Suma Uday

Prevention of rickets and osteomalacia in the UK: political action overdue

The consequences of vitamin D and dietary calcium deficiency have become a huge public health concern in the UK. The burden of disease from these deficiencies includes rickets, and hypocalcaemic seizures, dilated cardiomyopathy and mostly occult myopathy and osteomalacia. The increasing burden of the disease is intrinsically linked to ethnicity and the population demographic changes in the UK. Three facts have led to the resurfacing of the English disease: (1) the UK has no ultraviolet sunlight for at least 6 months of the year, (2) dark skin produces far less vitamin D than white skin per unit ultraviolet light exposure, and (3) non-European Union immigration over the last century. To date, the UK government demonstrates incomplete understanding of these three facts, and its failure to adjust its prevention programmes to changing demographics is endangering the health and life of UK residents with dark skin, of whom infants are the most vulnerable. Establishing accountability through the implementation of monitored antenatal and infantile supplementation programmes and mandatory food fortification is overdue.

Hypopituitarism in children with cerebral palsy

Poor growth and delayed puberty in children with cerebral palsy is frequently felt to be related to malnutrition. Although growth hormone deficiency is commonly described in these children, multiple pituitary hormone deficiency (MPHD) has not been previously reported. We present a series of four children with cerebral palsy who were born before 29 weeks gestation who were referred to the regional endocrinology service, three for delayed puberty and one for short stature, in whom investigations identified MPHD. All patients had a height well below −2 standard deviation score (2nd centile) at presentation and three who had MRI scans had an ectopic posterior pituitary gland. We therefore recommend that the possibility of MPHD should be considered in all children with cerebral palsy and poor growth or delayed puberty. Early diagnosis and treatment is essential to maximise growth and prevent associated morbidity and mortality.

Ethnic variation in the correlation between waist to height ratio and total daily insulin requirement in children with type 1 diabetes: a cross‐sectional study

Total daily insulin required to achieve glycaemic control in type 1 diabetes (T1D) depends on numerous factors. Correlation of insulin requirement to body mass index and waist circumference has been variably reported in the literature and that of waist‐to‐height ratio has not been studied.

Comparison of the response to bisphosphonate treatment between acute lymphoblastic leukaemia and osteogenesis imperfecta type I

Genant et al, Verebral fracture assessment using a semiquantitative technique. LSBMAD improvement in ALL is comparable to that in children with type I OI. Symptomatic improvement and vertebral remodelling variable Osteoporosis in children with osteogenesis imperfecta type 1 (OI) and acute lymphoblastic Leukaemia (ALL) is characterised by high bone turnover. However the ability of spontaneous healing and reshaping of bone is retained in ALL even in the absence of bisphosphonate (BP) therapy, but impaired in OI. Background

Monogenic diabetes and type 1 diabetes mellitus: a challenging combination

The co-existence of maturity onset diabetes of the young (MODY) due to a glucokinase gene (GCK) mutation and type 1 diabetes mellitus (T1DM) is rarely diagnosed. We present a family with GCK mutation, where one member also has T1DM. We highlight the challenges faced in the management of a child with dual diagnosis, due to the higher threshold for activation of counter-regulatory hormones in GCK mutations. Fluctuations in blood glucose (BG) levels and significant hypoglycaemia on attempts at normalising BG levels complicate management in these patients. Resetting the threshold for hypoglycaemia and target BG, combined with insulin pump therapy, enabled us to significantly reduce hypoglycaemia and improve quality of life. The population prevalence of GCK-MODY is 1.1 in 1000. T1DM neither predisposes to nor protects from GCK-MODY; one would therefore expect the prevalence of GCK-MODY to be the same in T1DM patients. In conclusion, it is important to recognise the co-existence of T1DM and GCK-MODY as symptoms of hypoglycaemia at BG levels usually considered ‘within target’ pose management challenges. A combined diagnosis warrants careful consideration of BG target. Copyright

Rickets and Osteomalacia

Defective mineralization of the skeleton results in rickets (affecting growth plates) and osteomalacia (affecting established bone). Effective mineralization requires adequate supply of minerals (calcium and phosphate), the hormone calcitriol which controls intestinal mineral absorption (calcitriol synthesized from vitamin D), and enzymes that aid mineralization (alkaline phosphatase). A lack in any of the above can lead to rickets and osteomalacia. The underlying pathology in all forms of rickets is low phosphorus availability to hypertrophic growth plate chondrocytes and osteoblasts irrespective of the cause (calcipaenia, phosphopaenia and hypophosphatasia).

G474(P) Review of glycaemic control, complications and outcome following transfer to adult services in adolescents and young adults with childhood onset type 1 diabetes mellitus

Aims To review glycaemic control and rate of microvascular complications in adolescents and young adults with childhood onset type 1 diabetes and to investigate glycaemic control before and after transfer to adult services. Methods All patients aged 17 to 23 years with childhood onset type 1 diabetes at a single tertiary centre were included. Patients were identified using our clinic database. Details of treatment control and complications were obtained from the database. Results A total of 104 (male=55) patients with a median age of 19.2 (17.15 to 23.0) years were identified with mean (±SD) duration of diabetes of 9.7 (±4.4) years. Treatment consisted of multiple daily injections in 66.3%, pump therapy in 27.9% and twice daily insulin regimen in 5.8%. Mean HbA1c was 77.3 ± 17.9 mmol/mol, comparable to results seen in similar studies. Hypothyroidism and coeliac disease was detected in 6.7% and 3.8%, respectively. Microalbuminuria was noted in 8.6% and retinopathy in 43.2%, with one patient requiring laser therapy. Mean LDL was 2.3 ± 0.67 mmol/l with one patient on statin therapy. The mean systolic and diastolic blood pressures were 122 ± 11 and 71.4 ± 8.9 mmHg, respectively. The mean age of transfer to adult services was 18.5 ± 1.2 years. Mean HbA1c in the year before transfer was 77.8 ± 18.1 mmol/mol with similar levels one year post transfer at 78.3 ± 18.3 mmol/mol. Only 12.5% of individuals achieved target HbA1c of <58 mmol/mol. There was a reduction in average number of clinics attended post transfer (3.2 Vs 2.4 in one calendar year) with three patients lost to follow up after transfer. Hospital admissions halved post transfer from 6 admissions over 3 years before transfer to 3 admissions after transfer. Conclusions Diabetes control in adolescent and young adults with type 1 diabetes is inadequate and is not affected by transfer to adult services, despite a reduction in the number of clinic attendance. The rate of microvascular complications in this group is relatively high, although advanced complications were evident only in a minority. Future work is needed to improve glycaemic control in young people with diabetes to encourage engagement and develop new strategies for self management.