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Summary: X-linked hypophosphatemic rickets (XLH), the most prevalent form of inherited hypophosphatemic rickets, is caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog, X-linked (PHEX). This case series presents 14 cases of XLH from Gulf Cooperation Council (GCC) countries. The patients' medical history, biochemical and radiological investigative findings, as well as treatment responses and side effects from both conventional and burosumab therapy, are described. Cases were aged 2-40 years at diagnosis. There were two male cases and 12 female cases. All cases were treated with conventional therapy which resulted in a lack of improvement in or worsening of the clinical signs and symptoms of rickets or biochemical parameters. Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients' quality of life and adherence to treatment. In the 10 patients treated with burosumab, there was a marked improvement in the biochemical markers of rickets, with a mean increase in serum phosphate of +0.56 mmol/L and tubular maximum phosphate reabsorption (TmP) to glomerular filtration rate (GFR) ratio (TmP/GFR) of +0.39 mmol/L at 12 months compared to baseline. Furthermore, a mean decrease in serum alkaline phosphatase (ALP) of -80.80 IU/L and parathyroid hormone (PTH) of -63.61 pmol/L at 12 months compared to baseline was observed in these patients. Additionally, patients treated with burosumab reported reduced pain, muscle weakness, and fatigue as well as the ability to lead more physically active lives with no significant side effects of treatment. Learning points: Conventional therapy resulted in a suboptimal response, with a lack of improvement of clinical signs and symptoms. Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients' quality of life and adherence to treatment. Burosumab demonstrated marked improvements in the biochemical markers of rickets, in addition to reducing pain, muscle weakness, and fatigue. There were no significant side effects associated with burosumab therapy.
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Objective: Puberty has a significant contribution to the final height. Therefore, it is crucial to understand the normal variations in the onset and tempo of puberty in a specific population. In this study, we aimed to provide normative data on the timing of puberty and late pubertal height (LPH) in Saudi schoolboys in Riyadh. Methods: This is a cross-sectional field study (2011-2013) including Saudi schoolboys (grades 1-12; aged 6 to 19 years). Schools were chosen to represent the population from urban and rural areas in the Riyadh region. Pubertal maturity staging for gonads was assessed by measuring testicular size using a Prader orchidometer and assessing the Tanner staging of pubic hair. The marginal mean age was calculated using regression analysis. Results: We recruited 1086 schoolboys. The estimated mean age of pubertal onset at G2 was 11.8 (95% CI 11.60-12.0) years, for gonadal development at G3 was 13.2 (95% CI 12.9-13.5), G4 = 15.0 (95% CI 14.7-15.2), and G5 = 16.1 (95% CI 15.9-16.3) years, and for pubic hair stage 2 (PH2) was 12.6 (95% CI 12.4-12.9) years. The estimated time from G2/PH2 to G5/PH5 was 4.3 and 3.9 years, respectively. At the onset of puberty, the mean height was 144.7 cm and it reached 167.8 cm at G5 with a pubertal height gain of 23.1 cm. Conclusion: Our data present the norms of the timing of puberty and LPH in Saudi schoolboys. Saudi adolescent males are shorter than some European and American comparatives mainly due to shortness during childhood. However, they could have shorter LPH than Turkish, Greek, Thai, and Japanese due to a less pubertal height gain.
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BACKGROUND: Children with type 1 diabetes (T1D) at different stages of development have age-specific needs, which can influence their perception of quality of life (QoL). In our study, we aimed to emphasize these age-specific needs and assess the perception of QoL in Saudi children with T1D, as well as their parents correlating QoL scores with children's glycemic control. METHODS: This is a cross-sectional study in which children with T1D and their parents from 2 tertiary institutes in Saudi Arabia have answered a standard diabetes-specific QoL questionnaire (PedsQL™ 3.0 diabetes module, translated in Arabic). We also reported glycated hemoglobin (HbA1c) results for these children within a month of completing the questionnaire. The QoL total aggregate and domain scores for self (children) and proxy (parents') reports were compared and correlated with children's HbA1c. RESULTS: A sample was 288 self and proxy reports from 144 children with T1D of 3 age groups: 5 to 7 years (7%), 8 to 12 years (49%), and 13 to 18 years (44%), and their parents. QoL differed significantly between self and proxy reports in the total aggregate and domain scores (P-values range from .02 to <.001). The impact on QoL was significantly higher in female patients (P = .043). Insulin pump users had better HbA1c (P = .007), and HbA1c level was worse in those who intended to fast at Ramadan (P = .005). CONCLUSION: Children with T1D at different developmental age groups perceive QoL differently than their parents. Adjusting management as per age-specific challenges could potentially improve these children's QoL and glycemic control.
ABSTRACT
Our research shows that the newborns of vitamin D-deficient mothers have higher serum alkaline phosphatase (ALP) activity compared with those of vitamin D-non-deficient mothers, which is likely related to increased bone turnover rather than just being a marker for bone formation. This has a potential negative impact on fetal bone development and subsequent skeletal growth. PURPOSE/INTRODUCTION: Low maternal serum 25-hydroxy vitamin D (25(OH)D) level during pregnancy contributes to vitamin D deficiency in infants at birth, which is associated with multiple potential adverse effects on fetal skeletal mineralization and growth. We studied the relationship between maternal 25(OH)D level and newborn serum alkaline phosphatase activity (ALP) at term. METHODS: In this prospective cross-sectional hospital-based study, venous blood samples of healthy pregnant mothers were drawn to measure 25(OH)D levels within 6 h of delivery. Cord blood samples were examined for calcium, phosphorus levels, and ALP activity immediately after birth. In addition, we also recorded the newborns' anthropometric measurements. RESULTS: Seventy-two percent (n = 108/150) of mothers in our study were vitamin D-deficient (serum 25(OH)2D < 25 nmol/l). In a multivariate logistic regression model, young maternal age (odds ratio (OR) = 0.94, 95% CI 0.88-0.99, p = 0.04) and increased weight (OR = 1.03, 95% CI 1.01-1.07, p = 0.02) as well as decreased milk intake (OR = 0.31, 95% CI 0.13-0.74, p = 0.009) were all significantly associated with maternal vitamin D deficiency. ALP activity was significantly higher in newborns of vitamin D-deficient compared with vitamin D-non-deficient mothers (median = 176 (IQR = 139-221) and 156 (IQR = 132-182), respectively, p = 0.04). A significant inverse correlation (Pearson's coefficient = - 0.18, p = 0.03) was observed between maternal 25(OH)D levels and babies' ALP activities. This association persisted in a multivariate logistic regression model (OR = 3.46, 95% CI 1.18-10.18, p = 0.024). CONCLUSIONS: Our findings indicate that newborns of vitamin D-deficient mothers have higher serum ALP activity than those of non-deficient mothers, which might be related to increased bone turnover rather than just being a marker for bone formation. This could have a potential negative impact on fetal bone development and subsequent skeletal growth.
