Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.

Mendelian disorders of RANKL/OPG/RANK signaling feature the extremes of aberrant osteoclastogenesis and cause either osteopetrosis or rapid turnover skeletal disease. The patients with autosomal dominant accelerated bone remodeling have familial expansile osteolysis, early-onset Paget's disease of bone, expansile skeletal hyperphosphatasia, or panostotic expansile bone disease due to heterozygous 18-, 27-, 15-, and 12-bp insertional duplications, respectively, within exon 1 of TNFRSF11A that encodes the signal peptide of RANK. Juvenile Paget's disease (JPD), an autosomal recessive disorder, manifests extremely fast skeletal remodeling, and is usually caused by loss-of-function mutations within TNFRSF11B that encodes OPG.

Ocular manifestations of juvenile Paget disease.

Objectives: To determine the prevalence and spectrum of retinal changes in juvenile Paget disease.

Methods: Observational case series and literature review with analysis. Patients with clinical and molecular evidence of juvenile Paget disease were recruited by members of the International Hyperphosphatasia Collaborative Group.

[Treatment of osteogenesis imperfecta with bisphosphonates].

Treatment with bisphosphonates (BP) improves the quality of life of patients with osteogenesis imperfecta (OI). Beneficial effects are the relief of bone pain, a reduction of fracture incidence, improvement of corporal mobility and recovery of normal vertebral form. Treatment is less effective after completion of growth [corrected] An update of the literature is here presented.

[Severe osteoporosis with vertebral crushes in juvenile dermatomyositis. Effect of oral alendronate therapy].

Glucocorticoids are used for the treatment of inflammatory and autoimmune diseases, cancer, and in prevention of organ rejects. A frequent secondary effect of longterm treatment with corticoids is the loss of bone mass, caused by several mechanisms: decrease in the intestinal calcium absorption, increase of the renal calcium excretion at the distal renal tubule, suppressive effect on the osteoblast and also in apoptosis of osteoclasts, inhibition in local production of IGF I (Insulin-like growth factor) and IGFBPs (binding IGF I proteins necessary for bone metabolism), and decrease on osteocalcin production. Longterm treatment with corticoids is associated with osteoporosis and vertebral fractures.

Twice single doses of 100,000 IU of vitamin D in winter is adequate and safe for prevention of vitamin D deficiency in healthy children from Ushuaia, Tierra Del Fuego, Argentina.

In order to improve vitamin D status of children from Ushuaia (55 degrees S), at the South of Argentina, double supplementation with 100.000 IU of vitamin D was administered at the beginning of winter (March 2004), and 3 months later during winter (June 2004). In 2004, serum 25-hydroxyvitamin D (25OHD) was measured before the first supplementation, a month after, and 3 months after receiving the second supplementation (March, April and September).

[Evolution of children one year post liver transplant].

Orthotopic liver transplantation is the only definitive mode of therapy for children with end-stage liver disease. However, it remains challenging because of the necessity to prevent long-term complications. The aim of this study was to analyze the evolution of transplanted patients with more than one year of follow up.

Chronic idiopathic hyperphosphatasia: normalization of bone turnover with cyclical intravenous pamidronate therapy.

Chronic idiopathic hyperphosphatasia (CIH), or juvenile Paget disease, is a rare disorder characterized by increased bone turnover and progressive enlargement of bones. We report a girl, 6 1/2 years old, with a history of three fractures, short stature, delayed eruption of teeth, and poor hair growth. She had a waddling gait, bone deformities, kyphoscoliosis, hyperlordosis, genu valgum and curvature of her limbs.

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

Unlabelled: Homozygous mutations in TNFRSF11B, the gene encoding osteoprotegerin, were found in affected members from six of nine families with idiopathic hyperphosphatasia. The severity of the phenotype was related to the predicted effects of the mutations on osteoprotegerin function.

Introduction: Idiopathic hyperphosphatasia (IH) is a rare high bone turnover congenital bone disease in which affected children are normal at birth but develop progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and deafness.