Children with acute Perthes' disease have asymmetrical lower leg growth and abnormal collagen turnover

Crofton, Patricia M.; Macfarlane, C.; Wardhaugh, Barbara; Ranke, Michael B.; Elmlinger, Martin W.; Kelnar, Christopher J. H.; Macnicol, Malcolm F.

doi:10.1080/17453670510045462

Cited by 6 publications

(6 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Plasma levels of IGF-1 were reduced the first 2 years after the diagnosis of LCPD [87], but with normal levels of IGF-binding protein [88]. Low levels of IGF-1 were confirmed by Crofton et al [89], who also noted abnormal collagen turnover in the acute stages of LCPD. In plasma, nearly all the IGF-1 is bound to specific binding proteins, which for IGF-1 is the IGF-binding protein 3 (IGFBP3).…”

Section: Resultsmentioning

confidence: 99%

“…Markers of type I collagen degradation are urinary deoxypyridinoline (DPD) and type I collagen telopeptide (ICTP). ICTP is higher in children with LCPD compared to controls [89], indicating an increase in type I collagen degradation. The median urinary DPD/creatinine ratio in children with LCPD is reduced during the fragmentation stage and returns to normal (if not slightly higher) in the healed stage [131] (Figure 5).…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

The Epidemiology and Demographics of Legg-Calvé-Perthes' Disease

Loder

Skopelja

2011

ISRN Orthopedics

View full text Add to dashboard Cite

The etiology of Legg-Calvé-Perthes' disease (LCPD) is unknown. There are many insights however from epidemiologic/demographic information. A systematic medical literature review regarding LCPD was performed. The incidence ranges from 0.4/100,000 to 29.0/100,000 children <15 years of age. There is significant variability in incidence within racial groups and is frequently higher in lower socioeconomic classes. The typical age at presentation ranges from 4 to 8 years (average 6.5 years), except for children from the Indian subcontinent (average 9.5 years). There is a mild familial component. The children demonstrate impaired growth in height, skeletal age, and birth weight. This impaired growth coincides with an age appropriate reduced somatomedin A activity and decreased levels of IGF. LCPD can be associated with abnormalities in the coagulation cascade, including an increase in factor V Leiden mutation, low levels of protein C and/or S, and decreased antithrombin activity. There is decreased turnover in type I collagen and synthesis of type III collagen, as well as reduced levels of urinary glycosaminoglycans in the active phases of the disorder. Subtle abnormalities in the opposite hip and other minor/major congenital defects are reported. Children with LCPD are active and score abnormally in certain standardized psychological tests.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

The Epidemiology and Demographics of Legg-Calvé-Perthes' Disease

Loder

Skopelja

2011

ISRN Orthopedics

View full text Add to dashboard Cite

show abstract

“…Studies have also shown the presence of COL2A1 mutations in patients with Perthes disease. Crofton et al found lower soft tissue collagen synthesis and enhanced collagen breakdown in children with Perthes’ disease compared to healthy controls [ 2 ]. Su et al found a mutation of COL2A1 that caused abnormal chondrocytes, disarrangement of fibres and decreased stability in the femoral head cartilage of patients with Perthes’ disease [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

“…Due to the defect collagen found in patients with Perthes’ disease in these studies, a possible link between Perthes’ disease and other COL2A1-related disorders has been suggested [ 2 – 5 , 8 – 10 ]. However, these studies are based on small populations and different mutations in the gene.…”

Section: Introductionmentioning

confidence: 99%

“…The cause for Perthes' disease is unknown but it is most often described as multifactorial. One hypothesis is a disturbance in collagen type II synthesis and structure [2][3][4][5]. Collagen type II is the major structural component of the extracellular matrix in hyaline cartilage, intervertebral discs, retina, sclera and lenses of the eyes.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

No correlation to collagen synthesis disorders in patients with Perthes’ disease: a nationwide Swedish register study of 3488 patients

Lindblad,

Bladh,

Björnsson-Hallgren

et al. 2024

BMC Musculoskelet Disord

View full text Add to dashboard Cite

Background Mutations of the COL2A1 gene have been identified in patients with Perthes’ disease. Several studies have hypothesised a connection between Perthes’ disease and collagen synthesis disorders, especially COL2A1-related disorders, but no large studies on the subject have been made. The aim of this study was thus to discover if there is a connection between patients presenting with Perthes’ disease, and collagen synthesis disorders. A secondary aim was to see if the children with both disorders had less optimal birth characteristics than the rest. Methods Swedish national registers were used to collect data on children diagnosed with Perthes’ disease or a collagen synthesis disorder. These registers include all births in Sweden, and data from both outpatient and in-hospital visits. A wide range of data is included besides diagnoses. All children with follow-up data to the age of 15 years were included. Pearson’s chi-square was used for analysis. Statistical significance was further analysed with Fisher’s Exact Test. Results In total, 3488 children with either diagnosis were included. 1620 children had only Perthes disease, while 1808 children had only a collagen synthesis disorder. Five children were found to have both the diagnosis Perthes’ disease and a collagen synthesis disorder. One child was large for their gestational age and none of the children had a low birthweight. Two of the children were moderately preterm. Conclusions The distinct lack of overlap in such a large body of material raises doubt about a connection between the presentation of Perthes’ disease and collagen synthesis disorders, either COL2A1-related or not. We could not find an overrepresentation of less optimal birth characteristics either.

show abstract