X-linked hypophosphataemia (XLH) is due to mutations in phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) and represents the most common heritable form of rickets. In this condition, the hormone fibroblast growth factor 23 (FGF23) is produced in excessive amounts for still unknown reasons, and causes renal phosphate wasting and suppression of 1,25-dihydroxyvitamin D, leading to low serum phosphate concentrations. Prolonged hypophosphataemia decreases apoptosis of hypertrophic chondrocytes in growth plates (causing rickets) and decreases mineralisation of existing bone (causing osteomalacia). In contrast to historical conventional treatment with oral phosphate supplements and active vitamin D for the last 50 years, the new anti-FGF23 antibody treatment (burosumab) targets the primary pathology by blocking FGF23, thereby restoring phosphate homeostasis. In this review, we describe the changes in treatment monitoring, treatment targets and long-term treatment goals, including future opportunities and challenges in the treatment of XLH in children.

Summary:Total serum cholesterol and triglycerides were measured in 159 Indian patients (134 males) with acute myocardial infarction during their stay in hospital (days 1 and 2) and 3 months later in order to assess whether lipid levels measured soon after acute myocardial infarction represent basal values. Early and 3 month lipid levels were also compared according to the sex and glucose tolerance of the patients.The mean total cholesterol levels on admission (day 1) were comparable to the 3 month values in both men (6.09 + 0.10 vs 6.18 + 0.09 mmol/l) and women (6.75 ± 0.30 vs 6.44 + 0.22 mmol/l) irrespective of glucose tolerance. In the entire group cholesterol levels on day 2 were significantly lower than the admission and 3 month values. Nevertheless there was a significant correlation between day 2 and 3 month values (P< 0.0005). Serum triglyceride levels on day 2 were influenced by glucose tolerance and were significantly lower than the 3 month values in patients with normal glucose tolerance but not in patients with abnormal glucose tolerance. However there was a significant correlation between day 2 triglyceride values in patients with both normal and abnormal glucose tolerance.These results suggest that serum cholesterol measured on admission after acute myocardial infarction may be reliably used to represent basal values in both men and women irrespective of glucose tolerance. Although cholesterol and triglycerides measured on day 2 vary with either the gender or glucose tolerance of the patients, these values are still a useful guide to the patients' basal lipid state.

Hypocalcaemia is a common clinical scenario in children with a range of aetiological causes. It will often present with common symptoms but may occasionally be identified in an asymptomatic child. An understanding of the physiological regulation of plasma calcium is important in understanding the potential cause of hypocalcaemia and its appropriate management. The age of presentation will influence the likely differential diagnosis. We have presented a stepwise approach to the investigation of hypocalcaemia dependent on the circulating serum parathyroid hormone level at the time of presentation. The acute and long-term management of the underlying condition is also reviewed.

Aims:To assess growth and factors associated with growth in children born small for gestational age (SGA) from two socioeconomic strata in comparison to age- and sex-matched healthy controls.Methods:Retrospective study conducted at two hospitals in Pune, 0.5–5 years, 618 children: 189-SGA from upper socioeconomic strata (USS), 217-SGA from lower socioeconomic strata (LSS), and 212 appropriate for gestational age healthy controls were randomly selected. Birth and maternal history, socioeconomic status, length/height, and weight of children were recorded. Anthropometric data were converted to Z scores (height for age Z-score [HAZ], weight for age Z-score [WAZ]) using WHO AnthroPlus software.Results:The HAZ and WAZ of the SGA group were significantly lower as compared to the controls and that of the LSS SGAs were lower than USS SGAs (P < 0.05). Thirty two percent children were stunted (HAZ <−2.0) in USS and 49% in LSS (P < 0.05). Twenty nine percent children in the USS SGA group were stunted at 2 years and 17% at 5 years. In the LSS SGA group, 54% children were stunted at 2 years and 46% at 5 years. Generalized linear model revealed normal vaginal delivery (β = 0.625) and mother's age (β =0.072) were positively associated and high SES (β = −0.830), absence of major illness (β = −1.01), higher birth weight (β = −1.34) were negatively associated for risk of stunting (P < 0.05).Conclusion:Children born SGA showed poor growth as compared to controls. Special attention to growth is necessary in children from LSS, very low birth weight babies, and those with major illnesses during early years of life.