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At least 163 records · Page 9Linked to original sources
PubMed1976

Origin, diagnosis, and treatment of the dental manifestations of vitamin D-resistant rickets: review of the literature and report of case.

Previous discussions center on early diagnosis, initial treatment, and follow-up therapy for the patient with vitamin D-resistant rickets. Both the medical and dental aspects of treatment for these patients has a long-range effect on the normal developmental patterns. Although treatment is begun at an early age, some rachitic skeletal effects such as minor bowing of the legs and bossing of the skull will invariably be noticed. In patients with controlled rickets the alveolar processes undergo normal development, with apparent normal dental eruption. The poor development and calcification of the alveolus seen in the untreated patient leads to loss of the lamina dura and periodontal ligament of the teeth. Patients with resistant rickets possess a functional dentition, although not without inherent defects. Various degrees of fracture and attrition of enamel can be seen, and hypoplasia of dentin is nearly a universal result. Defects extending to the dentinoenamel junction have been shown in repeated cases. Cementum, because of its close relationship with dentin calcification, also appears abnormal. Pulp tissue may undergo abberations of physiology in resistant rickets, although further work in this respect is needed. With respect to the possible dental pathoses seen in this disease, the dental history of the patient with resistant rickets discussed in this report showed that several of the deciduous teeth, possibly the mandibular left second premolar and right first molar, and definitely the maxillary right second premolar and canine and the mandibular left canine had all undergone pulpal degeneration of apparently unknown causation. In the maxillary right second premolar and the mandibular left canine, enamel fractures were clinically and radiographically apparent. However, the maxillary right canine originally had an acute abscess with no defects other than normal, minimal wear facets. No causative factor for its necrosis could be found. Overt enamel fractures in the maxillary right second premolar and the mandibular left canine may have led to microexposures of the pulp with subsequent bacterial pulpal contamination. Suppuration present in several of the pulps when first entered during endodontic treatment, as well as chronic fistulas in several areas, support the conclusion that contamination by some means does indeed occur.

Abscess↗
PubMed2005

Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus.

The association of hypophosphatemic rickets and epidermal nevus or giant hairy nevus is rare. We report two patients with hypophosphatemic rickets, one associated with epidermal nevus syndrome and the other with giant hairy nevus, and describe their clinical features and variable response to treatment. The abnormal nevus tissue may have contributed to the pathogenesis of hypophosphatemic rickets. We did not find a PHEX gene mutation in these two patients, and the mechanism for their rickets may be different from that in X-linked hypophosphatemic rickets.

Adult↗
PubMed1991

Mineral content of different areas of human dentin in hypophosphataemic vitamin D-resistant rickets.

Calcium, phosphorus, fluoride, sodium, magnesium and zinc estimations were carried out on teeth from a patient with hypophosphataemic vitamin D-resistant rickets (HVDRR) and from a patient with acquired rickets with the aim of determining differences in the composition of dentine in these two types of rickets. Normal deciduous teeth served as controls. Mineral analyses were carried out using an electron probe micro-analyser after carefully polishing the hemisected specimens. After the analyses the specimens were coated with gold-palladium for more detailed SEM studies. The Ca, P, F and Zn contents of the calcospherites were normal, while there was more Na and less Mg in the dentine of HVDRR teeth than of controls. The significance of this remains unexplained. The mineral content of the interglobular spaces was very limited, but there was more Zn in these than in other parts of the HVDRR teeth, in the acquired rickets teeth or in the control teeth. The excess of Zn in the interglobular spaces is thought to have an effect on the mineralisation process in HVDRR teeth. The globular nature of HVDRR teeth is thought to be genetically controlled and the result of a reduction in the number of calcification nuclei. The globular nature of the HVDRR teeth was not due to lack of Ca and P, as the serum levels of these minerals were maintained within normal limits during tooth development by controlled phosphate supplementation. Because in acquired rickets the globules were seen at the developmental stage that the teeth had reached when the nutritional disturbance occurred, the fault in mineralisation is thought to be different from that in HVDRR teeth.(ABSTRACT TRUNCATED AT 250 WORDS)

Calcium↗
PubMed1994

[1,25-Dihydroxyvitamin D receptor and vitamin-resistant rickets].

Numerous research works have been performed following the identification of 1,25-dihydroxyvitamin D in the early 1970s which concern the synthesis and role of this hormonal form of vitamin D, as well as the structure and function of its receptor. At the same time, a peculiar type of rickets resulting from a resistance to this hormone, has been described the so-called "pseudo-deficiency rickets type II". Although exceptional, pseudo-deficiency rickets type II has enabled studies which led to the description of several alterations in the vitamin D receptor chromosomal gene responsible for tissue resistance to 1,25-dihydroxyvitamin D. This article reviews present knowledge on the physiological role of 1,25-dihydroxyvitamin D, the structure and function of is receptor, the pathological consequences of its alteration leading to pseudo-deficiency rickets type II, and the reported therapeutic attempts to cure this form of rickets.

Calcitriol↗
PubMed1993

The periphysis and its effect on the metaphysis. II. Application to rickets and other abnormalities.

The metaphyseal collar due to the periphysis is lost (in 98% of 49 subjects) as an early sign of rickets and returns with recovery. The term "pseudophysis" refers to that unossified metaphyseal osteoid and cartilage as in rickets. The collar is intact in metaphyseal chondrodysplasias (a helpful sign in differential diagnosis from rickets), is shortened in achondroplasia, and frequently is spared in osteomyelitis, luetic bone disease, and Caffey infantile cortical hyperostosis. The periphyseal bone bark is thinned, but often apparent, in rickets, and is not thinned in cases of tyrosinosis and phenylketonuria.

Bone Diseases, Developmental↗
PubMed1977

Seizures and demineralization of the skull. A diagnostic presentation of rickets.

We present four infants with seizures, and one without seizures, in whom the diagnosis of rickets was first suggested because of a demineralized skull. A review of the skull films in all of our patients with rickets showed that 20 of 25 (80%) showed demineralization. Demineralization of the skull is a common and important feature of rickets. Furthermore, as demonstrated by our cases, it may be the first clue to the presence of rickets in certain infants.

Alveolar Process↗
PubMed1995

Tumour-induced rickets: a case report and review of the literature.

UNLABELLED: Hypophosphataemic rickets was diagnosed in a 6-year-old boy with a negative family history. After 16 years of medical treatment he developed a malignant sarcoma of the right distal thigh. Removal of the tumour by high amputation of the leg resulted in disappearance of the phosphate leak. In spite of surgery and chemotherapy, the patient died due to extensive lung metastases. Retrospective analysis of the initial X-ray films showed a benign lesion on the lateral side of the right distal femur. This lesion is believed to be at the origin of the rickets. This is the first paediatric case reported with malignant degeneration of a benign tumour causing rickets. CONCLUSION: Patients with the classical hallmarks of X-linked, familial hypophosphataemic rickets but no affected family members should have a careful periodic search for a tumour, even years after onset of the disorder.

Child↗
PubMedDate not supplied

Metabolic studies in congenital vitamin D deficiency rickets.

Congenital rickets in 3 newborns of mothers with advanced nutritional osteomalacia, healed with maternal breast milk feeding when mothers alone were given calcium supplements and 7.5 mg of intravenous D2 and the mother baby pair protected from sunlight. Maternal plasma biochemistry indicated more severe vitamin D deficiency compared to their newborns (intrauterine foetal priority). The first dose of 7.5 mg of vitamin D3 and calcium supplements to mother healed osteomalacia but did not appear to heal the rickets of their breast fed infants (extrauterine maternal priority for vitamin D). A second dose given at 3 months interval healed the rickets in their infants and the biochemistry of the mother and baby returned towards normal. Congenital rickets developed when maternal bone mineral and vitamin D stores had been completely exhausted. Raised IPTH levels in the newborn suggested that foetal parathyroids were responsive to hypocalcaemic stimulus.

Adult↗
PubMedDate not supplied

Nutritional and metabolic rickets.

Nutritional rickets is caused by vitamin D deficiency due to lack of exposure to sunlight. Neonatal rickets occurs only in infants born to mothers with very severe osteomalacia. Calcium deficiency alone does not cause mineralisation defects. It only causes osteoporosis and secondary hyperparathyroidism with raised plasma, 1,25 (OH)2D and osteocalcin. Low 25-OHD, increased IPTH, increased alkaline phosphatase in plasma and decreased calcium and increased hydroxyproline in urine are diagnostic of rickets. Low or undetectable plasma levels of 25-OHD, in presence of high plasma 1,25(OH)2D and IPTH are often observed during treatment with vitamin D. Even the marginal intakes of fluoride (> 2.5 mg/day) cause rickets in calcium deficient children. Indian children often need high dose of vitamin D due to severely depleted D stores, high IPTH and severe bone disease (radiologic and histomorphometric) for treatment.

Calcium, Dietary↗
PubMed2003

A girl with rickets and nephrocalcinosis.

A 5-year-old girl presented with short stature. She was found to have rickets due to renal phosphate wasting and nephrocalcinosis. Serum parathyroid hormone was suppressed, 25-OH vitamin D was within the normal range, and 1,25-(OH)(2 )vitamin D was elevated. In addition, she had hypercalciuria, proteinuria, which was partially tubular in origin, and a reduced glomerular filtration rate of 58 ml/min per 1.73 m(2). Treatment with phosphate supplements resulted in healing of the rickets and normalization of the serum 1,25-(OH)(2 )vitamin D level. This patient is an example of hypercalciuric rickets, most likely due to an inherited disorder of phosphate metabolism. Hypercalciuric rickets can be inherited as an autosomal recessive as well as autosomal dominant trait.

Calcium↗
PubMed1976

Rickets in low birth weight infants receiving total parenteral nutrition.

Development of rickets in association with parenteral nutrition is described in four premature infants having gestational ages of 26-31 wk. In the first two infants there was a documented deficiency of vitamin D, but in the second two adequate supplementation was achieved. Vitamin D, whose primary action is to facilitate intestinal absorption of calcium, may also be a hormone of prime necessity in infant bone formation. Conversion of precursor cholecalciferol to the active form of hormone, 1,25-DHCC, requires intermediate hydroxylation by the liver. The premature infant liver may be deficient in its ability to carry out this step of metabolism, and in normal intrauterine existence the fetus may receive 1,25-DHCC, the active metabolite, from the mother. Calcium intake in these infants was far below that achieved by fetuses of comparable age in utero, even though in excess of that provided by usual premature infant oral formulas. Although calcium deficiency has not been incriminated as a cause of rickets in the past, it is possible that in very tiny premature infants rapid growth requirements lead to a relative calcium deficiency which may be manifested as uncalcified osteoid. Until the mechanism of the formation of rickets in small premature infants is clarified it is recommended that supplemental calcium and vitamin D be given to all premature infants receiving parenteral nutrition, and that periodic x-rays be obtained to detect the development of rickets.

Calcium↗
PubMed1991

Rickets in Nigerian children: a consequence of calcium malnutrition.

Eleven Nigerian children with clinically and radiologically proven rickets were assessed biochemically. The children had low or low normal concentrations of total and corrected calcium, and elevated plasma alkaline phosphatase (ALP) activity, but normal plasma phosphate concentrations. Their serum 25-hydroxyvitamin D (25-OHD) and 1,25-dihydroxyvitamin D (1,25-(OH)2D) concentrations were not significantly different from those in controls, but the ratio of 1,25-(OH)2D to 25-OHD was significantly greater than that in controls. Parathyroid hormone (PTH) concentrations were greater in rachitic children, and there was a significant correlation between 1,25-(OH)2D and PTH concentrations. Osteocalcin concentrations in rachitic children were not significantly different from those in controls, but they were markedly elevated in the three patients with the highest 1,25-(OH)2D and PTH concentrations. One child, from whom a sample of bone (from a corrective osteotomy) was available for histological examination, showed markedly thickened osteoid seams, characteristic of rickets. All the rachitic children had a calcium intake of less than 150 mg daily. Treatment of these rachitic children with calcium gluconate (1 g/d) led to clinical, radiological, and biochemical healing of rickets. We conclude that rickets in Nigerian children is not due to vitamin D deficiency, but to a lack of calcium. This observation has implications regarding the pathogenesis, treatment, and prevention of rickets/osteomalacia in Nigeria and possibly other African and tropical countries.

Alkaline Phosphatase↗
PubMed1991

Bone mineral density of the spine and radius shaft in children with X-linked hypophosphatemic rickets (XLH).

X-linked hypophosphatemic rickets (XLH) is characterized by inadequate skeletal mineralization. The bone mineral density (BMD) of the radius shaft and the lumbar spine was determined in 13 children with XLH. Ten patients were on treatment, whereas three patients had discontinued treatment 20-32 months prior to this study. Two of them had radiological evidence of rickets. The radius shaft BMD was significantly diminished: Z score was -1.33 +/- 0.89 (P less than 0.001), while the BMD of lumbar spine was significantly augmented (Z score +1.95 +/- 1.17, P less than 0.001). A positive correlation was found between the Z scores for the BMD of the radius shaft and spine. The two patients with overt rickets had lower radius shaft BMD values and a lesser increment of BMD of the spine. The BMD deficit of cortical bone may be related to the lack of efficacy of the treatment and/or to an intrinsic defect of the bone on this disease. On the other hand, the augmented BMD of the lumbar spine might reflect the overabundance of partially mineralized osteoid. The determination of the BMD of the radius shaft by SPA was a sensitive method for detecting abnormalities of the bone mass in XLH patients under treatment without radiological signs of rickets.

Absorptiometry, Photon↗
PubMed1987

High levels of childhood rickets in rural North Yemen.

Despite a warm sunny climate, rickets is extremely common in children living in an isolated mountainous area of North Yemen. In a small township the overall prevalence amongst children under five years attending for vaccination was 27%. The condition was most common at the end of the first year and had disappeared by the fifth year. Marasmus was commonly associated with rickets. Children from the rural villages outside the township had significantly lower rates of rickets. Several factors may contribute to the very high rates of rickets in rural Yemen. However, lack of exposure to sunlight as a consequence of particular cultural practices is likely to be the most important. The major social and behavioural factors which restrict the young child access to sunlight are outlined, and possible remedies discussed.

Child↗
PubMed2005

Pediatric hypocalcemic seizures: a case of rickets.

Although cases of Vitamin D-deficient Rickets have declined since the Industrial Revolution, certain populations remain at risk. Risk factors for developing vitamin D-deficient Rickets include breast-feeding without formula or vitamin supplementation, very dark skin and inadequate exposure to sunlight. We describe a case of Rickets in a breastfed infant with dark skin who presented with hypocalcemic seizures. The pathophysiology of Rickets is briefly described along with the emergency management of infants presenting with hypocalcemic seizure.

Administration, Oral↗
PubMed1994

Single-day therapy for nutritional vitamin D-deficiency rickets: a preferred method.

A single-day large dose of vitamin D (stosstherapy) was given to 42 patients with nutritional vitamin D-deficiency rickets. Stosstherapy is safe and effective, obviates problems with compliance, and, by evoking a response in 4 to 7 days in nutritional rickets, becomes a valuable diagnostic aid for patients in whom initial findings do not clearly distinguish nutritional rickets from familial hypophosphatemic rickets.

Administration, Oral↗
PubMed2002

Vitamin D metabolism, rickets, and osteomalacia.

Rickets in the growing child or adolescent and osteomalacia in the adult develop in a variety of clinical situations and have in common an absence or delay in the mineralization of growth cartilage and in newly formed bone collagen. Classically, deficiency of vitamin D, which is essential for the absorption of dietary calcium, has been the major cause. However, rickets is also seen as a result of hereditary defects in critical vitamin D signaling molecules. Disturbances of phosphate metabolism can also lead to signs of rickets and osteomalacia, notably X-linked hypophosphatemic rickets, and oncogenic osteomalacia. Extrarenal synthesis of 1,25-dihydroxyvitamin D, such as that associated with granulomatous disease, can also lead to disturbances in calcium metabolism, with associated skeletal and nonskeletal changes.

Calcium↗
PubMed2000

Nutritional rickets in African American breast-fed infants.

OBJECTIVE: To analyze the characteristics of infants and children diagnosed with nutritional rickets at two medical centers in North Carolina in the 1990s. STUDY DESIGN: The physical and radiographic findings, calcium, phosphorus, alkaline phosphatase, and 25-hydroxyvitamin D levels of infants and children diagnosed with nutritional rickets at two medical centers were reviewed. Breast-feeding data were obtained from the North Carolina Women, Infants and Children Program (WIC). RESULTS: Thirty patients with nutritional rickets were first seen between 1990 and June of 1999. Over half of the cases occurred in 1998 and the first half of 1999. All patients were African American children who were breast fed without receiving supplemental vitamin D. The average duration of breast-feeding was 12.5 months. The age at diagnosis was 5 to 25 months, with a median age of 15.5 months. Growth failure was common: length was <5th percentile in 65% of cases, and weight was <5th percentile in 43%. CONCLUSION: Factors that may have contributed to the increase in referrals of children with nutritional rickets include more African American women breast-feeding, fewer infants receiving vitamin D supplements, and mothers and children exposed to less sunlight. We recommend that all dark-skinned breast-fed infants and children receive vitamin D supplementation.

Black People↗