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At least 109 records · Page 6Linked to original sources
PubMed1994

Solomon's epidermal nevus syndrome (type: linear nevus sebaceus) and hypophosphatemic vitamin D-resistant rickets.

BACKGROUND: Epidermal nevus syndrome is very variable in symptoms and associated abnormalities. Synonyms of this syndrome are linear nevus sebaceus syndrome or Schimmelpenning-Feuerstein-Mims syndrome or Solomon syndrome. The combination with vitamin D-resistant rickets is rare and only sporadically described. Less than 10 cases with this combination of symptoms have been described in the literature. OBSERVATIONS: We describe a boy suffering from epidermal nevus syndrome (type: nevus sebaceus). This child also presented with severe rickets with hyperphosphaturia, resistant to vitamin D. Our patient was seen in consultation at birth, but after a delay of 4 years we were consulted again for a second opinion and treatment; the vitamin D-resistant rickets was recognized. Treatment with 1,25-dihydroxy vitamin D3 and phosphorus resulted in healing of rickets. Removal of parts of the tumors did not influence the rickets. This is in contrast with a formerly described case. Removal of fibroangiomas led in that case to normalization of the alkaline phosphatase, calcium, and phosphate serum levels. CONCLUSIONS: The rickets results from massive phosphate excretion by defective renal tubular reabsorption of phosphate. In all patients described, rickets developed at an early age. Clinical symptoms were marked bone abnormalities, muscle weakness, and bone pain.

Child↗
PubMed1997

Elevated collagen turnover in Nigerian children with calcium-deficiency rickets.

Calcium deficiency is a major etiological determinant of rickets in Nigerian children and is accompanied by undermineralization of the developing bone matrix which is composed largely of type I collagen. We have assessed types I and III collagen metabolism by measuring the circulating concentrations of teh N- and C-terminal pro-peptides (intact PINP and PICP) and the C-terminal telopeptide (ICTP) of type I collagen, and the N-terminal pro-peptide (PIIINP) of type III collagen in 94 healthy Nigerian children and in 44 children aged 1-5 years with active calcium-deficiency rickets. In active rickets the mean levels of the four collagen metabolites were approximately twofold higher than in the healthy children, despite a wide variation of individual values. Mean intact PINP was 812 +/- 279 versus 403 +/- 189 microg/liter; PICP was 573 +/- 265 versus 348 +/- 299 microg/liter; PIIINP was 16.8 +/- 8.6 versus 10.8 +/- 3.6 microg/liter, and ICTP was 28.4 +/- 17.2 versus 11.9 +/- 4.1 microg/liter (all P < 0.001), in rachitic and healthy children, respectively. Healthy children younger than 3 years had higher levels of all the collagen metabolites than those between 3 and 5 years (all P < 0.05). Alkaline phosphatase was greater in rickets than in the healthy group (P < 0.001) whereas mean osteocalcin levels were slightly lower (P = 0.009). 1,25(OH)2D correlated with all the collagen propeptides, but not with ICTP in the healthy children. No such correlations were found in rickets, where there was a poor inverse correlation between 1,25(OH)2D and ICTP. These data suggest that collagen turnover is elevated in cases of calcium-deficiency rickets, where vitamin D status is adequate, possibly indicating increased turnover of undermineralized osteoid.

Bone Development↗
PubMed2003

Rapid assessment of the prevalence of lower limb clinical rickets in Bangladesh.

This study attempted to measure the prevalence of lower limb clinical rickets using a rapid assessment methodology in Cox's Bazaar, a coastal district of Bangladesh. The study populations were drawn from 28 random villages representing all seven 'thanas' (subdistricts) of the district. Data were collected on 25,891 children and young people aged 1-20 years in two phases. In the first phase, 30 trained, local, non-medical people listed 490 children suffering from visible signs of any physical disability. To achieve this, they demonstrated a multicolored poster showing the features of lower limb clinical rickets to key informants in the villages. In the second phase, two teams of medically trained people (physicians), each with one male and one female, validated the above cases for rickets. They verified and validated 278 cases in five thanas. Due to inclement weather and floods, they could not visit the other two thanas. Based on these data, the adjusted prevalence rates for lower limb clinical rickets were calculated to be 931 per 100,000 population (95% confidence intervals 795-1067). The prevalence was highest (1215) in children aged 1-4 years and lowest (498) amongst 17-20 year olds. Females had lower prevalence than males. Based on the study experience, a quick investigation using a similar methodology was performed in five other districts (Sunamganj, Noakhali, Bhola, Jessore and Gaibandha), and clinical signs of lower limb rickets were found in Sunamganj and Jessore. It thus indicates that rickets may be endemic, not only in Cox's Bazaar but also in some other parts of Bangladesh. The methodology used for this study was found to be rapid, simple, replicable and inexpensive.

Adolescent↗
PubMed1981

Reduced prevalence of rickets in Asian children in Glasgow.

As judged by admissions to a children's hospital, the prevalence of Asian rickets in Glasgow increased from 1960 to 1973 and then decreased gradually. 400 children born of Indian or Pakistani parents (200 in 1974 and 200 in 1979), from two schools, were examined for clinical, biochemical, and radiological evidence of vitamin-D deficiency. In 1974 there were 10 children with florid rickets and 15 with subclinical rickets, whereas in 1979 no child had florid rickets and only 9 had subclinical rickets. Most Asian children now receive vitamin-D supplements. In the short term, general practitioners, physicians, and obstetricians in the United Kingdom must try to ensure vitamin D supplementation not only by children but also by young adults (aged 13-18 years) of Asian origin. A particular target should be pregnant Asian women, to prevent osteomalacia, fetal hypovitaminosis, and congenital rickets. The long-term answer to Asian probably lies in health education and a change towards the Western diet and life-style.

Adolescent↗
PubMed1985

Proteoglycans and glycosaminoglycans of epiphyseal cartilage in florid and healing low phosphate, vitamin D deficiency rickets.

The composition of proteoglycans and glycosaminoglycans in two portions of the rat epiphyseal growth cartilage in florid and healing low phosphate, vitamin D deficiency rickets was studied. The concentration of both chondroitin sulfate and keratan sulfate was reduced with about 25 per cent in the lower (mineralizing) part of the growth plate in healing rickets compared to the lower (hypertrophic) part in florid rickets. In all samples about 85 per cent of the chondroitin sulfate chains had a sulfate ester group in the fourth position. Both in florid and healing rickets only one main population of polydisperse proteoglycans was found. In florid rickets the capacity to form aggregates with hyaluronic acid was the same in the upper and lower parts of the growth plate. With the onset of mineralization in healing rickets, however, a substantial decrease in this aggregability was demonstrated. These results give further support to the hypothesis that proteoglycans and, especially, proteoglycan aggregates, play a role in the mineralization process.

Animals↗
PubMed1998

Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.

BACKGROUND: Pseudovitamin D-deficiency rickets is characterized by the early onset of rickets with hypocalcemia and is thought to be caused by a deficit in renal 25-hydroxyvitamin D3 1alpha-hydroxylase, the key enzyme for the synthesis of 1alpha,25-dihydroxyvitamin D3. METHODS: We cloned human 25-hydroxyvitamin D3 1alpha-hydroxylase complementary DNA (cDNA) using a mouse 1alpha-hydroxylase cDNA fragment as a probe. Its genomic structure was determined, and its chromosomal location was mapped by fluorescence in situ hybridization. We then identified mutations in the 1alpha-hydroxylase gene in four unrelated patients with pseudovitamin D-deficiency rickets by DNA-sequence analysis. Both the normal and the mutant 1alpha-hydroxylase proteins were expressed in COS-1 cells and were assayed for 1alpha-hydroxylase activity. RESULTS: The gene for 25-hydroxyvitamin D3 1alpha-hydroxylase was mapped to chromosome 12q13.3, which had previously been reported to be the locus for pseudovitamin D-deficiency rickets by linkage analysis. Four different homozygous missense mutations were detected in this gene in the four patients with pseudovitamin D-deficiency rickets. The unaffected parents and one sibling tested were heterozygous for the mutations. Functional analysis of the mutant 1alpha-hydroxylase protein revealed that all four mutations abolished 1alpha-hydroxylase activity. CONCLUSIONS: Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene are a cause of pseudovitamin D-deficiency rickets.

25-Hydroxyvitamin D3 1-alpha-Hydroxylase↗
PubMed1976

Diets and living conditions of Asian boys in Coventry with and without signs of rickets.

1. The diets and living conditions of nin Asian boys with biochemical, and in most instances also radiological, signs of rickets were compared with those of nine other boys who appeared to be normal. The groups were matched according to age, religion, place of father's origin and boy's own place of birth. 2. There were no outstanding differences between the diets of the boys with, and of those without signs of rickets. All had adequate to high calcium intakes. Most of the boys had low intakes of vitamin D, and those withsigns of rickets generally had lower intakes than the normal boys. The food tables used for making the calculations of vitamin D intakes report the amount of the vitamin in the lipid fraction of milk. If it proves to be true that most of the vitamin D activity of milk is in the aqueous fraction, the boys would have been getting considerably more vitamin D than the results suggested, and their average intake may have been about 3-5mug/d. 3. It was not possible to make any quantitative measure of the exposure of the boys to sunlight. All Asian boys studied appeared to have their bodies more completely covered than British or West Indian boys. 4. The problem of why nine boys had signs of rickets and nine had none has not been solved. It is suggested that those with signs of rickets may have had higher requirements for vitamin D than others. When the intake of vitamin D is low and exposure to sunlight is minimal, those with high requirements will be the ones to develop signs of rickets.

Adolescent↗
PubMed1976

Vitamin D deficiency and rickets.

Classical experimental rickets in the rat is a dual deficiency, resulting from both phosphate and vitamin D deficiency, with many of the features of rickets reproducible by simple phosphorus deficiency. Simple vitamin D deficiency differs markedly from experimental rickets, with only the absence of the vitamin D-dependent calcium-binding proteins common to both situations. The expression at the bone level of vitamin D deficiency differs in the two conditions, with rickets leading to profound structural and metabolic changes, whereas simple vitamin deficiency primarily compromises the regulatory function of bone, without obvious structural alterations. It is proposed that human nutritional rickets is the result of a nutritional vitamin D deficiency that aggravates the expression of a pre-existing metabolic defect in phosphate transport. Simple nutritional vitamin D deficiency, unaccompanied by rickets, may occur, but probably has always been rare.

Animals↗
PubMed2004

Nutritional rickets among children in the United States: review of cases reported between 1986 and 2003.

Reports of hypovitaminosis D among adults in the United States have drawn attention to the vitamin D status of children. National data on hypovitaminosis D among children are not yet available. Reports from 2000 and 2001 of rickets among children living in North Carolina, Texas, Georgia, and the mid-Atlantic region, however, confirmed the presence of vitamin D deficiency among some US children and prompted new clinical guidelines to prevent its occurrence. We reviewed reports of nutritional rickets among US children <18 y of age that were published between 1986 and 2003. We identified 166 cases of rickets in 22 published studies. Patients were 4-54 mo of age, although in 17 studies the maximal age was <30 mo. Approximately 83% of children with rickets were described as African American or black, and 96% were breast-fed. Among children who were breast-fed, only 5% of records indicated vitamin D supplementation during breast-feeding. The American Academy of Pediatrics (AAP) recently recommended a minimal intake of 200 IU/d vitamin D for all infants, beginning in the first 2 mo of life. AAP recommends a vitamin D supplement for breast-fed infants who do not consume at least 500 mL of a vitamin D-fortified beverage. Given our finding of a disproportionate number of rickets cases among young, breast-fed, black children, we recommend that education regarding AAP guidelines emphasize the higher risk of rickets among these children. Education should also emphasize the importance of weaning children to a diet adequate in both vitamin D and calcium.

Adolescent↗
PubMed2005

Vitamin D deficiency rickets caused by improper lifestyle in Japanese children.

BACKGROUND: Nutritional rickets is considered rare in developed countries. However, reports on vitamin D deficiency rickets caused by improper lifestyle have recently increased. The clinical and laboratory characteristics of patients with vitamin D deficiency rickets treated at Fukuoka Children's Hospital, Fukuoka, Japan, were evaluated to clarify current causes and ways to prevent this disease. METHODS: Clinical records were reviewed, and obtained information and data were summarized. RESULTS: Eight patients with vitamin D deficiency rickets (five boys and three girls) were treated during the past 10 years (January 1992 to December 2001). Two infants were referred to the hospital for hypocalcemia and convulsion, and six toddlers (1-2 years old) for bowlegs. One patient lacked exposure to sunlight, and six had an unbalanced diet. The cause of rickets could not be established in one patient. Anthropometric and laboratory data did not indicate malnutrition. Serum alkaline phosphatase was 2518.3 +/- 1401.7 IU/l, calcium was 8.2 +/- 2.6 mg/dL (including 4.7 mg/dL in one infant and 4.8 mg/dL in another), and phosphorus was 4.9 +/- 1.0 mg/dL. High sensitive parathyroid hormone was 1393.1 +/- 321.7 pg/mL (reference range, 180-560), 1,25-dihydroxyvitamin D was 86.0 +/- 61.5 pg/mL (reference range, 20-70), and 25-hydroxyvitamin D was 11.6 +/- 5.6 ng/mL (reference range, 10-30). The patients recovered with a change to a balanced diet, the promotion of weaning, and/or an increase in sunlight exposure. CONCLUSION: Vitamin D deficiency rickets remains a common condition that is best managed by education and disease prevention.

Alkaline Phosphatase↗
PubMed1978

Case of tumour rickets.

A 10-year-old boy, with widespread soft tissue tumours of bone, developed hypophosphataemic rickets due to impaired renal tubular reabsorption of phosphate. Biopsy of the largest tumour showed a nonosteogenic fibroma. We believe this boy is another example of 'tumour rickets', as other causes of rickets were excluded clinically and biochemically. Cases of rickets or osteomalacia associated with a tumour, have generally been reported to be cured by surgical removal of the tumour, implicating it as the cause of rickets or osteomalacia. Owing to the large number of tumours in this boy, surgical removal was not possible, and he required large doses of vitamin D, together with oral phosphate, before his rickets healed. It is suggested that the tumour produces a phosphaturic hormone.

Bone Neoplasms↗
PubMed1981

Factors causing rickets in institutionalised handicapped children on anticonvulsant therapy.

An epidemiological study on vitamin D-dependent rickets was carried out in severely handicapped institutionalised children on long-term anticonvulsant therapy. Nine (10%) of 94 patients had overt rickets on the basis of roentgenological bone changes and biochemical indices, but 46 patients in hospital without medication, and 50 epileptic patients attending an outpatient clinic and taking anticonvulsants had no sign of rickets. Causative factors for the development of rickets were evaluated. Administration of anticonvulsive drugs depressed the serum 25-hydroxyvitamin D (25-OHD) level, but this was not the major factor in the development of rickets. Vitamin D intake seemed to be about average in these patients and its supplementation increased their serum 25-OHD level. This serum 25-OHD level was not maintained by supplemental vitamin D, unless the children were exposed to sunlight. These results indicate that although several factors--such as anticonvulsants, low vitamin D intake, and inactivity--are concerned in the development of rickets, the main cause is lack of sun in institutionalised handicapped children.

25-Hydroxyvitamin D 2↗
PubMed1972

Rickets and osteomalacia in the Glasgow Pakistani community, 1961-71.

The prevalence of vitamin D deficiency was reassessed in April and May 1971, 10 years after the discovery of widespread late rickets and osteomalacia in the Glasgow Pakistani community. Evidence of vitamin D deficiency was found in 28 out of 115 adults and children examined (24%). Children at the age of puberty were most severely affected by rickets, whereas most infants and younger children in the survey were protected by vitamin D supplements. Mild biochemical osteomalacia was common in Pakistani women.A total of 21 Pakistani and Indian children with rickets were admitted to Glasgow hospitals during 1968-70. These comprised 10 children with infantile rickets and 11 with late rickets. Four of the latter group required osteotomy for severe rachitic deformity.Late rickets and osteomalacia in Pakistani and Indian immigrants are not primarily due to nutritional deficiency of vitamin D, though the high phytate content of their diet may be of aetiological importance. A combination of environmental, social, and endogenous factors, the relative importance of which is not at present clear, may also be involved. Advice on the prophylaxis of vitamin D deficiency should be given to all Pakistani and Indian communities in the United Kingdom.

Adolescent↗
PubMed2000

Vitamin D receptor polymorphisms and nutritional rickets in Nigerian children.

Nutritional rickets is common in Nigeria where vitamin D deficiency is rare and dietary insufficiency of calcium is common. It occurs more commonly in siblings of affected children than of unaffected children. Postulating that vitamin D receptor (VDR) polymorphisms might relate to the susceptibility of some Nigerian children to develop rickets in the setting of low calcium intake, we compared the VDR genotypes, as determined by the presence or absence of Bsm I, Apa I, Taq I, and Fok I restriction enzyme cleavage sites, between 105 children with active nutritional rickets and 94 subjects representative of the community from which the rachitic children came. In the rickets group, the ff genotype was less common than in the community group, and the FF genotype was relatively increased (f allele frequency, 17% in rachitic children and 26% in the community group, p = 0.03). Neither individual allele frequencies for the other polymorphisms nor combinations of genotypes at different sites were different between the rachitic and community groups. Although it is not clear why a presumed better-functioning VDR variant (F allele) is associated with an increased risk of developing rickets, this study raises the possibility that VDR alleles might be important in determining an individual's susceptibility to developing rickets when faced with dietary calcium deficiency.

Adult↗
PubMed2001

Pseudo-(tumor-induced) rickets.

An athletic 8-year-old boy developed severe muscle weakness over 2 years. At the age of 10 years, investigation for possible neuromuscular disease disclosed hypophosphatemia (1.8 mg/dl) and rickets. There was selective renal tubular wasting of inorganic phosphate (Pi) but no history of toxin exposure, familial bone or kidney disease, or biochemical evidence of vitamin D deficiency. Urine amino acid quantitation was unremarkable. Serum 1,25-dihydroxyvitamin D [1,25(OH)2D] concentration was in the lower half of the reference range. Our presumptive diagnosis was tumor-induced rickets; however, physical examination and bone scanning in search of a neoplasm were unrevealing. Soon after 1,25(OH)2D3 and Pi treatment began, muscle strength improved considerably. After 6 months of therapy, radiographic abnormalities were substantially better. During the next 6 years, physical examinations, a second bone scan, whole-body and nasal sinus magnetic resonance imaging, and octreotide scintigraphy were unremarkable. When his physes fused at the age of 16 years, assessment of his course showed excellent control of his rickets requiring decreasing doses of medication. Furthermore, fasting serum Pi levels and tubular maximum phosphorus/glomerular filtration (TmP/ GFR) values had increased steadily and normalized after 3 years of treatment. Accordingly, therapy was stopped. Seven months after stopping medication, he continues to feel completely well. Fasting serum Pi levels, TmP/GFR, other biochemical parameters of bone and mineral homeostasis, creatinine clearance, and renal sonography are normal. Neither spontaneous or pharmacologic cure of tumor-induced rickets or osteomalacia nor a patient matching ours has been reported. His disorder, which we call pseudo-(tumor-induced) rickets, should be considered when investigation for oncogenic rickets or osteomalacia discloses no causal lesion. Consequently, prolonged medical therapy and futile searches for a neoplasm may be avoided.

Calcitriol↗
PubMed2001

Rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia.

OBJECTIVE: Description of rickets as an unexpected initial manifestation in two children with abetalipoproteinemia and hypobetalipoproteinemia, and elucidation of its pathophysiology in these conditions. METHODOLOGY: Two infants aged two and six months with abetalipoproteinemia and hypobetalipoproteinemia respectively had clinical rickets at presentation, confirmed radiologically and biochemically. Vitamin D intake and serum levels were measured and other causes of rickets were looked for. RESULTS: Vitamin D intake and laboratory studies levels were suggestive of rickets due to calcium deficiency instead of vitamin D deficiency. Healing of rickets occurred with dietary treatment of the malabsorption, without any dietary calcium or significant vitamin D supplementation. CONCLUSION: Steatorrhea-induced calcium malabsorption seems to be the most likely cause of rickets in this entity.

Abetalipoproteinemia↗
PubMed1999

Vitamin D deficiency rickets: socio-demographic and clinical risk factors in children seen at a referral hospital in Addis Ababa.

OBJECTIVE: To test the association between vitamin D deficiency rickets and protein-energy malnutrition in Ethiopian children. SETTING: Ethio-Swedish Children's Hospital, a tertiary health facility catering for children coming from Addis Ababa and the surrounding districts. DESIGN: A case-control study. SUBJECTS: One hundred and fifty seven children under three years of age who had vitamin D deficiency rickets constituted the cases. Controls were the same number of children matched with cases for sex and age within one month and were seen within a week of case recruitment. RESULTS: Cases and controls were similar (p < 0.5) in terms of maternal education, paternal age, paternal education and family size. Factors strongly and independently associated with rickets were underweight, nutritional status [OR = 12.7 (95% CI 4.47-11.08)], marasmus [OR = 6.3 (95% CI 2.81-19.66)], lack of exposure to sunshine [OR = 3.5 (95% CI 1.33-5.84)] and non-married maternal marital status [OR = 5.1 (95% CI 2.90-10.62)]. CONCLUSION: Protein-energy-malnutrition is strongly associated with vitamin D deficiency rickets. Intervention strategies targeting vitamin D deficiency rickets should give emphasis to children with protein energy malnutrition. Further work will be required to define the causal links between rickets and the risk factors identified in the present study.

Case-Control Studies↗
PubMed2000

Nutritional rickets still afflict children in north Texas.

Nutritional rickets is uncommon in North America, particularly in regions where sunlight is plentiful. Recent epidemics in North America occurred in dark-skinned toddlers with poor nutrition who had insufficient exposure to sunlight and whose parents were members of ethnic, social, and socioeconomic groups with predisposing practices. Nine children (8 toddlers and 1 infant) were referred to the Bone Metabolic Clinic at Texas Scottish Rite Hospital for suspected rickets between October 1997 and October 1998. The diagnosis of nutritional rickets was based on clinical, biochemical, and radiological evidence. All children were dark-skinned: 8 were African Americans and 1 was of Hispanic parentage. All children were breast-fed with minimal intake of dairy products; none received vitamin supplementation. All children were followed up by health care professionals. Two patients were children of upper-middle class parents. Birth order was not a contributing factor in the development of nutritional rickets. Radiological and biochemical rachitic changes remitted within 3 months of vitamin D therapy combined with dietary modification. Primary care providers should consider vitamin D supplementation in all infants with increased skin pigmentation and especially in those who are primarily breast-fed. Nutritional rickets can develop in dark-skinned infants of any social or ethnic background. Residing in a geographical area with abundant sunlight is not a guarantee against the development of nutritional rickets in dark-skinned children.

Female↗