Bone Abstracts

Background: Hypophosphataemic rickets has been reported in patients on long term sodium valproate. This is usually due to proximal renal tubulopathy (RT). Distal RT or renal stones have not previously been reported.Presenting problem: We report the case of a 6 year old female with complex background (severe global developmental delay, epilepsy, PEG fed), on long term sodium valproate, who developed chronic hypophosphatemia and sustained a low impact femo...

Leptin and adiponectin have an opposing relationship in circulation; leptin is higher and adiponectin lower in overweight/obese individuals, and vice versa. Studies showed that both leptin and adiponectin can be either beneficial or harmful to bone depending on the mode of action. The objective was to investigate the association of serum leptin:adiponectin ratio (L:A) with BMD of various skeletal sites and markers of bone turnover in overweight and obese postmenopausa...

Introduction: The purpose of this study was to evaluate whether daily treatment with 400 IU vitamin D3 was sufficient to maintain 25-hydroxyvitamin D (25(OH)D) concentrations above 60 nmol/l over a 3-year period. In addition, the study aimed to clarify if any differences existed in serum 25(OH)D between pre-supplemented women and women who already had serum 25(OH)D above 60 nmol/l at screening.Methods: Serum samples drawn from 251 postmenopaus...

This paper reviews clinical reports of vitamin D deficiency rickets in neonates from 1930 onwards. In 24 reports there was good evidence of maternal deficiency. In some the diagnosis of the rickets led to the identification of symptomatic osteomalacia in the mothers; several had been severe and longstanding. Of the 15 mothers who had assays for serum 25-hydroxyvitamin D (25OHD) 13 had values <25 nmol/l (10 ng/ml) and 10 had values <12.5 nmol/l (5 ng/ml).<p class="a...

Background: A 9-month-old boy was diagnosed with rickets at the age of 6 months. He was born at term in India, following a normal pregnancy. Mother had taken folic acid and calcium, but not vitamin D, as this is the policy for pregnancy vitamins in Kerala.Presenting problems: At 6 months of age he was seen for routine vaccination. The paediatrician noted a prominent forehead and swollen wrists. Wrist x-ray was said to show early rickets. Blood tests show...

Background: Despite the large amount of studies published on the association of vitamin D deficiency with higher incidence of falls and fractures, the threshold for a sufficient serum 25(OH)D concentration remains subject to a considerable debate. There has also been no clear consensus on the assessment and treatment of vitamin D deficiency.Objective: To examine the prevalence of vitamin D deficiency and/or insufficiency and its impact on calcium/phospha...

Background: Despite the large amount of studies published on the association of vitamin D deficiency with higher incidence of falls and fractures, the threshold for a sufficient serum 25(OH)D concentration remains subject to a considerable debate. There has also been no clear consensus on the assessment and treatment of vitamin D deficiency.Objective: To examine the prevalence of vitamin D deficiency and/or insufficiency and its impact on calcium/phospha...

Background: Hypercalcemia in childhood is rare, can be of various origin and might go unrecognized until severe signs appear. We demonstrate hypercalcemia of different causes in two infants.Case no 1.: 5-month old girl with failure to thrive, constipation, muscle hypotonia, dehydration, where total calcaemia peaked to 4.25 mmol/l. Low calcium diet, application of glucocorticoids and furosemide resulted in a drop in calcaemia to values below 3 mmol/l and ...

Background: 1α-hydroxylase is a mitochondrial P450 enzyme critical to the synthesis of active calcitriol from the pro-hormone 25(OH) D. Multiple different mutations in the CYP27B1 gene have been identified that abolish or reduce 1α-hydroxylase enzymatic activity resulting in vitamin D dependent rickets type 1. Children with 1α-hydroxylase deficiency present with a clinical picture of joint pain and deformity, hypotonia, muscle weakness, growth failure and someti...

Objectives: To assess the effects of short-term vitamin D supplementation on bone metabolism, glycaemic status and immune function in vitamin D deficient children.Method: Treatment with daily 5000 IU cholecalciferol supplementation for 6 weeks. At baseline and end of treatment serum 25 hydroxyvitamin D (25(OH)D), parathyroid hormone (PTH), alkaline phosphatase (ALP), serum collagen type 1 cross-linked C-telopeptide (CTX), serum calcium, HbA1c, sex hormon...