014 to 2019. Demographic information was also collected and analyzed with imaging measurements. A total of 19 patients (eight boys and 11 girls) were recruited, and 38 hip joints in these patients were examined. Eleven patients (57.9%) had FHN. FHN patients were statistically compared with those without FHN. Correlations between cartilaginous femoral head coverage (CFHC) and acetabular index (AI), cartilaginous AI (CAI), or neck-shaft angle (NSA) were investigated in patients with hip subluxation or dislocation. The greater cartilaginous coverage of the hips than their osseous inherency was observed. Significant correlation was observed between CFHC and AI (r =−0.351, <i>p</i> = 0.049) or CAI (r =−0.381, <i>p</i> = 0.032). Severe subluxations or dislocations were more likely to be present in those with more dysplastic bony and cartilaginous hips. In conclusion, our study provides the first systemic description of bony and cartilaginous characteristics in the hip morphology of MPS IVA patients. We have demonstrated that plain radiography alone leads to a misunderstanding of hip morphology and that MRI measurements with PFR are an essential tool to evaluate the ‘true’ characterization of hips for MPS IVA patients.https://www.mdpi.com/2075-4418/10/5/264mucopolysaccharidosis IVAfemoral head osteonecrosiship dysplasiacartilaginous characteristicsmagnetic resonance imaging |
| spellingShingle | Zhigang Wang Yunlan Xu Enze Jiang Jianmin Wang Shunji Tomatsu Kaiying Shen Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA Diagnostics mucopolysaccharidosis IVA femoral head osteonecrosis hip dysplasia cartilaginous characteristics magnetic resonance imaging |
| title | Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA |
| title_full | Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA |
| title_fullStr | Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA |
| title_full_unstemmed | Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA |
| title_short | Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA |
| title_sort | pathophysiology of hip disorders in patients with mucopolysaccharidosis iva |
| topic | mucopolysaccharidosis IVA femoral head osteonecrosis hip dysplasia cartilaginous characteristics magnetic resonance imaging |
| url | https://www.mdpi.com/2075-4418/10/5/264 |
| work_keys_str_mv | AT zhigangwang pathophysiologyofhipdisordersinpatientswithmucopolysaccharidosisiva AT yunlanxu pathophysiologyofhipdisordersinpatientswithmucopolysaccharidosisiva AT enzejiang pathophysiologyofhipdisordersinpatientswithmucopolysaccharidosisiva AT jianminwang pathophysiologyofhipdisordersinpatientswithmucopolysaccharidosisiva AT shunjitomatsu pathophysiologyofhipdisordersinpatientswithmucopolysaccharidosisiva AT kaiyingshen pathophysiologyofhipdisordersinpatientswithmucopolysaccharidosisiva |