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At least 217 records · Page 12Linked to original sources
PubMed2005

[Association of vitamin D receptor gene Apa I polymorphism with vitamin D deficiency rickets].

OBJECTIVE: To study the association between vitamin D receptor (VDR) gene Apa I polymorphism and vitamin D deficiency rickets in children of Shanxi Han ethnic group, and to explore the significance of individual hereditary factors in the development of rickets. METHODS: This was a case control study. The grouping criteria were serum 25(OH)D(3) level, blood bone alkaline phosphatase and clinical symptom, respectively. The laboratory test methods were enzyme linked immunoassay and radioimmunoassay. PCR-RFLP technology was applied to examine VDR gene Apa I site polymorphism and Hardy-Weinberg hereditary balance test was used to examine the coincidence of gene distribution. RESULTS: Frequencies of AA, Aa and aa genotypes were 5.0%, 52.5% and 42.5% in the rickets group and 4.4%, 55.9% and 39.7% in the control group, respectively. Frequencies of A and a genotypes were 31.3% and 68.7% in the rickets group and 32.3% and 67.7% in the control group, respectively. There was not significant difference in the frequency distribution of VDR genotype and allelic genes between two groups (chi(2) = 0.089, P > 0.05; chi(2) = 0.028, P > 0.05). There was significant difference in the serum 25(OH)D(3) between two groups (t = -8.919, P < 0.01). CONCLUSION: The distribution of VDR gene Apa I polymorphism in children of Han ethnic group is balanced relatively. The Frequency of a allelic genes is 67.7% which is therefore the superior gene. VDR gene polymorphism might not be important in an individual's susceptibility to development of vitamin D deficiency.

Calcifediol↗
PubMed1991

[Pathological and X-ray study on bony specimens of rickets from 124 fetal and infantile autopsies].

The results of pathological and X-ray study on rickets of bony specimens from fetal and infantile autopsies are reported. Three important links were stressed in designing the study. The cases were divided into two groups: "congenital" and "postnatal". Each case has pathological slides and X-ray photographs of the rib, ulna and radius. GMA sections were used in this study to avoid decalcification and constriction of the bony specimens. The results showed that: Congenital rickets is existent in Beijing. Its incidence is 25.4%. The bony change was seen as early as 30 weeks of pregnancy. The pathological and X-ray features are not different between the "congenital" and "postnatal" groups; The incidence of fetal and infantile rickets is 35.5%. It is the highest in the rib, moderate in the ulna and lowest in the radius. The correlation of X-ray and pathological rickets was found to be 82.5% (rib), 77.3% (ulna) and 50% (radius). It can be seen that X-ray examination of the rib may raise the diagnostic rate to 12 times of that based on traditional wrist examination.

Fetus↗
PubMed1990

Severe rickets in a children's hospital in Addis Ababa.

A retrospective, case-controlled study of rachitic patients admitted to Ethio-Swedish Children's Hospital (ESCH), Addis Ababa, Ethiopia, over a ten-year period (1979-1988) is presented. Clinical records of 131 patients with clinical and radiological evidence of rickets and an equal number of randomly selected, age and sex matched controls with no rickets were analysed. Rickets was found to be more common in males (2:1) and at 6 to 18 months of age (79%). Associated findings were infectious diseases (90%), protein-energy malnutrition (75%), anaemia (39%), and congestive heart failure (16). Mortality was much higher in rachitic patients. The admission rates show a progressive increase over the study period. The need for early diagnosis and treatment, continued nutrition and health education, and further study to elucidate the relation between protein-energy malnutrition (PEM) and rickets is suggested.

Age Factors↗
PubMed1989

Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria.

A 14-year-old Turkish boy had severe rickets that had been clinically evident since he was 2 years of age. When he was 5 years of age, he had normal serum calcium and phosphorus levels and increased alkaline phosphatase activity. Treatment with modest dosages of vitamin D (5000 U/d for 3 weeks) resulted in hypercalcemia. At 10 years of age, high-dose vitamin D (40,000 U/d) plus phosphorus (1.1 g/d) therapy for 20 days resulted in symptomatic nephrolithiasis. When, 14 years of age, he had normocalcemia, hypophosphatemia, increased alkaline phosphatase activity, and normal circulating parathyroid hormone concentration. Levels of 25-hydroxyvitamin D were normal but those of 1,25-dihydroxyvitamin D were markedly increased. Rickets and osteopenia were evident on radiographs, and osteomalacia was present on trabecular bone obtained at biopsy. Balance study results showed increased intestinal absorption of calcium and phosphorus, hypercalciuria, and increased urinary phosphorus excretion. This patient manifests an unusual form of hypophosphatemic rickets in which hypercalciuria is a cardinal feature. In contrast with most varieties of hypophosphatemia, this disorder is characterized by appropriately increased production of 1,25-dihydroxyvitamin D in response to hypophosphatemia. It is recommended that urinary calcium excretion be assessed in all patients with hypophosphatemic rickets so that appropriate therapy will be instituted.

Adolescent↗
PubMed1986

Vitamin-D-deficient rickets in Manitoba, 1972-84.

Vitamin-D-deficient rickets still exists in children in Manitoba and adjacent areas. Between 1972 and 1984, 48 cases were documented at Winnipeg Children's Hospital. The patients ranged in age from 1 to 49 months; 40 were Canadian natives (38 Indians and 2 Inuit), most of whom lived in the Island Lake area of northern Manitoba. Of the 48, 16 had clinical signs of rickets, 12 had tetany due to hypocalcemia and 38 had radiologic evidence of rickets. Hypocalcemia was found in 27, and hypophosphatemia in 19; hyperaminoaciduria was found in 7 of 20. All 48 had elevated serum alkaline phosphatase levels. In addition to rickets, 16 patients aged 12 months or more had evidence of malnutrition. Climate and lifestyle in northern areas of the Canadian midwest result in little or no biosynthesis of vitamin D by solar radiation; therefore, adequate dietary vitamin D intake is essential to prevent deficiency. The diets of pregnant women and infants in these areas are deficient in vitamin D. The authors recommend vitamin D supplements for all pregnant women and infants in areas of risk to eradicate this preventable disease.

Amino Acids↗
PubMed1957

Vitamin D resistant rickets.

Vitamin D resistant rickets is not a rare disorder. Increased awareness of this metabolic disorder during the examination of children with bowed legs, even infants receiving normal supplements of vitamin D, may lead to diagnosis oftener. Ten previously unrecorded cases of this disorder are included within this report. Three of the patients had associated congenital anomalies which also required treatment. Treatment of the vitamin D resistant rickets consists of the oral administration of large doses of vitamin D. Careful observation of patients during vitamin D therapy to prevent overdosage and resultant hypercalcemia is of utmost importance. Surgical correction of the bony deformities is rarely necessary. The cause of vitamin D resistant rickets is thought to be a defect of renal tubular mechanisms.

Administration, Oral↗
PubMedDate not supplied

Hypophosphatemic rickets: easy to diagnose, difficult to treat.

Hypophosphatemic rickets (HR) has generated a lot of interest in recent times. There is need to recognize this disorder and differentiate it from the more common nutritional rickets because the therapy is different. It is also important to emphasize that a detailed clinical examination with pedigree analysis and easily available biochemical tests are adequate to establish the diagnosis in most cases. This report presents three families with hypophosphatemic rickets. Interestingly, many of these patients had a mixed picture of HR and nutritional rickets. Their important features are described with special emphasis on early initiation of treatment with oral phosphate and stringent monitoring of renal functions to prevent development of irreversible renal insufficiency.

Adolescent↗
PubMedDate not supplied

Brown tumour as a complication of secondary hyperparathyroidism in severe long-lasting vitamin D deficiency rickets.

UNLABELLED: Brown tumour is a localised form of fibrous-cystic osteitis associated with primary or secondary hyperparathyroidism. Despite the fact that secondary hyperparathyroidism occurs in vitamin D deficiency rickets, no cases of rickets with brown tumour have so far been described. We present a 2.9-year-old girl who had brown tumour of the mandible due to severe vitamin D deficiency rickets. Treatment with vitamin D3 corrected the hyperparathyroidism rapidly which was followed by gradual regression in tumour size. CONCLUSION: Brown tumour can develop in severe, long-standing vitamin D deficiency rickets and responds to vitamin D treatment.

Child, Preschool↗
PubMed1999

Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature.

The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome.

Adolescent↗
PubMed1992

Calcium therapy for calcitriol-resistant rickets.

Ten patients with calcitriol-resistant rickets caused by a defect in the ligand-binding domain of the vitamin D receptor are described. Eight patients, 1.7 to 13.8 years of age, received high doses of elemental calcium (range, 0.4 to 1.4 gm/m2) through indwelling intracaval catheters for periods of 1.8 to 3.8 years. Two other patients, aged 1.1 and 2.2 years, were given oral calcium therapy as the sole mode of treatment. In five of the intravenously treated patients, oral calcium therapy was initiated after radiologic evidence of healing of the rickets. To maintain normal serum calcium concentration, the patients required daily doses of elemental calcium of 3.5 to 9 gm/m2 body surface area. Clinical improvement was observed within a week of the start of intravenous therapy, with disappearance of bone pain; several of the younger patients started to walk for the first time. Growth velocity increased within 2 to 3 months, from a pretreatment rate of -0.8 to -6.3 standard deviation score (SDS), to a posttreatment rate of +0.1 to +5.1 (SDS). Serum calcium, parathyroid hormone, phosphorus, and alkaline phosphatase values returned to normal within a year. Radiologic signs of healing occurred more rapidly in the intravenous treatment groups and in younger patients. Episodes of septicemia occurred frequently in those receiving parenteral therapy and required replacement of the catheter. We recommend that in the treatment of calcitriol-resistant rickets, oral calcium therapy be started at the youngest possible age, in doses to the limit of intestinal tolerance. When rickets is present, calcium should be infused through a large vessel in doses high enough to produce normocalcemia, normophosphatemia, and suppression of parathyroid hormone. Only after radiologic healing has been observed can oral calcium therapy be introduced.

Administration, Oral↗
PubMed1994

X-Linked hypophosphatemic rickets: a disease often unknown to affected patients.

X-Linked hypophosphatemic rickets (XLH) is an X-linked dominant disorder that is secondary to renal phosphate wasting. Affected individuals frequently present the following characteristics: short stature, lower-extremity deformity, bone pain, dental abscesses, enthesopathy, rickets, and osteomalacia. Since the disorder is characterized by evident phenotypic abnormalities, we hypothesized that there would be a high degree of knowledge about the disease in affected kindreds. Thus, we constructed a six-page, self-administered questionnaire to determine whether family members are, in fact, aware of their disease and properly diagnosed and treated. We also designed the survey to determine rates of symptoms thought to be associated with rickets/osteomalacia in a population with a lower referral bias than is usually seen in tertiary care centers. We administered the questionnaire to 234 study subjects (57 affected) who were members of one of three large kindreds. Although 62% of affected individuals knew they had some problem with their bones, only 22.6% were told by a physician that they had rickets or osteomalacia. This apparent lack of awareness occurred in spite of 61.1% of affected subjects complaining of bone or joint problems to their personal physician. Indeed, of those patients who had persistent complaints, only 34.5% were told they had rickets or osteomalacia. Only one patient was taking phosphate and vitamin D.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2000

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

Proper serum phosphate concentrations are maintained by a complex and poorly understood process. Identification of genes responsible for inherited disorders involving disturbances in phosphate homeostasis may provide insight into the pathways that regulate phosphate balance. Several hereditary disorders of isolated phosphate wasting have been described, including X-linked hypophosphataemic rickets (XLH), hypophosphataemic bone disease (HBD), hereditary hypophosphataemic rickets with hypercalciuria (HHRH) and autosomal dominant hypophosphataemic rickets (ADHR). Inactivating mutations of the gene PHEX, encoding a member of the neutral endopeptidase family of proteins, are responsible for XLH (refs 6,7). ADHR (MIM 193100) is characterized by low serum phosphorus concentrations, rickets, osteomalacia, lower extremity deformities, short stature, bone pain and dental abscesses. Here we describe a positional cloning approach used to identify the ADHR gene which included the annotation of 37 genes within 4 Mb of genomic sequence. We identified missense mutations in a gene encoding a new member of the fibroblast growth factor (FGF) family, FGF23. These mutations in patients with ADHR represent the first mutations found in a human FGF gene.

Abnormalities, Multiple↗
PubMed2003

Prolonged high-dose phosphate treatment: a risk factor for tertiary hyperparathyroidism in X-linked hypophosphatemic rickets.

OBJECTIVE: X-linked hypophosphatemic rickets is characterized by renal phosphate wasting, hypophosphatemia and defective bone mineralization. Treatment with oral phosphate (Pi) and calcitriol improves skeletal changes but associates with secondary hyperparathyroidism and nephrocalcinosis. Tertiary hyperparathyroidism is a rare complication of the treatment. The aim of the present study was to identify treatment-related factors that might be associated with the transition of secondary hyperparathyroidism to tertiary hyperparathyroidism in patients with X-linked hypophosphatemic rickets. DESIGN: Thirteen patients with X-linked hypophosphatemic rickets and secondary or tertiary hyperparathyroidism were included in the study. Their hospital records were reviewed and compared for onset, duration and dosage of treatment, and for age of diagnosis and degree of secondary hyperparathyroidism. RESULTS: Two patients developed tertiary hyperparathyroidism and 11 patients secondary hyperparathyroidism during the treatment. Patients with tertiary hyperparathyroidism had, on average, earlier onset and longer duration of treatment, higher dose of Pi and longer duration of treatment with very high Pi doses (> 100 mg/kg/day) compared to the 11 patients with secondary hyperparathyroidism. However, variation of all parameters was great with considerable overlap. Very high S-PTH levels > or = 42 pmol/l were observed in those who later developed tertiary hyperparathyroidism. CONCLUSIONS: Prolonged very high dose oral Pi treatment is a major risk factor for the development of tertiary hyperparathyroidism in X-linked hypophosphatemic rickets.

Administration, Oral↗
PubMed1998

Chiari malformation associated with vitamin D-resistant rickets: case report.

INTRODUCTION: Craniocervical junction abnormalities have a wide range of origins, from rare congenital conditions to common arthritic processes. We present a rare case of foramen magnum stenosis with Chiari I malformation and associated syringomyelia, which resulted from vitamin D-resistant hypophosphatemic rickets. METHODS: This 12-year-old male patient had a history of vitamin D-resistant rickets, and he presented with a 1-year history of increasing upper extremity weakness and sharp pain in the left shoulder and arm. Magnetic resonance imaging of his spine showed a large syrinx from C2 to T7, with significant foramen magnum stenosis and a Chiari Type I malformation. RESULTS: The patient underwent craniocervical decompression, consisting of a suboccipital craniectomy and C1 laminectomy with duraplasty. A pathological evaluation of bone yielded no diagnostic abnormality. Postoperative magnetic resonance imaging showed significant reduction in the diameter of the cervical thoracic spinal cord syrinx 3 months after surgery. The patient's pain and sensation in his left arm had not improved by that time, and he still had some diffuse weakness in his arms. Two years later, he had persistent left shoulder girdle pain and his syrinx had collapsed, except for a small residual from T2 to T6. DISCUSSION AND CONCLUSION: The bone disease of vitamin D-resistant rickets can involve the base of the cranium, precipitating the development of the Chiari malformation and associated syringomyelia. We review the association between rickets and Chiari malformation and discuss the management of these patients.

Arnold-Chiari Malformation↗
PubMed1998

The role of the PHEX gene (PEX) in families with X-linked hypophosphataemic rickets.

For over a hundred years, the bane of rickets (a disease of bone), has been prominent in those countries that have participated in, and seeded, the industrial revolution. Industrialisation had major effects of the demography of populations, and many people moved to dark, heavily industrialised cities to find work. It soon became apparent that rickets could be cured by supplementing the diet with cod liver oil and exposure to sunlight. This in turn led to the discovery that photoactivation of 7-dehydrocholesterol was required to produce vitamin D, an indispensable regulator of bone mineral metabolism. Although inadequate exposure to light and poor dietary intake are the main causes of rickets and osteomalacia, recent research has confirmed the role of familial, and tumour forms of the disease. This review will describe the recent advances in our knowledge of the molecular defects in X-linked hypophosphataemic rickets (HYP), and oncogenic hypophosphataemic osteomalacia (OHO). Although HYP and OHO have different primary defects, both diseases have similarities that suggest a linked or overlapping pathophysiology. Also, without doubt, the recent cloning of the gene defective in HYP (the PHEX gene), has given researchers a new reagent to explore the molecular regulation of bone and its links to kidney endocrine function. The fact that the PHEX gene codes for a Zn metallopeptidase raises new and intriguing questions, and adds new momentum to the research on diseases of bone mineral metabolism.

Animals↗
PubMedDate not supplied

Acquired vitamin D-resistant rickets caused by aggressive osteoblastoma in the pelvis: a case report with ten years' follow-up and review of the literature.

Rickets or osteomalacia secondary to tumor in either bone or soft tissue is rare and interesting in that it can be cured after removal of the tumor. The majority of the reported cases occurred in adults older than 30 years, and the most commonly associated types were vascular and fibrous tumors. We present a new case of aggressive osteoblastoma in the ilium, which induced vitamin D-resistant rickets in an 8-year, 9-month-old boy. Radiographs and blood chemistry findings on admission showed typical features of active hypophosphatemic ricketts. He underwent three local excisions of the tumor. At 10-year follow-up, the patient was symptom free but short. When a child has symptoms of rickets that develop relatively later than ordinary vitamin D-resistant rickets, every effort should be made to search out a tumorous lesion before attributing it to a renal origin.

Bone Neoplasms↗
PubMed1977

1alpha-hydroxyvitamin D3 in the treatment of nutritional and metabolic rickets and osteomalacia.

Five patients with nutritional osteomalacia or rickets and six children with rickets unresponsive to physiological doses of vitamin D were treated with 1alpha-hydroxyvitamin D3 (1alpha-OHD3). Patients with nutritional osteomalacia responded to 1--2 microgram/day of 1alpha-OHD3. The most striking findings were rises in plasma calcium and, in one case, a decrease in faecal calcium. In some cases there was a rise in plasma phosphorus, alkaline phosphatase remained unchanged. There was radiological healing. In three patients with cystinosis and one with hypophosphataemia and Barrter's syndrome 2 microgram of 1alpha-OHD3 produced healing of rickets. Plasma phosphate rose on treatment, possibly by a suppression of parathyroid activity. The response to such low doses of 1alpha-OHD3 suggests impaired 1alpha-hydroxylation of 25-hydroxyvitamin D in these patients. A patient with intestinal malabsorption was resistant to high doses of 1alpha-OHD3 by mouth but responded to parenteral administration. A boy with osteopetrosis and the biochemical changes of rickets was resistant to large doses of 1alpha-OHD3 presumably because of failure of osseous response.

Adolescent↗
PubMed1993

The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII).

OBJECTIVE: Some patients with rickets are resistant to vitamin D and its analogues; we therefore assessed whether or not normal mineralization could be achieved in the absence of an intact 1,25(OH)2D3 receptor-effector system, by the use of intravenous high dose calcium infusion, followed by high dose oral calcium. DESIGN: We studied two patients with vitamin D dependent rickets type II and with absent responses to either high dose calcitriol or to oral calcium alone. Daily infusions equivalent to up to 1.4 g elemental calcium supplemented with oral phosphate were given for a period of 3.5 months for the elder sister and 2 months in the younger brother. Both patients were then treated by weekly calcium infusions for 5 months, followed by maintenance on oral calcium equivalent to up to 6 g elemental calcium per day. PATIENTS: Two siblings of consanguineous parents, a girl aged 28 months and a boy aged 10 months with vitamin D dependent rickets type II. MEASUREMENTS: Measurements of serum and urine calcium, phosphate and serum alkaline phosphatase were obtained before, during and after the calcium infusions. Twenty-four-hour urinary minerals, electrolytes, creatinine clearance, serum PTH and vitamin D metabolites were measured prior to calcium infusion, then repeated at 2-monthly intervals. Glomerular filtration rate, kidney ultrasound and CT scan were done at 6-monthly intervals. A scalp biopsy was done at the end of i.v. calcium treatment. RESULTS: The daily infusions of calcium supplemented with oral phosphate resulted in biochemical responses with normalization of calcium and phosphate in 3-5 days, and of alkaline phosphatase and PTH in 1.5-2 months. Radiological evidence of healing was seen in 42 days. A total of 3.5 months of daily calcium infusion in the elder sister and 2 months in the younger brother resulted in complete healing biochemically and radiologically, with improvement in height. The patients are under current follow-up, with no evidence of nephrocalcinosis or deterioration of glomerular filtration rate. CONCLUSIONS: (a) The use of intravenous high dose calcium infusions followed by high dose oral calcium is an effective method of treatment of vitamin D dependent rickets type II. (b) The treatment was more effective since it was started early in the course of the disease and led to early healing and better growth with prevention of bone deformities. (c) Early treatment may also lead to improvement in alopecia, the mechanism for which needs to be elucidated. ABBREVIATIONS: 1,25(OH)2D3, 1,25-dihydroxyvitamin D3 (calcitriol); 24-OHase, 25-(OH)D(3),24-hydroxylase; 1 alpha-(OH)D3, 1 alpha-hydroxyvitamin D3; 25(OH)D3, 25-hydroxyvitamin D3; 1 alpha-OHase, 1 alpha-hydroxylase; PTH, parathyroid hormone.

Administration, Oral↗