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At least 145 records · Page 8Linked to original sources
PubMed1980

Serum 25-hydroxy-vitamin D levels in malnourished children with rickets.

Serum levels of calcium, phosphorus, alkaline phosphatase, and 25 hydroxy-vitamin D (25-OH-D3) were measured in normal and malnourished children with and without rickets. Children with rickets had clinical, biochemical, and x-ray evidence of the disease; most of them were malnourished. 25-OH-D3 levels were lower than in normal children. After treatment with vitamin D their condition improved. 25-OH-D3 levels were also found to be reduced in malnourished children without rickets. These studies show that rickets is common in malnourished children. Inadequate exposure to sunlight appears to be the factor mainly responsible for the high incidence of the disease. In addition, malnutrition perhaps contributes to the development of rickets.

Alkaline Phosphatase↗
PubMed1982

Plasma 25-hydroxyvitamin D and rickets in infants of extremely low birthweight.

Rickets is now a well-known entity in infants of very low birthweight. In a 1-year period (1981) 8 of 15 neonatal survivors whose birthweight was less than 1000 g (extremely low birthweight) developed rickets despite high supplementation with ergo-calciferol, 2000 units a day. At the time of radiological diagnosis their postnatal age was 8 (range 5-14) weeks, and they all had normal or high plasma concentrations of 25-hydroxyvitamin D (mean 80 nmol/l, range 40-160 nmol/l). Although 4 infants received alfacalcidol which healed the rickets, in 4 infants the rickets healed spontaneously without change in treatment. The results suggest that inadequate vitamin D supplementation is not the cause of rickets in such infants.

25-Hydroxyvitamin D 2↗
PubMed2001

Symptomatic rickets in adolescence.

AIM: To describe 21 cases of symptomatic rickets in adolescents. METHODS: The setting was a primary and secondary care hospital in Saudi Arabia providing medical care to Saudi Arab company employees and their families. Cases of symptomatic rickets diagnosed between January 1996 and December 1997 in adolescents aged 10 to 15 years were assessed with respect to clinical presentation, biochemical and radiological evaluation, dietary assessment, and estimation of sun exposure. RESULTS: Symptomatic rickets developed in 21 adolescents (20 females), with a prevalence rate of 68 per 100 000 children years. Presentation included carpopedal spasms (n = 12), diffuse limb pains (n = 6), lower limbs deformities (n = 2), and generalised weakness (n = 1). Biochemical findings included hypocalcaemia (n = 19), hypophosphoraemia (n = 9), raised serum alkaline phosphatase (n = 21) and parathormone (n = 7), and reduced 25-hydroxyvitamin D concentrations (n = 7). Radiological studies were suggestive of rickets in only eight children. All children had an inadequate dietary calcium and vitamin D intake. All but one had less than 60 minutes sun exposure per day. CONCLUSION: Even in sunny climates, adolescents, especially females, can be at risk of rickets. Hypocalcaemic tetany and limb pains were the most common presenting symptoms. Radiological evidence was not present in every case.

25-Hydroxyvitamin D 2↗
PubMed1985

Prevention of rickets in Asian children: assessment of the Glasgow campaign.

In March 1979 the Greater Glasgow Health Board launched a campaign to reduce the high prevalence of rickets in Asian children in the city. A precampaign survey had shown that voluntary low dose vitamin D supplementation would reduce the prevalence of rickets in Asian children. A survey carried out two and three years after the launch of the official campaign also showed a reduction in the prevalence of rickets in children taking low dose supplements equivalent to about 2.5 micrograms (100 IU) vitamin D daily. There was a considerable reduction in the total prevalence of rickets in this survey compared with the precampaign survey. Hospital discharges of Asian children with rickets declined rapidly after the start of the campaign.

Adolescent↗
PubMed2000

Pseudovitamin D deficiency rickets--a report from the Indian subcontinent.

Pseudovitamin D deficiency rickets (also called vitamin D dependent rickets type I) is one of the types of inherited rickets and is caused by a deficit in renal 25-hydroxyvitamin D 1alpha-hydroxylase. This form of rickets has not been reported from the Indian subcontinent. Three patients with this disorder are presented. These patients were all females aged 3-20 years and presented with growth failure and skeletal deformities. All had florid clinical and radiological rickets. The biochemical abnormalities seen included hypocalcaemia, hypophosphataemia, and hyperphosphatasia. All patients had grossly raised 25-hydroxyvitamin D concentrations and markedly low to undetectable concentrations of 1,25-dihydroxyvitamin D. A disturbing feature of this study was the late referral of the patients.

25-Hydroxyvitamin D 2↗
PubMed1967

Metabolism of vitamin D3-3H in vitamin D-resistant rickets and familial hypophosphatemia.

The fate of an intravenous dose of tritiated vitamin D(3) was studied in seven normal subjects, four children with vitamin D-resistant rickets, and four adults with a familial history of vitamin D-resistant rickets and persistent hypophosphatemia. An abnormal metabolism of vitamin D in vitamin D-resistant rickets was defined and characterized by a decrease in the plasma fractional turnover rate, a marked increase in plasma water-soluble metabolites, and a relative decrease in the conversion of vitamin D to a polar, biologically active metabolite. Alterations in vitamin D metabolism in the adults with persistent hypophosphatemia were similar but less severe than those of affected children with vitamin D-resistant rickets. It is tentatively concluded that the abnormalities in vitamin D metabolism documented in patients with vitamin D-resistant rickets and familial hypophosphatemia may account for the observed osseous and biochemical changes.

Adolescent↗
PubMed1999

Rickets and deprivation: a Nigerian study.

Under-fives in 461 households were assessed clinically to determine the prevalence of rickets in sub-urban and rural communities in the Sahel savanna. Overt rickets was found in 11 (2.4%) of households and abnormalities suggestive of rickets in 69 (14.9%). There were significant variations (p < 0.05) in the prevalence of rickets in association with ethnic grouping (higher in southerners and non-Kanuri, non-Hausa-Fulani northerners), religion (more prevalent among Christians), and mother's occupation and educational status (higher with working class mothers and mothers with at least a primary education). A significantly higher prevalence was also associated with late introduction (at more than seven months of age) of cereals to the infant's diet, more than one under-five in a household and presence of under-fives aged 13-43 months. In contrast, no significant variations in prevalence were observed in association with duration of breast feeding, use of multivitamins or cod liver oil, history of convulsions in under-fives, sex, nutritional status, or history of diarrhoea within a recall period of six months. Thus, rickets is common in under-fives in rural and sub-urban communities in the Sahel savanna and may be related more to environmental and dietary factors than to culture and religion. Further studies are required to determine the relative roles of vitamin D or calcium deficiency to facilitate the planning and execution of a community-based intervention programme in the area.

Chi-Square Distribution↗
PubMed2004

Posterior cranial fossa volume in patients with rickets: insights into the increased occurrence of Chiari I malformation in metabolic bone disease.

OBJECTIVE: Some have proposed that the calvarial thickening seen in patients with rickets results in an increased rate of Chiari I malformation (CIM) in these patients. The present study measures the posterior fossa volume in children with rickets to verify previous case reports indicting a small posterior fossa as the cause for an increased rate of CIM in children with rickets. METHODS: Patients were chosen by use of a computer database to search for individuals diagnosed with rickets. Nineteen patients were identified with this diagnosis. Seven patients were found from this cohort to have imaging of the head. Axial computed tomographic and magnetic resonance images were analyzed by use of the Cavalieri method to define posterior fossa volumes. These data were then compared with those from age-matched control subjects. RESULTS: Mean volumes of the posterior fossa were significantly reduced in all patients compared with age-matched control subjects (P < 0.0001). CONCLUSION: We have found that the volume of the posterior fossa is significantly smaller in children with rickets versus age-matched control subjects. Furthermore, 29% of our study group had an associated CIM. We may hope that these data will aid in the further understanding of the pathophysiology of CIM in cases of metabolic bone disease.

Adolescent↗
PubMedDate not supplied

Adolescent rickets in Saudi Arabia: a rich and sunny country.

In this retrospective study from Saudi Arabia, which is a rich and sunny country, we report our experience with 34 adolescents (20 females, 10 males) with rickets. The commonest cause was vitamin D deficiency (58.8%) followed by rickets due to low calcium intake (11.8%) and genetic causes, including possible 25-hydroxylase deficiency (8.8%). The etiology of nutritional rickets is multifactorial, including lack of sun exposure and inadequate calcium intake. The clinical symptoms were nonspecific and therefore cases in this country are either underdiagnosed or missed. Vitamin D deficient patients needed an average of 19 months of treatment before recovery. High dose vitamin D plus calcium supplementation are recommended for treatment. Measures to prevent rickets in all age groups including adolescents are suggested. Further studies on nutritional and genetic forms of rickets are recommended.

Adolescent↗
PubMed2006

Hypophosphatemic rickets and osteomalacia.

The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of calcitriol, causing osteomalacia or rickets in children and osteomalacia in adults. X-linked hypophosphatemic rickets, autosomal-dominant hypophosphatemic rickets, and tumor-induced osteomalacia are the main syndromes involved in the hypophosphatemic rickets. Although these conditions exhibit different etiologies, there is a common link among them: increased activity of a phosphaturic factor, being the fibroblast growth factor 23 (FGF-23) the most studied one and to which is attributed a central role in the pathophysiology of the hyperphosphaturic disturbances. Activating mutations of FGF-23 and inactivating mutations in the PHEX gene (a gene on the X chromosome that codes for a Zn-metaloendopeptidase proteolytic enzyme which regulates the phosphate) involved in the regulation of FGF-23 have been identified and have been implicated in the pathogenesis of these disturbances. Genetic studies tend to show that the phosphorus homeostasis depends on a complex osteo-renal metabolic axis, whose mechanisms of interaction have been poorly understood so far. This paper reviews the current knowledge status concerning the pathophysiology of phosphate metabolism regulation and the pathophysiologic basis of hypophosphatemic rickets. It also analyzes the clinical picture and the therapeutic aspects of these conditions as well.

Adolescent↗
PubMed2007

Vitamin D receptor polymorphism among rickets children in Mongolia.

BACKGROUND: It was reported that 32% of children under five years old in Mongolia had symptoms of rickets. Vitamin D receptor (VDR) gene polymorphism has received attention in relation to bone metabolism. We therefore investigated whether VDR polymorphism is related to high prevalence of rickets in Mongolia and to bone properties in childhood. METHODS: We conducted a case-control study in Ulaanbaatar involving 80 children aged 7-10 years with a history of rickets (cases) and 72 children with no history of rickets (controls). VDR polymorphism was assessed using BsmI, ApaI, and TaqI, and bone properties were determined by measuring age standardized tibial cortical speed of sound (TCSOS). FINDINGS: Each allelic frequency was verified to satisfy the Hardy-Weinberg equilibrium in cases, controls, and the total sample. The VDR polymorphisms among cases (BB 3%, Bb 18%, bb 80%; AA 15%, Aa 38%, aa 47%; and TT 81%, Tt 17%, tt 3%) did not differ significantly from those among controls (BB 1%, Bb 13%, bb 86%; AA 16%, Aa 46%, aa 38%; and TT 86%, Tt 13%, tt 1%). There were no significant differences in TCSOS according to the VDR genotype among either cases or controls. CONCLUSIONS: The VDR polymorphism does not play a major role in the development of rickets in Mongolia and has no effect on TCSOS in childhood.

Bone Density↗
PubMed1999

[Therapeutic use of vitamin D and its analogues for rickets and osteomalacia].

Recently, It has become clear that the mutant gene in X-linked hypophosphatemic rickets, vitamin D dependent rickets type I, and vitamin D dependent rickets type II were identified and they were caused by the disorder in the activation of vitamin D and the intracellular defect in vitamin D receptor. In this paper, the pathophysiology in various type of rickets or osteomalacia and the treatment by vitamin D agents were reported. So far, 1, alpha-(OH) D3 and 1, 25-(OH)2D3 have been effectively used as the treatment of these disease. However, vitamin D poisoning caused by these agents is still a serious issue for the treatment. In the near future, more effective treatment using genetic engineering is expected to treat the disorder of phosphate metabolism in X-linked hypophosphatemic rickets.

Female↗
PubMed1989

[Deficiency rickets: the current situation in France and Algeria].

Persisting vitamin D deficiency rickets in France results from the climatic, environmental and geographic situation of this country. Although systematic administration of vitamin D supplements to infants greatly reduced the prevalence of rickets among infants, clinical and/or biological signs of vitamin D deficiency are still found in children and adolescents, mainly during the winter and in populations vulnerable for economic, cultural or religious reasons. Signs of vitamin D deficiency are also found, during the winter-spring seasons, in pregnant women and their newborns living in urban areas. Such vitamin D deficiencies could be overcome by vitamin D supplementation to susceptible populations. In Algeria, vitamin D deficiency rickets present a continuing public health problem. The persisting high incidence of rickets among children appears to result mainly from economic and cultural factors. Vitamin D supplementation and health education are mandatory to reduce the prevalence of vitamin D deficiency among pregnant women and the occurrence of vitamin D deficiency rickets in infants, whether breast-fed or not.

Algeria↗
PubMed1984

Prevalence of rickets at the age of 12 months. A study of appropriately developed for gestational age but premature infants.

A prospective study to determine the prevalence rates of rickets, as determined by clinical, biochemical and radiological examinations performed at the age of 12 months in preterm infants of low birth weight and full-term control infants of mothers in lower socio-economic classes, was carried out. Clinical rickets was suspected in 5 cases. Biochemical and/or radiological evidence of rickets was not evident in any of the infants studied, although 4 infants showed radiological evidence of osteopenia. Serum alkaline phosphatase and 25-hydroxycholecalciferol levels showed significant seasonal variations. Serum zinc and copper levels were within normal ranges for age. The true prevalence rate of rickets during infancy among the prematurely born or full-term infants in Cape Town is not known. The findings of our study show that as long as the mother utilizes the available community health services her infant should not develop nutritional rickets by the age of 12 months.

Female↗
PubMed1994

Clinical aspects and causes of rickets in a Kenyan population.

Twenty nine patients with rickets were studied in a one year period. The majority of patients (17/29) were below 2 years of age. Most of them had nutritional rickets resulting from a combination of factors. Premature delivery, nonexposure to sunlight, nutritional marasmus and inappropriate dietary intake. Some had familial hypophosphataemic rickets, others had renal tubular acidosis while the rest had rickets with a familial tendency. Both the previous hospital records and the present study indicate that rickets is a persistent problem in children in the community and should be suspected in children who present with features of failure to thrive, among other conditions.

Case-Control Studies↗
PubMed1977

Vitamin D-resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions.

A 5-year-old boy was found to have severe rickets in association with hyperpigmented, linear, verrucous, epidermal tumors, typical of the epidermal nevus syndrome. Normocalcemia (9.6 mg/dl), hypophosphatemia (2.0 mg/dl), elevated serum alkaline phosphatase concentration (313 IU), decreased renal tubular reabsorption of phosphorus (35%), radiologic evidence of rickets, and lack of response to usual therapeutic doses of vitamin D suggested hypophosphatemic vitamin D-resistant rickets. Therapy with vitamin D in doses to 750,000 IU and oral phosphate, 2.0 gm/day, failed to induce healing of the rickets. A subtotal parathyroidectomy performed when the patient was 9 years old was also without effect. When he was 12 years old several fibroangiomas on the face and left lower limb were excised. Within three months all biochemical abnormalities resolved and radiologic evidence of healing was observed. A portion of excised tissue was homogenized and injection of the supernate into a 6-week-old puppy induced excessive phosphaturia. The data suggest that the rickets was induced by a phosphaturic substance extractable from the tumors.

Calcium↗
PubMed1995

Unique form of rickets with low serum 25-hydroxyvitamin D in two normally nourished children.

We present an unusual type of rickets involving two children: a 2 year old boy and a 15 month old boy, who presented with marked bowing of the lower extremities and bulging of costochondral junctions. Both children had normal growth, with their height and body weight greater than the 50th and 97th percentile for age. Roentgenograms of their extremities showed the typical changes of vitamin D refractory rickets. Serum alkaline phosphatase levels were elevated and serum levels of calcium and phosphate were both within the normal range. No primary cause for the rickets, including nutritional deficiencies, was found in the two patients. Characteristic findings were persistently low serum 25-hydroxyvitamin D (25-OH-D) and normal 1,25-dihydroxyvitamin D (1,25-(OH)2-D). Improvements in clinical and X-ray findings were observed after either oral administration of 1 alpha-(OH)-D3 (9-15 micrograms per day) or massive vitamin D2 therapy (600,000 IU single injection). The low serum levels of 25-OH-D did not increase unless massive vitamin D2 therapy was also given. These two cases represent a unique form of rickets that does not meet the criteria for any type of previously known rickets.

25-Hydroxyvitamin D 2↗
PubMed2001

Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets.

PHEX is the gene defective in X-linked hypophosphatemic rickets. In this study, analysis of PHEX revealed mutations in 22 hypophosphatemic rickets patients, including 16 of 28 patients in whom all 22 PHEX exons were studied. In 13 patients, in whom no PHEX mutation had been previously detected in 17 exons, the remaining 5 PHEX exons were analyzed and mutations found in 6 patients. Twenty different mutations were identified, including 16 mutations predicted to truncate PHEX and 4 missense mutations. Phenotype analysis was performed on 31 hypophosphatemic rickets patients with PHEX mutations, including the 22 patients identified in this study, 9 patients previously identified, and affected family members. No correlation was found between the severity of disease and the type or location of the mutation. However, among patients with a family history of hypophosphatemic rickets, there was a trend toward more severe skeletal disease in patients with truncating mutations. Family members in more recent generations had a milder phenotype. Postpubertal males had a more severe dental phenotype. In conclusion, although identifying mutations in PHEX may have limited prognostic value, genetic testing may be useful for the early identification and treatment of affected individuals. Furthermore, this study suggests that other genes and environmental factors affect the severity of hypophosphatemic rickets.

Adolescent↗