Paget's disease of the bone in a Chinese woman

H’ng, Martin Weng Chin; Ho, Yvonne Y.

doi:10.1111/j.1440-1673.2005.01481.x

Cited by 5 publications

(3 citation statements)

References 3 publications

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“…The prevalence of PDB is as high as 5% among people above 55 in Western countries (3,8,9); however, it is extremely rare in Asians, with only a few cases reported in China (1,(12)(13)(14)(15). To gain better insight into the clinical characteristics and reduce the rate of clinical misdiagnosis among Chinese patients, we analyzed the clinical features in 50 Chinese sporadic PDB patients.…”

Section: Discussionmentioning

confidence: 99%

“…For instance, the incidence rate in Japan is merely 0.00028% (2). So far as we know, the literatures on sporadic PDB in Chinese population are confined to case reports (12)(13)(14)(15), no systemic study is available with relatively large sample size up to date. In 2012, we reported our study in thirteen sporadic PDB patients (1).…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, it is imperative to determine the genetic etiology of PDB and provide guidance for efficient molecular diagnosis. Considering the different genetic background between Chinese and Caucasian population (1,(10)(11)(12)14), the exploration of potential pathogenic genes of PDB in Chinese population also beneficial to explain the pathogenesis of PDB.…”

Section: Introductionmentioning

confidence: 99%

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Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget’s Disease of Bone

et al. 2022

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ObjectiveTo evaluate the clinical features of sporadic Paget’s disease of bone (PDB) in China and further explore the underlying genetic abnormalities of the disease.MethodsClinical characteristics, biochemical indices, bone turnover markers and radiographic examinations of the patients were collected. Genomic DNA was extracted from peripheral blood and whole-exome sequencing was carried out to identify the potential pathogenic genes. The pathogenicity of the variants was thereafter investigated by bioinformatics analysis.ResultsA total of 50 patients (57.20 ± 15.52 years, male/female: 1.63: 1) with PDB were included and the mean onset age was 48.34 years (48.34 ± 17.24 years). 94.0% of the patients exhibited symptomatic patterns described as bone pain (86.0%), elevated skin temperature at the lesion site (26.0%), bone deformity (22.0%) and local swelling (18.0%). The most frequently involved lesion sites were pelvis (52.0%), femur (42.0%), tibia (28.0%), skull (28.0%) and spine (18.0%), respectively. Additionally, 40.0% of them accompanied with osteoarthritis, 14.0% with pathological fractures, and the misdiagnosis rate of PDB was as high as 36.0%. Serum level of alkaline phosphatase was significantly increased, with the mean value of 284.00 U/L (quartiles, 177.00-595.00 U/L). Two heterozygous missense mutations of SQSTM1 gene (c.1211T>C, M404T) and one novel heterozygous missense mutation in HNRNPA2B1 gene (c.989C>T, p. P330L) were identified in our study. Moreover, several potential disease-causing genes were detected and markedly enriched in the pathways of neurodegeneration (including WNT16, RYR3 and RYR1 genes) and amyotrophic lateral sclerosis (ALS, including NUP205, CAPN2, and NUP214 genes).ConclusionIn contrast to Western patients, Chinese patients have an earlier onset age, more severe symptoms, and lower frequency of SQSTM1 gene mutation (4.0%). Moreover, a novel heterozygous missense mutation in HNRNPA2B1 gene was identified in one male patient with isolated bone phenotype. As for other genetic factors, it was indicated that WNT16, RYR3, RYR1, NUP205, CAPN2 and NUP214 genes may be potential pathogenic genes, pathways of neurodegeneration and ALS may play a vital role in the pathogenesis of PDB.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget’s Disease of Bone

et al. 2022

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Asymptomatic Paget’s bone disease in ethnic Thais: a series of four case reports and a review of the literature

et al. 2011

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Paget's bone disease is quite common in some parts of Europe and countries inhabited by European emigrants, but it is rare in Asia. There have been only 13 reported cases in Southeast Asia, including one reported case from Thailand. Half of the previously reported cases had bone symptoms and the other half were asymptomatic, but were incidentally discovered when patients were being investigated for other medical problems. Here are reported cases of four asymptomatic patients who presented elevation of serum alkaline phosphatase during routine annual medical checkups. All patients were of Chinese descent and all cases were proven by biopsy. Based on this experience, we are of the opinion that a substantial number of unrecognized cases of Paget's disease exist among ethnic Thais. We feel that they would be revealed if clinicians were alerted of its presence and if they included it as a possible diagnosis together with metastasis and osteoporosis when examining bone lesions or when results for elevated serum alkaline phosphatase are detected during routine checkups. We also anticipate that a higher prevalence of this disease may occur in future Thai generations due to the addition of offspring from Asian-European intermarriages to offspring of Chinese descent in the ethnic Thai population.

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Paget's Disease of Bone: Evidence for Complex Pathogenetic Interactions

Chung¹,

Hul²

2012

Seminars in Arthritis and Rheumatism

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Paget's disease of the bone in a Chinese woman

Cited by 5 publications

References 3 publications

Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget’s Disease of Bone

Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget’s Disease of Bone

Asymptomatic Paget’s bone disease in ethnic Thais: a series of four case reports and a review of the literature

Paget's Disease of Bone: Evidence for Complex Pathogenetic Interactions

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