Intermediate type of Juvenile Paget's disease: A rare case in Indian population

Kumar, Sachin; Bagalad, Bhavana S; Manohar, Ch Balakrishna; Kuberappa, Puneeth Horatti

doi:10.4103/ccd.ccd_1097_16

Cited by 2 publications

(4 citation statements)

References 12 publications

(30 reference statements)

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“… A cartoon of the number of published case reports/series on Paget Disease of Bone from India from Pubmed and Google Scholar from 1963 to 2019. [ 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 ] The size of the dots is representative of the number of case reports from that state. Size expressed as a fraction (0.1cm X Number of cases) and for purpose of rep-resentation, the largest representation is shown as Square root of (0.1cm X Number of cases) …”

Section: Discussionmentioning

confidence: 99%

Is paget disease of bone more common in South India? Clinical characteristics, therapeutic outcome and follow-up of 66 patients from Tamil Nadu

Asirvatham

Kannan

Mahadevan

et al. 2020

Indian J Endocr Metab

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Introduction: Paget disease of bone (PDB) is a disorder of altered bone remodeling mainly characterized by increased osteoclastic activity. While the exact Indian prevalence remains unknown, a clustering of published cases suggests South Indian predominance. Objective: To study the clinico-biochemical profile and therapeutic response of patients with PDB and briefly review the epidemiology of PDB from an Indian perspective. Materials and Methods: Retrospective data was collected from the charts of patients who have been seen in endocrine out-patient clinics in Tamil Nadu over a 12-year period. Published literature on PDB from India was reviewed. Results: A total of 66 patients (71% males) predominantly from Tamil Nadu were studied. The mean age at presentation was 67 ± 8 years. Polyostotic involvement was seen in 89% and familial occurrence of PDB in 5 patients. Symptoms at presentation mainly included bone pain (51%) and skeletal deformities (18%). Scalp vein sign (21%) and sensorineural hearing loss (64%) were also noted. Incidental PDB detection by raised serum alkaline phosphatase (SAP) levels was observed in 17% and by abnormal fluorodeoxyglucose-positron emission tomography (FDG-PET) scan in 6% of cases. Mean SAP at presentation was 606 ± 438 IU/L (Normal, 76–140). Major skeletal site involvement includes pelvis (62.1%) and spine (34.8%). Mean (range) follow-up of the cohort was 3.4 yrs (1–12 yrs). In all, 64 subjects received zoledronate and two received alendronate, and mean (SD) SAP at 1-year was 73 ± 42 IU/L. All but two showed remission at the end of 1 year. Two had pathological fractures and two had sarcomas. A review of epidemiology of PDB in Indian literature clearly showed a South Indian predilection for unclear reasons. Conclusion: In our cohort of PDB, male gender, polyostotic involvement, and hearing impairment were noted in more than two-thirds of patients and single-dose intravenous zoledronate was effective in normalizing SAP in almost all patients. PDB is intriguingly more common in South India and this needs more exploration.

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Section: Discussionmentioning

confidence: 99%

Is paget disease of bone more common in South India? Clinical characteristics, therapeutic outcome and follow-up of 66 patients from Tamil Nadu

Asirvatham

Kannan

Mahadevan

et al. 2020

Indian J Endocr Metab

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“…However, given that a wide variety of genetic and environmental factors play a role in the development of bone diseases such as osteoporosis and idiopathic hyperphosphatasia and limited research is available on this mutation, future studies are recommended to investigate the presence of this mutation in people (men and women) with osteoporosis and other bone diseases. Moreover, the mutation in other genes like RANK, CSF1, and TM7SF4 related to idiopathic hyperphosphatasia (7,8) can also be evaluated in osteoporotic males and females.…”

Section: Discussionmentioning

confidence: 99%

“…Generally, babies are normal at birth, but they gradually exhibit bone radiological changes, bone fractures, bone pain, and skull enlargement, as well as the increased risk of pathologic fractures and non-bone changes (8).…”

Section: Introductionmentioning

confidence: 99%

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Investigation of the presence of G354A (Cys87Tyr) mutation in osteoprotegerin gene in women with osteoporosis in Chaharmahal and Bakhtiari province

Mousavi

Dehghan

Pourahmad

2019

J Shahrekord Univ Med Sci

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Background and aims: Osteoprotegerin (OPG) is a competitive inhibitor of the differentiation and activity of osteoclasts, which inhibits the final stages of osteoclast formation and induces its apoptosis. In addition, OPG is considered as one of the most important candidate genes in the pathogenesis of bone diseases such as osteoporosis and idiopathic hyperphosphatasia. The G354A (Cys87Tyr) mutation in the OPG gene leads to idiopathic hyperphosphatasia. This mutation is probably related to osteoporosis. The purpose of this study was to investigate the presence of G354A (Cys87Tyr) in women with osteoporosis in Chaharmahal and Bakhtiari province. Methods: In this descriptive-analytical study, the bone mineral density (BMD) of the femoral neck and lumbar spine of women referring to Shahrekord bone densitometry centers was measured by the X-ray absorptiometry technique in 2013-2014. Based on T-scores, people with osteoporosis were identified and 70 patients were enrolled in the study after receiving their consent. Finally, DNA was extracted from blood samples, amplified by polymerase chain reaction (PCR) technique, and sequenced by DNA sequencing method. Results: After DNA extraction from the blood, the quality and quantity were determined by gel electrophoresis and spectrophotometry, respectively. Then, the gene was amplified by the PCR method and the product was detected by gel electrophoresis, followed by sequencing the samples to investigate the presence of the mutation. Eventually, genotypes associated with Cys87Tyr mutation were not observed in the studied population. Conclusion: In the present study, the G354A (Cys87Tyr) mutation associated with idiopathic hyperphosphatasia was not found in women with osteoporosis.

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Intermediate type of Juvenile Paget's disease: A rare case in Indian population

Cited by 2 publications

References 12 publications

Is paget disease of bone more common in South India? Clinical characteristics, therapeutic outcome and follow-up of 66 patients from Tamil Nadu

Is paget disease of bone more common in South India? Clinical characteristics, therapeutic outcome and follow-up of 66 patients from Tamil Nadu

Investigation of the presence of G354A (Cys87Tyr) mutation in osteoprotegerin gene in women with osteoporosis in Chaharmahal and Bakhtiari province

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