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Non-azotemic refractory rickets in Indian children.

In order to examine the etiology of refractory rickets, we evaluated the case records of patients presenting between 1990 and 2002. Subjects with impaired renal functions were excluded. Of 131 patients, 25.9 % each had hypophosphatemic rickets and distal renal tubular acidosis (RTA), 19.6 %vitamin D dependent rickets (VDDR), 11.3 % proximal RTA, 9.1 % liver disease and 6.1 % malabsorption. A significant proportion of patients with VDDR and proximal RTA showed deformities in the first year of life, whereas those with distal RTA and hypophosphatemic rickets presented later. Patients with hypophosphatemic rickets had predominant involvement of lower limbs; hypercalciuria was found in 4. Distal RTA was associated with marked rickets and normal levels of alkaline phosphatase. Hypophosphatemia and low tubular reabsorption of phosphate, though characteristic of hypophosphatemic rickets, was also seen in patients with VDDR (19.2%) and distal RTA (17.6 %). Our findings suggest that application and interpretation of appropriate investigations are useful in determining the cause of non-azotemic refractory rickets allowing initiation of specific therapy.

Acidosis, Renal Tubular↗

The importance of limited exposure to ultraviolet radiation and dietary factors in the aetiology of Asian rickets: a risk-factor model.

Regional variation in the prevalence of Asian rickets was examined in Coventry, Bradford and Glasgow. Records of 152 weeks of daylight outdoor exposure were obtained from 104 Glasgow Asian children, 53 of whom had been treated for rickets. Records of seven-day weighed dietary intake were obtained from 84 Asian children, 43 of whom had been treated for rickets. There was a marked north-south gradient in the prevalence of Asian rickets. In all cases of severe rickets with deformity the child was vegetarian. Severe rickets was associated with lower intake of meat, higher intake of chapati and lower daylight outdoor exposure values than in normal children. Multivariate analysis employing a combination of these variables provided good separation between rachitic and normal groups. A risk-factor model is proposed which suggests that regional variation in the prevalence of rickets among Asian communities in Britain is mainly determined by the effects of latitude and the nature of the urban environment on available ultraviolet radiation. Where UV radiation is restricted, individual propensity to rickets within a given Asian community is mainly determined by dietary factors.

Adolescent↗

Ossification of the posterior longitudinal ligament in vitamin D-resistant rickets: case report and review of the literature.

STUDY DESIGN: A case report of cervical myelopathy caused by ossification of the posterior longitudinal ligament in a patient with vitamin D-resistant rickets is presented together with a review of literature. OBJECTIVE: To report the diagnosis of ossification of the posterior longitudinal ligament in a white woman with vitamin D-resistant rickets. SUMMARY OF BACKGROUND DATA: The association between ossification of the posterior longitudinal ligament and untreated vitamin D-resistant rickets has been reported in Japan, but infrequently in white populations. In whites, ossification of the posterior longitudinal ligament is closely associated with diffuse idiopathic skeletal hyperostosis. A clear association between ossification of the posterior longitudinal ligament and vitamin D-resistant rickets in white populations has not yet been established. METHODS: The medical record and imaging studies of a patient treated at the authors' institution for cervical myelopathy caused by ossification of the posterior longitudinal ligament in the setting of treated vitamin D-resistant rickets were reviewed. A Medline search of the medical literature between 1966-1999 was performed to identify pertinent studies and similar case reports. RESULTS: The occurrence of spinal stenosis in untreated adults with vitamin D-resistant rickets has been reported in all regions of the spine in Japanese patients. The association between ossification of the posterior longitudinal ligament and untreated vitamin D-resistant rickets was first reported in Japan, where ossification of the posterior longitudinal ligament is endemic. This association may be incidental, because reports on ossification of the posterior longitudinal ligament in whites are not as frequent as in Japanese, reflecting the higher prevalence of this condition in Japan. CONCLUSION: Ossification of the posterior longitudinal ligament and ossification of the posterior longitudinal ligament associated with deranged calcium or phosphate metabolism may be different pathologic entities sharing a common outcome. Adequate treatment of vitamin D-resistant rickets may not always prevent or reverse ossification of the posterior longitudinal ligament.

Bone Density↗

Skeletal manifestations of rickets in infants and young children in a historic population from England.

Gross and radiographic changes characteristic of inadequate bone mineralization due to rickets are described in 21 immature skeletons from a 19th century urban population from Birmingham, England. The aims of the study are as follows: to evaluate and if possible augment existing dry-bone criteria for the recognition of rickets in immature skeletal remains; to investigate the value of radiography for the paleopathological diagnosis of rickets; and to compare and contrast the expression of rickets in this group with that previously documented for a rural agrarian population from Wharram Percy, England. Some gross skeletal signs of rickets which were not previously well-documented in paleopathological studies are noted. The worth of radiography for evaluating structural changes to both cortical and trabecular bone in the disease is demonstrated, and features useful for the interpretation of vitamin D deficiency are discussed. The pattern of skeletal elements affected and the severity of changes differs in the Birmingham group from that seen in the comparative rural population. It is emphasized that a variety of factors may influence the expression of rickets in paleopathological material, including rate of skeletal growth, age cohort affected, and intensity of vitamin D deficiency. Nevertheless, careful analysis, not only of the frequency of rickets but also of the degree of severity of lesions and the patterning with respect to skeletal elements affected, may enable more nuanced understanding of the biocultural context of the disease in earlier populations.

Bone and Bones↗

Serum osteocalcin has limited usefulness as a diagnostic marker for rickets.

UNLABELLED: Serum alkaline phosphatase (AP), the bone fraction of which is secreted by osteoblasts, is elevated in rickets. Both normal and elevated levels of serum osteocalcin (OC), a bone-specific marker secreted by osteoblasts, have been reported in rickets. Expression of the OC gene is enhanced by 1,25-dihydroxyvitamin D (1,25(OH)2D) in experimental models. This study assessed serum OC levels in 14 controls and 41 patients with active rickets divided into a phosphopenic (n = 20) and a calciopenic (n = 21) group. Phosphopenic subjects were older (9.5 versus 5.7 years, P = 0.03) with higher median serum calcium level (2.35 versus 2.16 mmol/l, P = 0.0002) and serum 25-hydroxyvitamin D level (15.4 versus 10.4 ng/l, P = 0.003); and lower serum phosphate (0.80 versus 1.51 mmol/l, P = 0.0001), serum 1,25(OH)2D (43.0 versus 95.6 pg/ml, P = 0.0001) and intact serum parathyroid hormone level (45.0 versus 141.5 ng/l, P = 0.01) than calciopenic subjects. There were no differences in median serum AP (774 versus 1430 IU/l, P = 0.17) and OC (14.5 versus 13.4 ng/ml, P = 0.6) between the two groups. The mean OC value for the 41 rickets subjects was 15.1 +/- 6.2 ng/ml and 17.4 +/- 7.8 ng/ml for the 14 control subjects. In the face of markedly elevated serum AP levels in the rickets subjects, all of the serum OC values in the study fell within two standard deviations of the mean for normals. There was no association between serum OC and 1,25-(OH)2D in either the phosphopenic or the calciopenic group. CONCLUSION: These results show that serum osteocalcin levels are not elevated in all forms of active rickets and that, unlike serum alkaline phosphatase, serum osteocalcin cannot be used in the diagnosis of rickets.

Adolescent↗

Cardiac functions in children with vitamin D deficiency rickets.

Nutritional deficiency of vitamin D is common in developing countries as a result of both inadequate diet and exposure to ultraviolet light. The most striking biochemical finding in this illness is hypocalcemia. Reduction in serum calcium level may affect ventricular contraction. The purpose of this study was to evaluate prospectively left ventricular function in a group of 27 infants diagnosed as having rickets. Electrocardiograms and echocardiographic studies were undertaken in all patients. A group of ten healthy infants was used as a control for the echocardiographic examinations. Patients were divided into three groups according to the biochemical classification of rickets. There were eight patients in group I, nine in group II, and ten in group III. Abnormal electrocardiographic findings were noted in four infants in group I, three in group II, and six in group III before treatment of the rickets. These changes resolved following treatment. Echocardiographic studies revealed left ventricular dysfunction in the pretreatment stage. The most striking echocardiographic finding is the increase in the ratio of interventricular septal thickness to left ventricular posterior wall thickness in eight patients from group III. This returned to normal after treatment of the rickets. This study has demonstrated echocardiographic evidence of left ventricular dysfunction in children with rickets. These abnormalities were not, however, sufficiently severe to be associated with clinical signs of cardiac failure. Cardiomyopathy may develop in rickets, especially in the third stage of the disease, and this finding may return to normal following adequate treatment of the rickets.

Chi-Square Distribution↗

Prematurity as a predictor of rickets in Shanghai infants.

The association between prematurity and the prevalence of rickets was examined among 2,227 infants in Shanghai, China. The prevalence of rickets during subjects' first 18 months of life was 6.8% in boys and 4.6% in girls. Pre-term infants were more likely to have rickets than term (> or = 37 weeks gestation) infants, 9.4% versus 5.2%. Birth weight was inversely related to the prevalence of rickets, 15.8% in the < 2,500 g group, 7.1% in the 2,500-2,999 g group, 4.9% in the 3,000-3,499 g group, and 4.2% in the > or = 3,500 g group. After adjusting for covariates including sex, average family income and birth weight, the odds ratio for rickets in pre-term infants was 1.55 compared with term infants. The inverse relationship between birth weight and rickets remained significant after taking sex, family income and pre-term birth into account. In addition, infants of the lower income families were more likely to have rickets than those of higher income families.

Birth Weight↗

Florid and subclinical rickets among immigrant children in Glasgow.

200 Asian 300 African, Chinese, or Scottish children were examined for clinical, biochemical, and radiological evidence of vitamin-D deficiency. Among the Asians there were 10 with florid rickets and 15 with subclinical rickets. Among the African, Chinese, and Scottish children there were no cases of florid rickets and only 7 cases of subclinical rickets (3 African, 3 Chinese, and 1 Scottish). Loss of metaphyseal definition is considered to be the radiological pattern of minimal active rickets and metaphyseal bands to represent the healing stage. Serum 25-hydroxycholecalciferol concentrations were low in clinical and subclinical minimal active rickets although there was some overlap with the wide range found in the "normal" group. Elevated serum-alkaline-phosphatase levels alone should not be regarded as indicating vitamin-D deficiency. The continuing prevalence of rickets in Asian children and in particular among schoolchildren warrants immediate action, which is long overdue.

Africa↗

Case-control study of the role of nutritional rickets in the risk of developing pneumonia in Ethiopian children.

BACKGROUND: Pneumonia is the most important cause of morbidity and mortality in children aged under 5 years worldwide. Studies in developing countries have suggested an association between nutritional rickets and pneumonia. Since both nutritional rickets and pneumonia are common in Ethiopia, we did a case-control study to determine the role of nutritional rickets in the development of pneumonia. METHODS: Cases were children younger than 5 years admitted to the Ethio-Swedish Children's Hospital during a 5-year period with a diagnosis of pneumonia (n = 521), but data were incomplete for 21 of these and they were not included. Controls (n = 500) were matched for admission within 3 months of cases and age within 3 months and had no evidence of pneumonia. Nutritional, demographic, and clinical and radiographic data for rickets and pneumonia were collected. Matched odd ratios and logistic regression were used to test the significance of the association of rickets and pneumonia. FINDINGS: Rickets was present in 210 of 500 cases compared with 20 of 500 controls (odds ratio 22.11). There were significant differences between cases and controls for family size, birth order, crowding, and months of exclusive breastfeeding (p < 0.05). After correction for these confounding factors by logistic regression, there was still a 13-fold higher incidence of rickets among children with pneumonia than among controls (13.37 [95% CI 8.08-24.22], p < 0.001). INTERPRETATION: Vitamin D or calcium deficiency may be important predisposing factors for pneumonia in children aged under 5 years in developing countries. Efforts to prevent vitamin D deficiency or calcium supplementation may result in significant reductions in morbidity and mortality from pneumonia in these children.

Case-Control Studies↗

A comparison of calcium, vitamin D, or both for nutritional rickets in Nigerian children.

BACKGROUND: Nutritional rickets remains prevalent in many tropical countries despite the fact that such countries have ample sunlight. Some postulate that a deficiency of dietary calcium, rather than vitamin D, is often responsible for rickets after infancy. METHODS: We enrolled 123 Nigerian children (median age, 46 months) with rickets in a randomized, double-blind, controlled trial of 24 weeks of treatment with vitamin D (600,000 U intramuscularly at enrollment and at 12 weeks), calcium (1000 mg daily), or a combination of vitamin D and calcium. We compared the calcium intake of the children at enrollment with that of control children without rickets who were matched for sex, age, and weight. We measured serum calcium and alkaline phosphatase and used a 10-point radiographic score to assess the response to treatment at 24 weeks. RESULTS: The daily dietary calcium intake was low in the children with rickets and the control children (median, 203 mg and 196 mg, respectively; P=0.64). Treatment produced a smaller increase in the mean (+/-SD) serum calcium concentration in the vitamin D group (from 7.8+/-0.8 mg per deciliter [2.0+/-0.2 mmol per liter] at base line to 8.3+/-0.7 mg per deciliter [2.1+/-0.2 mmol per liter] at 24 weeks) than in the calcium group (from 7.5+/-0.8 [1.9+/-0.2 mmol per liter] to 9.0+/-0.6 mg per deciliter [2.2+/-0.2 mmol per liter], P<0.001) or the combination-therapy group (from 7.7+/-1.0 [1.9+/-0.25 mmol per liter] to 9.1+/-0.6 mg per deciliter [2.3+/-0.2 mmol per liter], P<0.001). A greater proportion of children in the calcium and combination-therapy groups than in the vitamin D group reached the combined end point of a serum alkaline phosphatase concentration of 350 U per liter or less and radiographic evidence of nearly complete healing of rickets (61 percent, 58 percent, and 19 percent, respectively; P<0.001). CONCLUSIONS: Nigerian children with rickets have a low intake of calcium and have a better response to treatment with calcium alone or in combination with vitamin D than to treatment with vitamin D alone.

Alkaline Phosphatase↗

Case-control study of breast milk calcium in mothers of children with and without nutritional rickets.

AIM: Despite similarly low calcium intakes and normal vitamin D status, only some Nigerian children develop nutritional rickets. We hypothesized that mothers with children who had developed rickets might have lower breast-milk calcium concentration than mothers with normal children and compared the breast-milk calcium concentration of mothers who had had children with rickets with those who had not (controls). METHODS: We collected breast milk from 35 Nigerian mothers who had previously had children with nutritional rickets. For each case mother, we collected breast milk from three matched control mothers at the same stage of lactation (+/-4 weeks) who had had no children with rickets. Data were collected about parity, stage of lactation, and the infant's intake. The mother's bone density was measured. RESULTS: The mean breast milk calcium concentration of mothers of children with rickets (4.30+/-1.24 mmol/L) was less than that of control mothers (4.65+/-1.03 mmol/L; P=0.034 in multivariate regression controlling for duration of lactation and resumption of menses). Forearm bone mineral content was significantly related to breast milk calcium concentration (r=0.20) after adjusting for height, weight, and bone area (P=0.028). CONCLUSION: Reduced breast-milk calcium concentration may contribute to a reduced calcium intake in infancy and predispose children to nutritional rickets.

Calcium↗

Calcium deficiency and causation of rickets in Ethiopian children.

OBJECTIVE: To assess the role of calcium in the development of clinical rickets among Ethiopian children coming to Jimma Specialised Hospital outpatient, department. DESIGN: Case control study. SETTINGS: Jimma Specialised Teaching Hospital and surrounding urban and rural community in the catchment area. SUBJECTS: One hundred and thirty five under five year old children (30 cases of rickets and 104 non-rachitic cases) who came for paediatric service in Jimma hospital. RESULTS: The mean (+/- SD) level of calcium intake for cases and controls was 664.5 (+/- 102.7) mg and 645.8(+/- 144.4) mg, respectively. There was no statistically significance difference between the two groups in the mean level of calcium intake (t = 0.659, P > 0.05). Generally, in both cases and controls the majority of the study participants were taking calcium below the recommended daily calcium requirement of 800 mg for age group according to Food and Nutrition Board of the National Research Council. When adjusted for different co-variates including age, sex, breast feeding history, history of diarrhoea lasting longer than 14 days and 24 hours calcium intake children and religion, occupation, educational status and residence the mothers/care givers using logistic regression model, frequency of exposure to sunlight ( OR = 1.55, 95%CI: 1.2, 2.0), being from rural areas (OR = 5.0, 95% CI: 1.1, 23.3) and age 12-23 months (OR= 4.5, 95% CI: 1.2, 16.5) were significantly associated with rickets (P < 0.05). CONCLUSION: It was found that Ethiopian children with rickets and without had a low calcium intake as compared to the recommended daily allowance. The fact that there was no difference in the dietary calcium intake between cases and controls and the significant difference observed between case and controls in terms of frequency of exposure to sunlight per week reflects that vitamin D deficiency emanating from poor exposure to radiant energy is the main cause of rickets in Ethiopian children. This study also documented the fact that rural children are at a higher risk of developing rickets as compared to their urban counterparts which could be mainly due to the traditional beliefs and practices more prevalent in the rural areas. Enhancing behaviour change communication about the benefits of exposing children to sunlight is very important in preventing the prevalence of rickets.

Adolescent↗

[Ten years' daily prophylaxis against rickets--review and outlook (author's transl)].

Ten years of experience with daily prophylaxis of rickets brought about isolated knowledge which corrected old mistakes and demands a revision of older attitudes towards the usual prophylaxis. Prophylaxis of vitamin D according to the most modern and reliable knowledge in the best way promotes the growth and mineralisation of the skeleton with dosages of 400 to 800 I.U. smaller or higher dosages are disadvantageous. By observing the above given dosage, rickets and hypercalcaemia are rare and only conceivable under special pathological conditions. The diagnosis of beginning rickets must be well known, otherwise unspecific symptoms of rickets may induce the administration of unnecessarily high amounts of vitamin D. The symptoms of rickets show a gradual increase: the increase of serum alkaline phosphatase precedes the clinical and radiological symptoms. The reliable radiographic deformities of the hand can first be seen at the Ulna, then at the Radius and later at the secondary centers of Metacarpals. Among the relatively reliable clinical symptoms there its first the rosary later the Marfan-sign and eventually the deformation of the long bones. For infants protected by vitamin D, craniotabes as a sign of rickets is completely unreliable as well as the Harrison grooves and rachitic kyphosis. If one observes all these rules and rachitic kyphosis. If one observes all these rules and criterions vitamin D is as reliable in the prophylaxis as in the therapy of vitamin D deficiency rickets.

Germany, West↗

Assessment of nutritional rickets in Western Saudi Arabia.

OBJECTIVE: To explore the role of radiological examination and certain biochemical values in diagnosis and assessing severity of nutritional rickets. METHODS: Cases of symptomatic nutritional rickets (age range between 3-36 months) seen at King Abdul-Aziz University Hospital, Jeddah, Kingdom of Saudi Arabia, during the period 1997-1999 were studied. Clinical examination by the author of the study, determination of calcium (Ca), phosphate (PO4), alkaline phosphates (ALP), hand and wrist x-rays, were performed for all cases. RESULTS: Sixty cases of nutritional rickets were diagnosed within 2 years (incidence of 0.5%), 38.3% of the patients presented with swollen wrist and 28.3% with bowleg. The bone profile at time of diagnosis: Ca=2.33 +/- 0.23, PO4 = 1.47 +/- 0.40 and ALP = 925 +/- 418. Approximately 81.7% of the patients had normal Ca level, 18.3% had low serum PO4 level, 98.3% showed high value of ALP. X-ray studies indicated that, 58.3% of patients had active rickets, 35% had minimal changes, and 6.7% showed healed rickets. Among those having active rickets 20% had low PO4 level, 83% had normal Ca value, and 100% had high ALP. The mean value +/- SD of biochemical values in this group: Ca = 2.34 +/- 0.24, PO4 = 1.45 +/- 0.42, ALP = 1067 +/- 452. The later was significantly higher compared to other groups (P=0.004) but no significant differences were observed between mean values of other parameters. CONCLUSION: Radiological examination and ALP remains essential to confirm clinical diagnosis of rickets and assessment of severity.

Calcium↗

Presentation and predisposing factors of nutritional rickets in children of Hazara Division.

BACKGROUND: There is no local data about rickets available in Hazara Division, while clinical experience suggests that problem exists in this area with abundant sunlight. We carried out this study with an objective to determine presence, presentation and predisposing factors of rickets in pediatrics population of Hazara Division. METHODS: This study was conducted in Department of Pediatrics, Ayub Teaching Hospital Abbottabad over a twelve months period from July 2003 to July 2004. Children from newborns to fifteen years of age presenting with signs and symptoms of rickets were included and information regarding signs, symptoms, predisposing factors (crowded housing, isolated housing with deficient sun exposure, abundant sun but lack of awareness, malnutrition and antenatal factors) and investigations was recorded on a proforma. Diagnosis was based on clinical signs, radiological changes on x-ray wrist joint and biochemical disturbances in serum levels of alkaline phosphatase. calcium, and inorganic phosphorus. RESULTS: Sixty Children with rickets reported during the study period. The main clinical presentation was in the form of delayed motor milestones in 20 (33.33%) children, recurrent lower respiratory infections in 11 (18.33%) children, recurrent diarrhea in 12 (20%) children, and fits in 3 (5%) children. Skeletal changes on clinical examination were present in 40 (66.6%) children. Radiological signs of rickets were present in 51 (85%) children. Symptoms and signs reverted to normal in all cases after vitamin D supplementation. The apparent risk factors were lack of awareness, malnourishment and antenatal factors. CONCLUSION: Rickets is common in Hazara Division presenting with variable signs and symptoms, predisposing the childhood population to different illnesses and skeletal deformities. In the presence of abundant sunshine lack of awareness of exposure to sun, malnutrition and antenatal factors may be the important predisposing factors for development of nutritional rickets.

Child↗

[Association between vitamin D receptor gene polymorphism and vitamin D deficiency rickets].

OBJECTIVE: To explore the genetic susceptibility of children to vitamin D deficiency rickets through studying the association between Vitamin D receptor (VDR) gene polymorphism and vitamin D deficiency rickets. METHODS: One hundred and fifty-nine children (100 boys and 59 girls, aged 0 to 2 years), with new-onset vitamin D deficiency rickets were enrolled. The patients sampled from a community of Jiamusi City, Heilongjiang Province. Seventy-eight healthy age-matched children (46 boys and 32 girls) were used as the controls. VDR gene polymorphism (cleaved by restriction endonuclease Fok I) was analyzed by polymerase chase reaction-restriction fragment length polymorphism (PCR-RFLP). The frequencies of the VDR genotype and allele were compared between the two groups. RESULTS: The frequencies of FF, Ff and ff genotypes were 37%, 51% and 12% in the Rickets group, and 18%, 55% and 27% in the Control group. A significant difference was found in the frequency distribution of the VDR genotype between the two groups (chi(2)(0.01(2))=9.210, chi(2)=13.3880, P < 0.01). In the Rickets group, f allele frequency was lower (37% vs 54%), while the F allele was more common than the Control group (63% vs 46%). CONCLUSIONS: There is an association between the VDR gene Fok I polymorphism and vitamin D deficiency rickets. The individuals with the F allele are more susceptible to vitamin D deficiency rickets.

Female↗

Manganese rickets. A biochemical and stereologic study with special reference to the effect of phosphate.

Oral administration of manganese (Mn) to young rats results in morphologic changes in the growth plate histologically resembling rickets. Previous investigations have indicated that one important factor in the development of Mn rickets is phosphate depletion, because of the precipitation of insoluble manganese phosphate in the gut. In the present study, the morphologic and biochemical changes in rickets induced by phosphate (P) depletion per se as well as in florid and healing Mn rickets were investigated. Rachitic changes were induced in young rats by giving dietary Mn (2%) or by phosphate depletion (0.02% P) for 25 days. The rachitic changes of the proximal tibial growth plate were quantitated with the use of stereologic methods. In addition, the growth plates were dissected into one upper and one lower part and proteoglycans were separately extracted with 4 M guanidine hydrochloride and purified by ultracentrifugation. In rats given phosphate in more than equimolar amounts relative to Mn, the rachitic changes were abolished. When rats with florid Mn rickets were given standard rat food, containing 1% P, rapid healing ensued. Moreover, similar rachitic changes were obtained by phosphate depletion alone. Proteoglycans from the lowermost tissue portion of rachitic growth plates readily formed aggregates with hyaluronic acid and also contained larger chondroitin sulphate chains than controls. Upon healing, these changes tended to normalize. The data support the concept that phosphate depletion is crucial in the pathogenesis of Mn rickets. Also, it seems that the biochemical changes in different forms of rickets are of a similar kind, which further underlines the importance of proteoglycans in enchondral bone formation.

Animals↗

[Vitamin D-resistant rickets].

Vitamin D-resistant rickets is a group of rare disease characterized by lack of reaction to vitamin D administered in doses sufficient to manage patients with rickets caused by vitamin D deficiency. These disorders result from disturbed metabolism and activity of vitamin D and/or disturbed phosphate metabolism. The most common vitamin D-resistant form of rickets is X-linked hypophosphatemic vitamin D-resistant rickets. Other forms are as the following: oncogenic hypophosphatemic osteomalacia, autosomal dominant hypophosphatemic rickets, hereditary hypophosphatemic rickets with hypercalciuria and pseudo-vitamin D deficient rickets type I and II.

Humans↗