Objectives: To determine the prevalence of clinical and biochemical rickets in an under-five out-patient population, relate the prevalence of biochemical rickets (BR) to the sociocultural characteristics of families and determine the response of nutritional rickets to vitamin D therapy.
Design: Prospective cross-sectional and retrospective case-series surveys.
Setting: Paediatric general out-patient and consultant clinics.
Subjects: One hundred and ninety eight out-patients and twenty two patients aged >1 to 60 months treated for nutritional rickets.
Interventions: Clinical examination, interview with mothers and determination of biochemical abnormalities of under-fives and management of patients with rickets using stosstherapy.
Main Outcome Measures: Prevalence of BR and response to stosstherapy.
Results: Eight (4%) patients in the survey had clinical and biochemical rickets while 33 (17%) had biochemical rickets only; 92 (47%) other patients had isolated hypocalcaemia and/or hypophosphataemia. The prevalence of BR was higher in males (p <0.05), and increased with age (p <0.001). The prevalence was lower in families who were indigenous to the area (p <0.05), children of Moslem families (p <0.05) and children whose mothers were full-time housewives, unskilled or traders (p <0.01), and who lacked any formal western education (p = 0.157). Three of the seven evaluable patients who received stosstherapy responded late.
Conclusion: The results support the hypothesis that deficiency or reduced availability of dietary calcium may be of at least equal importance with vitamin D deficiency in the aetiology of nutritional rickets in the Sahel savanna.
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http://dx.doi.org/10.4314/eamj.v78i11.8945 | DOI Listing |
Indian J Orthop
February 2025
Department of Orthopaedics, JSS Medical College, Mysore, 570004 India.
Background: Rickets is a common metabolic bone disease in children, primarily caused by vitamin D deficiency. This study aimed to compare the efficacy of oral weekly vitamin D supplementation and injectable stoss therapy in treating nutritional rickets in Indian children.
Methods: This prospective, randomized, controlled trial was conducted over 18 months at a tertiary care center.
JBMR Plus
February 2025
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.
Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants in the X-chromosomal gene, but autosomal dominant and recessive forms also exist. We investigated a Finnish family in which the son (index, 29 yr) and mother (56 yr) had hypophosphatemia since childhood.
View Article and Find Full Text PDFNiger Med J
January 2025
Department of Obstetrics and Gynaecology, AIIMS, Bilaspur, Himachal Pradesh, India.
Autosomal hypophosphatemic rickets though a rare genetic disorder can lead to significant discomfort to the patient resulting in clinical deterioration and a poor quality of life. We describe a case of a 33-year-old woman G2P1001 at 6 weeks of gestation with complaints of myalgia and bony pains. Keeping her history of bony pains and fractures in mind, she was further evaluated.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Endocrinology Department, School of Medicine, Pontificia Universidad Católica de Chile, Av. Diagonal Paraguay 262, Cuarto Piso, Santiago, Chile.
X-linked hypophosphatemia (XLH) is a rare metabolic disorder characterized by elevated FGF23 and chronic hypophosphatemia, leading to impaired skeletal mineralization and enthesopathies that are associated with pain, stiffness, and diminished quality of life. The natural history of enthesopathies in XLH remains poorly defined, partly due to absence of a sensitive quantitative tool for assessment and monitoring. This study investigates the utility of 18F-NaF PET/CT scans in characterizing enthesopathies in XLH subjects.
View Article and Find Full Text PDFBest Pract Res Clin Endocrinol Metab
January 2025
Department of Endocrinology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, India. Electronic address:
Adolescent primary hyperparathyroidism (PHPT) is a rare endocrine disorder bearing distinctions from the adult form. This review examines its unique aspects, focusing on clinical presentation, genetic etiologies, genotype-phenotype correlations, and therapeutic management. Adolescent PHPT often has a genetic basis, whether familial, syndromic, or apparently sporadic, and identifying the underlying genetic cause is important for patient care.
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