Longitudinal assessment of bone quality in pediatric patients with chronic kidney disease in relation to treatment modality.

Children with chronic kidney disease (CKD) are at high risk of developing impaired bone quality. Our aim was to investigate changes of bone quality in children with CKD in relation to their treatmant using two imaging techniques-dual energy X-ray absorptiometry and quantitative ultraSonography (QUS). Thirty-three patients with CKD (18 boys and 15 girls, mean age 10.37 ± 3.37 years) were evaluated with bone mineral density (BMD) measured by DXA at the lumbar spine and hip and with speed of sound (SOS) measured by QUS at the radius and tibia at the beginning and at the end of the study. The patient cohort consisted of 14 patients with CKD stage 3-4 not treated with dialysis (CKD group), 5 patients on peritoneal dialysis treatment (PD group) and 14 patients after kidney transplantation (RTx group). BMD measurements did not show any significant changes in CKD and PD patients during the study. There was a reduction in BMD measured at the lumbar spine, femoral neck and total hip in RTx patients that was approaching significance. During the 2-year follow-up, SOS measurements at the radius decreased significantly in PD patients, whereas SOS measurements at the tibia significantly improved in RTx patients. No significant changes in QUS parameters were recorded for patients in the CKD group. In conclusion, our study shows that QUS parameters seem to better reflect the state of hyperparathyroidism of renal osteodystrophy as they deteriorate significantly in patients on dialysis and improve after renal transplantation.

A two-yr prospective study of bone health in children after renal transplantation employing two imaging techniques.

The aim of this study was to prospectively and longitudinally evaluate bone properties with the use of two bone imaging techniques (dual energy X-ray absorptiometry [DXA], and quantitative ultraSonography [QUS]) in pediatric renal transplant recipients. Fourteen patients (eight boys and six girls) with a mean age of 12.25 ± 3.11 yr (range: 8-17.5 yr) completed a two-yr follow-up. Measurements of bone mineral density (BMD) by DXA at lumbar spine and hip and speed of sound (SOS) by QUS at radius and tibia were performed at the beginning and at the end of the study. A significant improvement in mean Z-score of SOS values measured at tibia (1.01 ± 1.31 vs. -0.46 ± 1.14, p = 0.005) was observed. On the contrary, mean Z-score of BMD values measured at femoral neck was significantly reduced (-1.95 ± 2.15 vs. -0.33 ± 1.13, p = 0.041). Finally, multivariate stepwise regression analyses showed that glomerular filtration rate at the beginning of the study was the best predictor of the difference in BMD Z-scores measured at lumbar spine. Additionally, values of intact parathormone (iPTH) at the beginning of the study and the change in iPTH throughout the study predicted the 72.3% of the difference in Z-score of SOS measured at radius with an inverse relationship.

Is there any association between leptin levels and bone mineral density in haemophiliac men?

INTRODUCTION: Conflicting data exist regarding the role of leptin in bone metabolism. The purpose of the present study was to investigate serum leptin concentrations in male patients with haemophilia A and B, a disease known to be associated with low bone mass. MATERIAL AND METHODS: Eighty-one male patients, aged 45.4 ±15 years, were screened. Bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry (DXA) in lumbar spine (LS), femoral neck (FN) and total hip (TH). RESULTS: Low bone mass was diagnosed in 20 patients (24.7%). Serum leptin concentrations were strongly associated with body weight (r s = 0.457, p = 0.0001) and body mass index (BMI) (r s = 0.491, p = 0.0001). In unadjusted analysis leptin was inversely associated with BMD in LS (r s = -0.255, p = 0.023), but not in FN and TH (r s = -0.205, p = 0.068 and r s = -0.191, p = 0.090, respectively). However, after adjusting for BMI and body weight, leptin was inversely associated with BMD in FN (F 1,76 = 7.727, p = 0.007, ß = -0.371, ΔR (2) = 0.089) and TH (F 1,76 = 4.533, p = 0.036, ß = -0.290, ΔR (2) = 0.054), but not in LS (F 1,75 = 2.076, p = 0.154, ß = -0.202, ΔR (2) = 0.026). No association was found between age, presence of HBV, HCV or HIV infection or alkaline phosphatase and leptin levels. CONCLUSIONS: Our study showed a negative association between circulating leptin levels and bone mass in males, independently of body weight and BMI.

Reduced bone mineral density in patients with haemophilia A and B in Northern Greece.

Haemophilia A and B has been associated with increased prevalence of low bone mass (67-86%). The aim of this study was to estimate the prevalence of bone disease in haemophiliacs and its association with potential risk factors. Adult patients with haemophilia A and B followed-up in the Haemophilia Centre of Northern Greece were included. Bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry (DXA) in lumbar spine (LS), femoral neck (FN), total hip (TH) and great trochanter (GT). One-hundred four male patients (aged 45.8 ± 15.1 years) and 50 controls (aged 44.9 ± 12.8 years) were screened. Low BMD was diagnosed in 28 patients (26.9%) and 10 controls (20%) (p=0.0001). Patients had lower BMD in TH (p=0.007), FN (p=0.029) and GT (p=0.008) than controls, without differences in LS. BMD was positively associated with the severity of haemophilia, history of herpes virus C or human immunodeficiency virus and level of physical activity, and negatively with the level of arthropathy. In multiple-regression analysis, only the level of physical activity and 25-hydroxyvitamin D [25(OH)D] significantly predicted BMD. Half of the patients had vitamin D deficiency. In conclusion, our study showed increased prevalence of low BMD in haemophiliacs. The levels of physical activity and 25(OH)D independently predicted low BMD.

Comparative study of quantitative ultrasonography and dual-energy X-ray absorptiometry for evaluating renal osteodystrophy in children with chronic kidney disease.

Our aim was to assess bone parameters in children with chronic kidney disease (CKD) with both dual-energy X-ray absorptiometry (DXA) and quantitative ultrasonography (QUS) and additionally with biochemical markers of bone turnover. Twenty children (12 boys and 8 girls) with CKD and a mean decimal age of 9.47 ± 4.44 years were included in the study where anthropometric parameters (height and weight), pubertal status, bone mineral density (BMD) at lumbar spine, speed of sound (SOS) measured by QUS at radius and at tibia, and biochemical markers of bone metabolism were measured. Six patients (30%) had tibial SOS Z score <-1, and 52.7% had radial SOS Z score <-1, whereas only 16.67% had BMD Z score <-1. Patients had significantly increased levels of serum intact parathormone (p < 0.001), serum bone alkaline phosphatase (BAP) (p < 0.001) and serum N-terminal-mid fragment (aminoacids 1-43) of osteocalcin (p < 0.001) compared to controls, whereas serum osteoprotegerin was significantly decreased in patients compared to controls (p = 0.001). SOS was significantly correlated to BAP (r = -0.586, p = 0.013 and r = -0.709, p = 0.001, respectively, for radius and tibia). In conclusion no association between DXA and QUS measurements was documented in our study, whereas QUS was better correlated to biochemical indices of ROD.

Bone status of children with hemophilia A assessed with quantitative ultrasound sonography (QUS) and dual energy X-ray absorptiometry (DXA).

Recent studies report reduced bone mineral density (BMD) even among young adults and children with hemophilia. Our aim was to assess bone status in children and adolescents with hemophilia with 2 methods: Quantitative UltraSonography (QUS) and Dual energy x-ray Absorptiometry (DXA), and consequently to investigate the degree of correlation between them. Twenty-seven patients (17 with severe hemophilia; residual factor activity <1% and 10 with moderate hemophilia) participated in the study. Mean age was 12.28±4.48 y (range: 4.94 to 18.00 y). All patients were evaluated with QUS at radius and at tibia and had DXA scan at lumbar spine. Anthropometric parameters were measured using standard techniques and joint evaluation was carried out using the Hemophilia Joint Health Score (HJHS). Only 2 out of 27 patients (7.5%) had BMD Z-scores <-2, whereas another 4 patients (15%) had BMD Z-scores between -1 and -2. QUS values in both radius and tibia were generally within the normal limits as only 1 patient had radius and another 1 had tibia QUS Z-score <-2. HJH scores were significantly although negatively correlated to Z-scores of tibia QUS (r=-0.455, P=0.034). No correlations were observed between lumbar BMD and radius or tibia QUS and no agreement was recorded between QUS and DXA in identifying patients at risk for osteoporosis (k=0.262). In conclusion, our study showed that only a small number of children and young adults with hemophilia have impaired bone properties as assessed both by DXA and QUS; no correlation was observed between these 2 methods.

Eosinophilic enteritis with ascites in a patient with overlap syndrome.

Gastrointestinal involvement is frequent in patients with systemic lupus erythematosus (SLE). Eosinophilic gastroenteritis, however, has only rarely been described in rheumatological conditions, despite its reported connection to autoimmune diseases, such as hypereosinophilic syndrome, vasculitides, and systemic mastoidosis. It presents typically with abdominal pain and diarrhea and is only exceptionally associated with ascites. Diagnosis can be problematic, as several other clinical conditions (malignancies, infection/tuberculosis, and inflammatory bowel diseases) have to be ruled out. It is basically a nonsurgical disease, with excellent recovery on conservative treatment. We report the rare case of a young woman with overlap syndrome who presented with abdominal pain and ascites. The diagnosis of eosinophilic enteritis was made based on clinical, radiological, and laboratory criteria. The patient was treated with corticosteroids with excellent response.

Poor correlations between measurements of bone quality by quantitative ultrasound sonography and dual energy X-ray absorptiometry in patients with beta-thalassaemia major.

OBJECTIVES: Osteopenia/osteoporosis is a major component of morbidity even in young patients with beta-thalassaemia major. Dual energy X-ray absorptiometry (DXA) is the reference method for determining bone mineral density (BMD). Quantitative ultrasound sonography (QUS) for bone measurement is a relatively new, inexpensive and radiation-free method that could serve as an alternative to DXA. Our aim was to assess bone status in thalassaemic patients both with QUS and DXA and, consequently, to investigate the degree of correlation between the two methods. METHODS: Thirty-three patients (15 male and 18 female) with beta-thalassaemia major, regularly transfused and systematically iron-chelated, participated in the study. Mean age was 22.0 +/- 8.0 yr (range: 6.5-41.0 yr). All patients were evaluated with QUS at radius and tibia and had DXA scan at lumbar spine vertebrae (L2-L4), whereas 20 patients were additionally assessed with DXA at the left hip (femoral neck, trochanter region and Ward's triangle). RESULTS: Results were expressed as Z-scores compared with sex- and age-matched population. Lowest mean Z-scores measured with DXA were recorded at lumbar spine and Ward's triangle (-1.1 +/- 1.13 and -0.95 +/- 1.07, respectively). Lowest mean QUS-derived Z-scores were measured at radius, statistically significant compared with Z-scores measured at tibia (-0.6 +/- 1.1 vs. 0.4 +/- 1.1, P < 0.001). QUS measurements at radius were significantly correlated to QUS measurements at tibia (r = 0.51, P = 0.002). The latter were correlated to BMD measured at lumbar spine (r = 0.516, P = 0.002) and at trochanter region (r = 0.646, P = 0.003). All BMD measurements at hip were significantly correlated to each other. Lumbar spine BMD was correlated to BMD at femoral neck (r = 0.607, P = 0.003) and to BMD at Ward's triangle (r = 0.438, P = 0.027). Finally, no agreement was recorded between the two methods in identifying thalassaemic patients at risk for osteoporosis (kappa = 0.203, P = 0.04). CONCLUSION: Quantitative ultrasound sonography could not serve as an alternate to DXA.

Normal lumbar bone mineral density in optimally treated children and young adolescents with beta-thalassaemia major.

OBJECTIVE: Osteopenia/osteoporosis of multi-factorial pathogenetic mechanism is reported to be a significant cause of morbidity in adult patients with beta-thalassaemia major. Even in young patients, decreased Bone Mineral Density (BMD) values are a consistent finding in the literature. This study was performed in order to assess BMD in children and young adults with beta-thalassaemia major, regularly transfused and sufficiently chelated, along with auxological, clinical and laboratory parameters. DESIGN: Thirty-five young thalassaemic patients (19 F, 16 M, aged 5-20 yr) were studied. Lumbar BMD was assessed by dual X-ray absorptiometry (DXA) and Z-scores were calculated according to bone density values using age- and sex-matched normal population. None of the patients presented with clinical or laboratory signs of endocrinopathy and none was receiving hormonal replacement therapy. RESULTS: All BMD Z-scores were within normal range, with a mean Z-score of 0.42 for girls and -0.41 for boys (statistically significant gender difference, p=0.018). When correlated with age, a decline in Z-scores was observed, indicating a delay in bone mass acquisition with advancing age in the thalassaemic group compared to controls. CONCLUSIONS: Optimal conventional treatment prevents the manifestation of osteopenia/osteoporosis during the first two decades of life in patients with beta-thalassaemia major. However, close surveillance with regular screening, preventive intervention and early management of possible endocrine complications are essential in order to secure normal bone health during adulthood and improve quality of life in the thalassaemic population.

Small-duct primary sclerosing cholangitis. A single-center seven-year experience.

Patients with cholestatic liver function tests and histological features of primary sclerosing cholangitis (PSC) but without the typical cholangiographic changes are considered to have small-duct PSC. The incidence of small-duct PSC and the natural history still is not known. We performed a retrospective search for patients diagnosed with small-duct PSC between January 1997 and December 2003. The diagnosis of small-duct PSC was based on biochemical features of chronic cholestasis, liver biopsy findings consistent with PSC, and a normal cholangiogram on endoscopic retrograde cholangiography. Six patients fulfilled the diagnostic criteria for small-duct PSC. All patients received medical therapy. After a mean follow-up time of 26.0 +/- 29.8 months (range, 7-84 months), all patients are alive. Repeated liver biopsy was performed in one patient, 58 months after the initial one, and disclosed amelioration of histological findings (reduction in the Ludwig fibrosis score from 4 to 2). During follow-up symptoms disappeared in all patients who were symptomatic at diagnosis; none of those who were asymptomatic at diagnosis developed symptoms. At the time of last follow-up all patients showed significant improvement of their biochemical variables compared to baseline. Administration of aminosalicylates seemed to be of benefit irrespective of the presence of inflammatory bowel disease. No patients underwent liver transplantation or developed cholangiocarcinoma. Even though our study included a low number of patients and the follow-up time was relatively short, we can suggest that small-duct PSC rarely progresses to large-duct PSC and does not seem to be associated with development of cholangiocarcinoma. It thus seems to represent a separate entity with a favorable prognosis.