P072 Lobstein's disease: about 12 observations

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_5) ◽  
Author(s):  
Olfa Jomaa ◽  
Jguirim Mahbouba ◽  
Zrour Saoussen ◽  
Bejia Ismail ◽  
Touzi Monji ◽  
...  

Abstract Background Osteogenesis imperfecta (OI), or Lobstein's disease, is a rare inherited disorder characterized by bone fragility and low bone mass. The symptoms are diverse, with varying severity of skeletal signs and inconstant extra-skeletal signs. Type 1 is the most frequent form (about 60% of cases). Our objective is to describe the different clinical pictures hospitalized in our department during the last 15 years. Patients and methods This is a retrospective descriptive study including 12 patients followed for OI, hospitalized in the rheumatology department of Fattouma Bourguiba University Hospital Monastir TUNISIA between 2006 and 2019. The records were collected and analyzed. Results There were 9 boys and 3 girls with a mean age of 14.9 ± 8.6 years. Consanguinity was reported in 25% of cases. The chief reason for consultation was recurrent fractures (75%), blue sclera (16.7), and bone deformation (8.3%). The average number of anterior fractures was 5, with low-energy trauma as the mechanism in all cases. Similar cases in the family were noted in 41.6% of cases, in siblings in 25% of cases. The mean age of the first fracture was 4.41 ± 3.2 years. The most frequent fracture sites were respectively: femur (7/12), leg (6/12), tibia (3/12), humerus (4/12), ankle (2/12), and forearm (2/12). The deformity was noted in 58.3% of cases: lumbar kyphosis (2), exaggerated dorsal kyphosis (2), bracketed femurs (2), and anarchic deformity of 2 lower limbs (1). Dentinogenesis imperfecta was found in 8.3% of cases, while ENT examination revealed a conductive and sensorineural hearing loss in 2 patients each. The main radiological abnormalities were diffuse bone demineralization in 9 patients, thinning of the cortical bone in 5 patients, vertebral fractures in 3 patients, and fracture in 2 patients. Bone densitometry showed a mean Z-score of 3.49 ± 1.4 in the lumbar spine. The mean blood calcium level was 2.38 ± 1.15, alkaline phosphatase was elevated in all cases with a mean of 756 ± 624.9, and vitamin D levels were deficient in all cases with a mean of 22.75 ± 5.3. In addition to vitamin-calcium supplementation, all patients received intravenous pamidronate at a dose of 9 mg/kg/year with an average of 6 courses. The main side effects noted at the time of infusion were abdominal pain, polyarthralgia and asthenia (1 patient), chest pain (1 patient), and fever and chills (1 patient). Control bone densitometry showed a mean Z score of 1.81 ± 1.2 in the lumbar spine. Conclusions Osteogenesis imperfecta is a severe disease with a risk of serious complications t. In the absence of etiological treatment, symptomatic management must be both early and multidisciplinary.

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1395.1-1395
Author(s):  
O. Jomaa ◽  
J. Mahbouba ◽  
S. Zrour ◽  
I. Bejia ◽  
M. Touzi ◽  
...  

Background:Osteogenesis imperfecta (OI), is a rare hereditary disease characterized by bone fragility and low bone mass. The clinical presenatation is various with varying severity skeletal signs and inconstant extra-skeletal signs. Type 1 is the most common form (60% of cases).Objectives:Our objective is to describe the various clinical features observed over a period of 15 years.Methods:This is a retrospective descriptive study including 12 patients followed for OI, hospitalized in the Rheumatology Department at Fattouma Bourguiba Hospital Monastir TUNISIA between 2006 and 2019. Files were collected and analyzed.Results:They are 9 boys and 3 girls with an average age of 14.9 ± 8.6 years. Consanguinity was reported in 25% of cases. The reason leading to consultation was, recurrent fractures (75%), blue sclera (16.7), and bone deformity (8.3%). The number of previous fractures was on average of 5, all of which were caused by a low energy trauma. Similar family cases were noted in 41.6%. The mean age of the first fracture was 4.41 ± 3.2 years. The most frequent fracture sites were respectively: femur (7/12), leg (6/12), tibia (3/12), humerus (4/12), ankle (2/12), and forearm (2/12). A deformity was noted in 58.3% of the cases: lumbar kyphosis (2), exaggerated dorsal kyphosis (2), femurs in parenthesis (2), and an anarchic deformity of 2 lower limbs (1). Imperfect dentinogenesis was found in 8.3% of cases, while ENT examination revealed conductive and sensorineural hearing loss in 2 patients each. The main radiological abnormalities were diffuse bone demineralization (9 patients), cortical thinning (5 patients), vertebral compression (3 patients), and fracture (2 patients). The bone densitometry showed a mean Z score of 3.49±1.4 in the lumbar spine. The average serum calcium level was 2.38±1.15, alkaline phosphatases were elevated in all cases with an average of 756±624.9. The vitamin D level was deficient in all cases with an average of 22.75±5.3. All patients received in addition to the vitamin-calcium supplementation, pamidronate intravenously at a dose of 9mg/kg/year with a mean number of 6 cures. The main side effects observed during the infusion were abdominal pain, polyarthralgia and asthenia (1 patient), chest pain (1 patient) and fever and chills (1 patient). The control bone densitometry showed a mean Z score of 1.81±1.2 in the lumbar spine.Conclusion:Despite advances in the OI diagnosis and treatment, more research is needed. Bisphosphonate treatment decreases long-bone fracture rates, but such fractures are still frequent. New antiresorptive and anabolic agents are being investigated but efficacy and safety of these drugs, especially in children, need to be better established before they can be used in clinical practice.References:[1]https://doi.org/10.1097/med.0000000000000367Disclosure of Interests:None declared


2021 ◽  
Vol 149 ◽  
Author(s):  
Aysegul Alpcan ◽  
Serkan Tursun ◽  
Yaşar Kandur

Abstract Several studies have demonstrated that higher levels of vitamin D are associated with better prognosis and outcomes in infectious diseases. We aimed to compare the vitamin D levels of paediatric patients with mild/moderate coronavirus disease 2019 (COVID-19) disease and a healthy control group. We retrospectively reviewed the medical records of patients who were hospitalised at our university hospital with the diagnosis of COVID-19 during the period between 25 May 2020 and 24 December 2020. The mean age of the COVID-19 patients was 10.7 ± 5.5 years (range 1–18 years); 43 (57.3%) COVID-19 patients were male. The mean serum vitamin D level was significantly lower in the COVID-19 group than the control group (21.5 ± 10.0 vs. 28.0 ± 11.0 IU, P < 0.001). The proportion of patients with vitamin D deficiency was significantly higher in the COVID-19 group than the control group (44% vs. 17.5%, P < 0.001). Patients with low vitamin D levels were older than the patients with normal vitamin D levels (11.6 ± 4.9 vs. 6.2 ± 1.8 years, P = 0.016). There was a significant male preponderance in the normal vitamin D group compared with the low vitamin D group (91.7% vs. 50.8%, P = 0.03). C-reactive protein level was higher in the low vitamin D group, although the difference did not reach statistical significance (9.6 ± 2.2 vs. 4.5 ± 1.6 mg/l, P = 0.074). Our study provides an insight into the relationship between vitamin D deficiency and COVID-19 for future studies. Empiric intervention with vitamin D can be justified by low serum vitamin D levels.


2019 ◽  
Vol 3 (Supplement_1) ◽  
pp. S885-S886
Author(s):  
Min-gu Kang ◽  
Kwang-il Kim ◽  
Joon Koo Kang ◽  
Seong-Ji Kang ◽  
Hye-Kang Roh ◽  
...  

Abstract As slow gait speed is a major feature of frailty and a diagnostic criterion of sarcopenia, gait speed measurement is widely used. Nowadays, with development of wearable devices, it is possible to measure daily-life gait speed without additional effort just by wearing the device. It is meaningful to measure daily-life gait speed and to analyze the association between the speed and sarcopenia. Participants were men over 50 years of age who visited the university hospital. Daily-life gait speed was checked using a smart belt (WELT) for 4 weeks. Afterwards, a survey about past medical history, usual gait speed measurement, handgrip strength measurement, and dual energy X-ray absorptiometry were performed. A total of 217,548 daily-life gait speed measurement data were analyzed for 106 participants. The mean daily-life gait speed was 1.23 ± 0.26 m/s. The mean age was 71.1 ± 7.6, and daily-life gait speed was significantly slower as people get older. (P&lt;0.001) Additionally, weekday gait speed (1.23 ± 0.26 m/s) was significantly faster than weekend gait speed (1.22 ± 0.26 m/s). (P&lt;0.001) Participants with sarcopenia (1.15 ± 0.25 m/s) had significantly slower mean daily-life gait speed than normal subjects (1.23 ± 0.26 m/s). (P&lt;0.001) In analyzing factors related to gait speed, age and skeletal muscle mass of lower limbs were significantly associated with mean daily-life gait speed. Additional information about the gait speed can be obtained by measuring daily-life gait speed, and the daily-life gait speed has a significant association with the skeletal muscle mass of lower limbs.


2017 ◽  
Vol 98 (3) ◽  
pp. 343-348 ◽  
Author(s):  
L A Fomina ◽  
I A Zyabreva

Aim. To evaluate the state of bone tissue in comparison with calcium balance, to clarify the risk for fracture development in women of different age groups. METHODS. 92 females aged 19 to 89 years were examined clinically with densitometry of lumbar spine and femoral neck and measuring the concentration of total calcium in the blood. RESULTS. In females younger than 50 years decreased bone density according to Z-score was revealed in 30% of cases, among patients with its normal values significant trend to bone rarefaction (-2.0 SD <Z-score ≤-1.5 SD) was registered with the same rate. In the group of females older than 50 years osteopenia was revealed in 46.3% of cases and osteoporosis - in 42.7%, while more significant decrease in bone mineral density was found in the lumbar spine. Past medical history of fractures increased the rate of osteoporosis by 18%. In females older than 50 years compared to younger patients a significant increase of blood calcium concentration was revealed. Besides, statistically significant increase of its level was noted in cases of fractures in the past and osteoporosis. The revealed changes of bone tissue in females below 50 years of age are indicative of increased risk of osteoporosis development in the future. CONCLUSION. High prevalence of osteoporosis and osteopenia is revealed in the examined patients older than 50 years, and bone mineral density parameters were significantly inversely correlated with calcemia; hence, blood calcium level can be one of the criteria of bone tissue state and in combination with other risk factors for osteoporosis should be taken into account during periodic health examination of females older than 50 years.


Author(s):  
Aliou Abdoulaye Ndongo ◽  
Djibril Boiro ◽  
Idrissa Basse ◽  
Younoussa Kéita ◽  
Ndiogou Seck ◽  
...  

Background and Aim: Idiopathic nephrotic syndrome or nephrosis causes massive protein leakage in the urine. Its treatment requires steroids (prednisone, methylprednisolone), often for a prolonged period, notably in case of steroid-dependence or steroid-resistance. In children, long-term use of steroids can lead to several side effects such as statural growth retardation/ stunting. This study evaluated the frequency of stunting in idiopathic nephrotic syndrome in children on steroids and identified the associated factors.      Material and Methods: This was a retrospective, descriptive cohort study carried out in children aged 0 to 16 years treated at the paediatric nephrology unit of Aristide Le Dantec Hospital in Dakar, between 1 December 2017 and 31 May 2020. All records of nephrotic children treated in outpatient or inpatient setting were included. These children had to be on corticosteroid therapy for at least 30 months and have a height taken regularly during follow-up consultations. Results: Of 259 children followed for idiopathic nephrotic syndrome, 93 were included in the study. The median age was 96.5 months and the sex ratio was 1.9. The mean height of the children at the beginning of the follow-up was -0.26 DS, at the end it was -0.88 DS. At the beginning of the follow-up, 8 children had already stunting. At 12 months follow-up, 72 children (77.4%) had a decrease in z-score; and at 30 months, there were 7 more children (84.9%) who had a decrease in z-score. Methylprednisolone boluses were given to 17 children (18.3%). Calcium supplementation was done in 91 children (97.8%). Vitamin D supplementation was given to 91 children (97.8%). The mean number of relapses was 1.8. Factors associated with stunting were number of relapses ≤3 (p=0.03), duration of corticosteroid therapy >6 months (p<0.0001) and cumulative doses of prednisone >100 mg/kg (p=0.04). Conclusion: In prolonged nephrotic syndrome in children, corticosteroids can cause stunting.


2021 ◽  
Vol 15 (Supplement_1) ◽  
pp. S422-S423
Author(s):  
A Jois ◽  
S Perera ◽  
P Simm ◽  
G Alex

Abstract Background Low bone mineral density (BMD) is a complication in children with Inflammatory Bowel Disease (IBD). Dual-energy X-ray absorptiometry (DXA) is an established screening tool for BMD, yet there are limited data to guide its use in children with IBD. We performed a single site retrospective analysis of the use of DXA and evaluated factors associated with low BMD. Methods Children 3-18 years with IBD diagnosed between 2013-2018 at The Royal Children’s Hospital, Melbourne, Australia, were included. Patient, disease and treatment demographics were collected alongside vitamin D, calcium, CRP, ESR, albumin and faecal calprotectin (FCP) (averaged over 6 months before and after DXA). Rates of corticosteroid use, vitamin D and calcium supplementation, bisphosphonate use and fractures were also collected. Mann-Whitney and Fisher exact tests were used for continuous and categorical group comparison, respectively. Data are presented as median (interquartile range). Results 239 children diagnosed at a median age of 12 (9.1-14.2) were followed for 5.1 (4-6.4) years. 72/239 (30%) children had at least one DXA at 11 (1.25-28.8) months post diagnosis. 28/72 (39%) children had a follow-up DXA 2.3 (1.9-2.9) years post diagnosis. Children referred for DXA had a lower weight centile (48.7 (17.1-78.2) vs 59.7 (31.4-84.7), p=0.03), and were more likely to have Crohn’s disease (OR 2.18, p=0.01). At first DXA, median lumbar spine (LS) Z score was -0.80 (-1.65-0.08), height adjusted LS Z score was -0.65 (-1.18-0.10), hip Z score was -1.30 (-1.80--0.35) and total body less head Z score was -1.40 (-2.55--0.70). 18/72 children had LS Z score &gt; 0. Children with LS Z score &lt; -2.0 (n=14) had lower weight (6.57 (1.78-23.7) vs 51.1 (26.5-68.7), p=0.0002) and height centiles (3.62 (1.17-17.1) vs 42 (16.9-67.1), p&lt;0.0001), higher FCP (3041 (1182-4192) vs 585 (139-2419), p=0.009) (Figure 1), and higher odds of calcium supplementation (OR 16 (95% CI 2.93-89.1), p=0.003) and endocrinology review (OR 9.61 (95% CI 2.65-31.0), p=0.001). No fractures were reported. Of the 28 children with serial DXAs, there was no significant change in Z scores. When comparing children with a worse (16/28) Z score at second DXA to those with improvement (12/28), there was a trend toward lower vitamin D levels (37 (25.2-58.3) vs 62 (46.3-87), p=0.06) at first DEXA, and higher ESR at second DEXA (23.4 (19.3-29) vs 8.20 (3.5-21.9), p=0.02). Conclusion Almost one third of children with IBD at a tertiary referral centre underwent DXA, with lower BMD than age and sex matched controls. Disease activity markers FCP and ESR were associated with lower BMD. There was no significant change in DXA score over time. No fractures were identified over the study period.


RMD Open ◽  
2020 ◽  
Vol 6 (1) ◽  
pp. e001142
Author(s):  
Lisa Theander ◽  
Minna Willim ◽  
Jan Åke Nilsson ◽  
Magnus Karlsson ◽  
Kristina E Åkesson ◽  
...  

ObjectivesTo investigate changes in bone mineral density (BMD) in patients with early rheumatoid arthritis (RA) over a 10-year period.MethodsConsecutive patients with early RA (symptom duration <12 months) were followed according to a structured programme and examined with dual-energy X-ray absorptiometry (DXA) at inclusion and after 2, 5 and 10 years. Mean Z-scores over the study period were estimated using mixed linear effect models. Changes in Z-scores between follow-up visits were analysed using paired T-tests.ResultsAt inclusion, 220 patients were examined with DXA. At the femoral neck, the mean Z-score over 10 years was −0.33 (95 % CI −0.57 to −0.08) in men and −0.07 (−0.22 to 0.08) in women. Men had significantly lower BMD at the femoral neck than expected by age at inclusion (intercept Z-score value −0.35; 95 % CI −0.61 to −0.09), whereas there was no such difference in women. At the lumbar spine, the mean Z-score over the study period for men was −0.05 (−0.29 to 0.19) and for women 0.06 (−0.10 to 0.21). In paired comparisons of BMD at different follow-up visits, femoral neck Z-scores for men decreased significantly from inclusion to the 5-year follow-up. After 5 years, no further reduction was seen.ConclusionsIn this observational study of a limited sample, men with early RA had reduced femoral neck BMD at diagnosis, with a further significant but marginal decline during the first 5 years. Lumbar spine BMD Z-scores were not reduced in men or women with early RA. Data on 10-year follow-up were limited.


2019 ◽  
Vol 44 (5) ◽  
pp. 585-593
Author(s):  
Sevcan Uğur ◽  
Cahit Kaçar ◽  
Sebahat Özdem

Abstract Background To evaluate the association of parathormone with vitamin D and to find a threshold value for vitamin D. Material and methods This descriptive study included 11,753 (2352 males, 9401 females) patients from University hospital and 25-OH vitamin D and PTH levels were evaluated. Results The mean parathormone level was 49.33 ± 22.39 pg/mL. 18.7% of the patients had hyperparathyroidism. 77.4% of the patients had low 25-OH D vitamins. There was a negative correlation between serum parathormone levels and 25-OH vitamin D levels. The minimum 25-OH vitamin D level to keep PTH below 65 pg/mL was 18.5 ng/mL. Conclusion For determining the threshold value of 25 OH vitamin D, serum PTH levels should be assessed with 25-OH vitamin D levels.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Ishani Choksi ◽  
Thomas O Carpenter ◽  
Cemre Robinson

Abstract Background: Osteogenesis imperfecta (OI) is characterized by bone fragility and increased fracture susceptibility. Most mutations occur in COL1A1 and COL1A2 genes. Rarely, mutations in BMP1 have been reported in association with OI type XIII. Disease severity is generally more severe when the mutation affects both gene products encoded by BMP1 that serve as procollagenases: bone morphogenic protein 1 and mammalian tolloid (mTLD) [1]. Clinical Case: A 7-year-old Hispanic boy, with speech and gross motor delays, sustained five bilateral tibial fractures with minimal trauma since age 2.5 years. At age 6 years, he developed severe back pain after a minor fall. Diffuse spinal osteopenia and multiple vertebral compression fractures (VCF) at T9, L1, L3 were identified radiographically, with progressive vertebral height loss in the ensuing 9 months. Fatigue was reported after walking &gt;10 min, with difficulty running and climbing stairs. There was no family history of musculoskeletal disorders. Stature was consistently between 10-15th% for age. Subtle facial dysmorphism included micrognathia and small chin, with patchy blue-gray sclerae, and normal dentition. The lumbar spine was tender to percussion. Gait was slow and antalgic with external rotation of the right hip. Laboratory evaluation revealed normal serum calcium, iPTH, magnesium, phosphate, 25-hydroxyvitamin D and alkaline phosphatase for age. P1NP was slightly high (193 µg/L, 30-110 µg/L) and CTX was slightly low (554 pg/mL, n: 574-1849 pg/mL), the latter being atypical for OI. Total hip BMD (adjusted for height Z-score) was normal (Z-score = 1.76) and adjusted femoral neck BMD was high (Z-score = 2.67). VCFs precluded assessment of lumbar spine BMD. Genomic analysis revealed a homozygous missense mutation in exon 4 of BMP1 resulting in an amino acid substitution (c. C505T; p.Arg169Cys) in both the bone morphogenetic protein 1 and mTLD gene products of BMP1. The mutation is predicted to be damaging to both proteins, and associated with this rare form of OI. Conclusion: We report a novel homozygous mutation in BMP1 identified in a child with autosomal recessive OI. Unlike most forms of OI, patients with type XIII often have normal or increased BMD [1], making a correlation between BMD and fracture risk difficult. While bisphosphonates (BP) may help reduce recurrent fractures and provide symptomatic relief, the broad phenotypic spectrum and concern for further increasing BMD complicate management. A high resolution peripheral quantitative CT scan to assess bone microarchitecture and quality may aid in the decision of BP therapy. As evidence is limited on the effectiveness of BP in this rare form of OI, it is important to consider each case individually. 1. Sangsin, A., et al., Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report. BMC Med Genet, 2017. 18(1): p. 25.


Author(s):  
Jeniffer Danielle M. Dutra ◽  
Quelson Coelho Lisboa ◽  
Silvia Marinho Ferolla ◽  
Carolina Martinelli M. L. Carvalho ◽  
Camila Costa M. Mendes ◽  
...  

Abstract. Some epidemiological evidence suggests an inverse correlation between non-alcoholic fatty liver disease (NAFLD) frequency and vitamin D levels. Likewise, a beneficial effect of vitamin D on diabetes mellitus (DM) and insulin resistance has been observed, but this is an unsolved issue. Thus, we aimed to investigate the prevalence of hypovitaminosis D in a NAFLD Brazilian population and its association with disease severity and presence of comorbidities. In a cross-sectional study, the clinical, biochemical and histological parameters of 139 NAFLD patients were evaluated according to two different cut-off points of serum 25-hydroxyvitamin D levels (20 ng/mL and 30 ng/mL). The mean age of the population was 56 ± 16 years, most patients were female (83%), 72% had hypertension, 88% dyslipidemia, 46% DM, 98% central obesity, and 82% metabolic syndrome. Serum vitamin D levels were < 30 ng/mL in 78% of the patients, and < 20 ng/mL in 35%. The mean vitamin D level was 24.3 ± 6.8 ng/mL. The comparison between the clinical, biochemical and histological characteristics of the patients according to the levels of vitamin D showed no significant difference. Most patients with NAFLD had hypovitaminosis D, but low vitamin D levels were not related to disease severity and the presence of comorbidities.


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