vitamin-d-2 and Hypophosphatemia--Familial

Topics: Calcitriol; Ergocalciferols; Humans; Hypophosphatemia, Familial

Topics: 24,25-Dihydroxyvitamin D 3; Administration, Oral; Age Factors; Alopecia; Bone and Bones; Calcitriol; Calcium; Dihydroxycholecalciferols; Ergocalciferols; Female; Humans; Hypophosphatemia, Familial; Male; Minerals; Pedigree; Phosphorus; Tooth Abnormalities

Topics: Calcitriol; Chronic Kidney Disease-Mineral and Bone Disorder; Ergocalciferols; Female; Genes, Dominant; Genetic Linkage; Humans; Hypophosphatemia, Familial; Kidney Tubules, Proximal; Male; Phosphates; X Chromosome

A rapidly growing understanding of the biochemical and physiological processes that underlie the metabolism of vitamin D has provided new insights into the pathogenesis of oestomalacia. Many of the vitamin D--resistant osteomalacia syndromes can now be explained on the basis of defects in the metabolic conversion of vitamin D to the biologically active dihydroxylated metabolite 1,25(OH)2D and perhaps, in some instances, to impairement of the actions of 1,25(OH)2D on target tissues. The availability of this new information has made possible the synthesis of 1-hydroxylated forms of the vitamin for therapeutic use in states of vitamin D resistance. Although many questions regarding the pathogenesis and most effective approaches in the management of osteomalacia remain unanswered, considerable progress has been made in this direction as a result of continued research on the subject.

Topics: Bone Neoplasms; Chemical Phenomena; Chemistry; Cholecalciferol; Dihydroxycholecalciferols; Ergocalciferols; Giant Cell Tumors; Humans; Hydroxycholecalciferols; Hypoparathyroidism; Hypophosphatemia, Familial; Kidney Failure, Chronic; Metabolism, Inborn Errors; Nephrectomy; Osteomalacia; Phosphates; Pseudohypoparathyroidism; Vitamin D; Vitamin D Deficiency

Topics: Anticonvulsants; Bone and Bones; Bone Diseases; Calcium; Cell Membrane Permeability; Cholecalciferol; Cholesterol; Ergocalciferols; Gastrointestinal Diseases; Humans; Hypoparathyroidism; Hypophosphatemia, Familial; Intestinal Mucosa; Kidney; Kidney Failure, Chronic; Parathyroid Hormone; Sarcoidosis; Skin; Vitamin D

Topics: Aortic Valve Stenosis; Calcium; Calcium Metabolism Disorders; Cholecalciferol; Ergocalciferols; Female; Humans; Hydroxycholecalciferols; Hypercalcemia; Hypophosphatemia, Familial; Infant; Kidney; Nutritional Requirements; Pregnancy; Skin; Vitamin D; Vitamin D Deficiency

X-linked hypophosphatemic rickets (XLH) is one of the most common causes of rickets in infancy and childhood. Combination therapy of vitamin D and phosphate is generally used for patients with XLH. Effect of treatment of vitamin D and phosphate during childhood on final height of XLH has to be elucidated in Japanese. There have been only three Caucasian studies on final height of XLH with treatment since childhood. Purpose of this study is to report adult height and therapeutic effect of 22 Japanese participants (5 males, 17 females) with XLH who were treated with phosphate (33-200 mg/kg/day as phosphorus divided into 3 or 4 doses) and vitamin D (vitamin D2 or 1alpha-hydroxyvitamin D3) for more than five years and evaluate effect of the treatment on the final height retrospectively. Final height (FHt) for all participants was -1.69+/-11.11 SD. FHt (-1.69+/-1.11 SD) was significantly higher than height at the initiation of treatment (-2.38+/-0.88 SD) for all participants (P<0.01). In conclusion, combination therapy of vitamin D and phosphate improved final height of Japanese patients with XLH as is similar to previous Caucasian studies.

Topics: Adult; Body Height; Ergocalciferols; Female; Follow-Up Studies; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Japan; Male; Phosphates; Regression Analysis; Vitamin D

Nephrocalcinosis (NC) detected by ultrasound is a recognized abnormality for some patients with X-linked hypophosphatemia (XLH) who received vitamin D2 and inorganic phosphate therapy, but is commonly observed in XLH patients treated with 1,25-dihydroxyvitamin D3 and inorganic phosphate supplementation. Nevertheless, long-term follow-up of kidney function in XLH patients with NC detected ultrasonographically has not been reported. We investigated two women with XLH, ages 31 (patient 1) and 39 (patient 2) years, each of whom had suffered at least one documented episode of vitamin D2-induced hypercalcemia and renal azotemia during childhood. Patient 2 had also been treated with inorganic phosphate. No medications for XLH had been taken during adulthood. Renal ultrasonography at our institution demonstrated marked bilateral medullary NC in both women. No other explanation was found for their NC that apparently occurred several decades earlier from medical therapy for XLH. Detailed studies (including creatinine clearance, beta2-microglobulin excretion, and fasting urinary osmolality and acidification) revealed no impairment of kidney function in either patient. Our findings indicate that subradiographic medullary NC acquired during medical therapy for XLH may persist for decades, but with no adverse renal sequelae. Definitive (long-term) assessment of kidney function in the XLH population with NC, however, will be necessary to fully understand the risk of current medical treatment for this most common heritable form of rickets.

Topics: Adult; Ergocalciferols; Family Health; Female; Humans; Hypophosphatemia, Familial; Kidney; Kidney Diseases; Kidney Medulla; Nephrocalcinosis; Time Factors; Uremia

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.

Topics: Administration, Oral; Calcium; Capsules; Child; Child, Preschool; Drug Administration Schedule; Ergocalciferols; Humans; Hyperparathyroidism, Secondary; Hypocalcemia; Hypophosphatemia, Familial; Infant; Phosphates; Rickets; Vitamin D; Vitamin D Deficiency

The treatment of X-linked hypophosphatemia (XLH) consists of phosphate and vitamin D3 derivatives. Transient hypercalciuria and hypercalcemia are well-known signs of vitamin D intoxication. Despite urinary calcium excretion control, the danger of nephrocalcinosis in treated patients has been emphasized. It has recently been suggested that hyperoxaluria might be a causative factor of nephrocalcinosis other than calcium in phosphate-treated XLH patients. We measured urinary oxalate and phosphate excretion in 12 patients with the syndrome of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) receiving only oral phosphates and in 5 XLH patients receiving both oral phosphates and vitamin D. No correlation was found between the dosage of phosphate supplements or urinary phosphate excretion and urinary oxalate excretion, in either group of patients. Nephrocalcinosis, presenting as hyperechogenicity of the medullary pyramids, was found in 2 of the 5 XLH patients and only in 2 HHRH patients who had been treated with excessive doses of vitamin D2 and calcium, prior to the true diagnosis being established. We conclude: (1) hyperoxaluria is not a cause of nephrocalcinosis in phosphate-treated patients with hereditary hypophosphatemic rickets; (2) prolonged phosphate treatment alone does not induce nephrocalcinosis in HHRH patients, and (3) we believe that in XLH patients, nephrocalcinosis is essentially due to vitamin D overdosage at some stage, or noncompliance in phosphate intake, leading to repeated undetected hypercalciuric periods.

Topics: Adolescent; Adult; Calcium; Child; Child, Preschool; Ergocalciferols; Female; Humans; Hyperoxaluria; Hypophosphatemia, Familial; Infant; Male; Nephrocalcinosis; Phosphates

We report the development of severe tertiary hyperparathyroidism in three girls treated for familial hypophosphatemic rickets and characterize parathyroid function in vivo and in vitro. All patients had been previously treated with relatively large doses of inorganic phosphorus (125 mm/day) and ergocalciferol or calcitriol for several years and had radiographic evidence of long-standing hyperparathyroidism. Even in the presence of extremely elevated PTH levels, oral phosphate lowered serum calcium levels in vivo and further stimulated PTH secretion. Profound multiglandular parathyroid hyperplasia was found in each patient at surgery. Examination of the secretory characteristics of the excised parathyroid tissue revealed that either relatively high calcium concentrations were generally needed to suppress PTH secretion or PTH secretion was not suppressible. Caution is recommended when relatively large doses of phosphate are used to treat familial hypophosphatemic rickets.

Topics: Calcitriol; Calcium; Child; Dose-Response Relationship, Drug; Ergocalciferols; Female; Hand; Humans; Hyperparathyroidism; Hypophosphatemia, Familial; Parathyroid Glands; Parathyroid Hormone; Phosphates; Radiography; Rickets

The effects of different treatment regimens and the influence of parental height on the statural growth of 40 patients with hereditary vitamin D-resistant hypophosphatemic rickets were investigated. Three treatment regimens, each with oral phosphate, were used: vitamin D (0.5 to 2 mg/day), calcidiol (50 to 200 micrograms/day), and 1 alpha-hydroxyvitamin D3 (1 to 3 micrograms/day). Mean duration of follow-up was 9.5 +/- 5.1 years. The results show that (1) there was no acceleration of growth before puberty for the majority of children treated with vitamin D (12/16) or calcidiol (13/15), whereas 1 alpha-hydroxyvitamin D3 promoted catch-up growth in 10 of 16 patients; (2) height gain during puberty was normal, irrespective of the treatment; (3) most vitamin D-treated male and female subjects and calcidiol-treated male subjects had short adult stature, but the majority (75%) of the 1 alpha-hydroxyvitamin D3-treated groups had normal stature; (4) parental stature had little influence on the adult height of male subjects, but that of affected girls was positively correlated (p less than 0.002) with mid-parental height. These results demonstrate that 1 alpha-hydroxyvitamin D3 is superior to vitamin D or calcidiol for improvement of stature of patients with hypophosphatemic vitamin D-resistant rickets, and indicate the importance of parental height in determining the adult height of affected girls.

Topics: Body Height; Child, Preschool; Cholecalciferol; Ergocalciferols; Female; Growth; Humans; Hypercalcemia; Hypophosphatemia, Familial; Male; Parathyroid Hormone; Parents; Phosphates; Phosphorus; Puberty; Retrospective Studies; Vitamin D

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.

Topics: Adolescent; Bone and Bones; Calcium; Ergocalciferols; Humans; Hypophosphatemia, Familial; Male; Phosphates; Rickets

Topics: Child; Ergocalciferols; Female; Hepatolenticular Degeneration; Humans; Hypophosphatemia, Familial; Penicillamine

We studied the presentation and results of medical therapy in 25 children with sex-linked dominant hypophosphatemic rickets. The average age at diagnosis was 3.8 years. Reasons for the delay included misdiagnosis and failure to recognize the normal range of serum phosphorus levels in children. Early diagnosis and treatment (before age 1) was associated with normal alignment of the lower limbs. Combination therapy with phosphate and vitamin D2 improved growth and bone mineralization, but did not change the height percentile or limb alignment. Limited use of calcitriol (1,25-dihydroxyvitamin D3) was not helpful in the adolescent but was associated with limited height increase in two younger children. Early diagnosis and medical therapy should prevent bowing of the legs.

Topics: Adolescent; Calcitriol; Child; Child, Preschool; Ergocalciferols; Female; Humans; Hypophosphatemia, Familial; Male; Phosphates

Two children with X-linked dominant hypophosphatemic rickets treated with vitamin-D metabolites and phosphate supplementation, for prolonged periods, developed hyperparathyroidism with nephrocalcinosis. Calcium infusion tests were performed in both. In one patient, the initial test was done two weeks after all treatment was stopped. Only moderate decrease in the degree of the phosphaturia was recorded. However, a repeat test, performed after all medications were withheld for another four weeks, showed normal anti-phosphaturic response, and she continued to be treated conservatively. In the other patient, the test was done five weeks after withholding treatment. Failure to suppress the phosphaturia provided strong support for the diagnosis of tertiary hyperparathyroidism. He underwent total parathyroidectomy and the parathyroid histology confirmed the diagnosis. In both, control of parathyroid activity stopped the deterioration in kidney function and improved the response of the basic disorder to treatment. It is concluded that in patients with X-linked dominant hypophosphatemic rickets, the calcium infusion test is useful for the differentiation between secondary-reversible and tertiary-irreversible hyperparathyroidism. To avoid continued stimulation of the parathyroid glands by phosphate administration, we recommend that such calcium infusion test be performed and interpreted after at least six weeks have elapsed without phosphate or vitamin-D administration.

Topics: Adolescent; Calcium; Child; Child, Preschool; Ergocalciferols; Female; Humans; Hyperparathyroidism; Hypophosphatemia, Familial; Kidney Calculi; Male; Parathyroid Glands; Phosphates; Rickets; X Chromosome

Topics: Adolescent; Calcification, Physiologic; Calcitriol; Child; Child, Preschool; Ergocalciferols; Female; Humans; Hypophosphatemia, Familial; Male; Osteocytes; Periosteum; Phosphates

Topics: Ergocalciferols; Female; Humans; Hypophosphatemia, Familial; Infant; Male; Parenteral Nutrition; Parenteral Nutrition, Total; Radiography

Topics: Adolescent; Adult; Aged; Bone and Bones; Calcifediol; Calcitriol; Calcium; Ergocalciferols; Female; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Male; Middle Aged; Osteomalacia; Parathyroid Hormone; Phosphorus; Rickets; X Chromosome

Fasting serum 1 alpha, 25-dihydroxyvitamin D [1,25-(OH)2D] levels were measured in 3 groups of hypophosphatemic vitamin D-resistant rickets (VDRR) patients; those untreated; those treated with vitamin D and phosphate; and those treated with 1,25-(OH)2D3 and phosphate. In the untreated patients, the mean 1,25-(OH)2D level was higher than in our age-matched control group. Except for one at 66 pg/ml, individual values were however within normal limits. Long term vitamin D2 therapy was accompanied by a slight but significant decrease in 1,25-(OH)2D concentrations; nonetheless the levels remained within the normal range. In the third group of patients, the concentration of 1,25-(OH)2D rose to supranormal levels when sampling was done 1-3 hours after administration of the hormone, decreasing rapidly to levels below that of normal subjects when the specimens were collected 12-24 hours later. Our data show that an alteration of the vitamin D activation pathway is unlikely to be part of the pathogenic mechanism underlying the VDRR condition.

Topics: Adolescent; Alkaline Phosphatase; Calcitriol; Child; Child, Preschool; Dihydroxycholecalciferols; Ergocalciferols; Female; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Male; Parathyroid Hormone; Phosphates

A 4-year-old girl presented with severe clinical and radiological rickets, and alopecia since the age of 1 year. Laboratory studies revealed: hypocalcaemia, hypophosphataemia, secondary hyperparathyroidism, abnormally low intestinal calcium absorption, and markedly elevated circulating 1,25(OH)2D3 levels. A normal calcaemic response to parathyroid extract was obtained. Treatment attempts with vitamin D2, 1 alpha (OH)D3 and 1,25(OH)2D3 were totally ineffective. Intestinal resistance to the action of 1,25(OH)2D3 appeared well established in this case. Refractoriness of bone to this hormone seems less certain. From this new entity of 'Vitamin D resistant rickets due to end organ unresponsiveness', six cases have been hitherto reported in the literature. However, only two have enough resemblance to our case, to constitute a distinct and well defined nosologic subunit. The molecular basis of this disorder(s) remains to be elucidated.

Topics: Alopecia; Calcitriol; Calcium; Child, Preschool; Dihydroxycholecalciferols; Drug Resistance; Ergocalciferols; Female; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial

Serum 25-hydroxyvitamin D (25-OH-D) and 1,25-dihydroxyvitamin D (1,25-(OH)2D) and bone mineral content by the photon-absorption technique were determined in eight patients with X-linked hypophosphatemic rickets treated for at least 24 months with oral sodium phosphate and high-dosage ergocalciferol (vitamin D2). Mean 25-OH-D2 level was 129.5 +/- 67.5 ng/mL (mean +/- SD); the level of 25-OH-D3 was 10.5 +/- 5.8 ng/mL. These values were significantly higher than in normal subjects (total 25-OH-D mean of 27 +/- 10 ng/mL). Serum 1,25-(OH)2D was 16.9 +/- 8.5 pg/mL (mean +/- SD) in the eight patients, significantly lower than 47 +/- 16 pg/mL in 27 age-matched controls. Values indicative of significant demineralization were found in seven of the eight phsophate-treated patients, who had no radiologic evidence of rickets. These results suggest that any theory of the pathogenesis of this disorder must account for inappropriate renal vitamin D metabolism and for renal hyperphosphaturia. The failure of high-dosage oral phosphate and ergocalciferol to fully correct demineralization may suggest a role for calcitriol (1,25-(OH)2D3) as a therapeutic agent.

Topics: Absorption; Adolescent; Alkaline Phosphatase; Bone and Bones; Calcium; Child; Child, Preschool; Dihydroxycholecalciferols; Ergocalciferols; Female; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Light; Magnesium; Male; Parathyroid Hormone; Phosphates

A 12-yr-old female patient with an unusual form of vitamin D dependency and alopecia is described. She was a product of consanguineous mating and developed signs and symptoms suggesting vitamin D dependency early in life. Neither 150 microgram/day (6 microgram/kg.day) 1 alpha-hydroxyvitamin D3 nor 5 microgram/day (0.2 microgram/kg.day) 1,25-dihydroxyvitamin D3 proved to have an effect on her abnormal serum chemistry. Seven million international units per day (about 2 x 10(5) IU/kg.day) of native vitamin D restored her serum chemistry to normal and brought about marked improvement on skeletal radiographs, when her serum 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and 24,25-di-hydroxyvitamin D were 4250, 4.8, and 35 ng/ml, respectively. Even with the high serum levels of vitamin D metabolites, her intestinal 47Ca absorption rate remained in the lower normal range and urinary calcium excretion was decidedly low. Association of hypoparathyroidism was ruled out. These results suggest that the patient has extreme and-organ (intestine) hyposensitivity, probably of congenital origin, to the biologically active metabolites of vitamin D.

Topics: Alopecia; Calcium; Child; Dihydroxycholecalciferols; Ergocalciferols; Female; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Intestinal Absorption

We treated 11 children with vitamin D-resistant rickets with a phosphate mixture either alone (1.2 to 3.6 g per day) or combined with ergocalciferol (vitamin D2, to 50 x 103 IU per day) or with calcitriol (1,25-dihydroxyvitamin D3, 0.25 to 1 microgram per day). Serum calcitriol concentrations were normal in all patients. Calcitriol therapy circulating levels of the hormone to values above normal and increased intestinal phosphate absorption. In some patients this regimen decreased the need for phosphate supplements. None of the treatment regimens corrected the renal phosphate leak. Radiologic studies and bone histomorphometric analyses showed that phosphate (alone or with ergocalciferol) induced the mineralization of the growth plate but not of the endosteal bone surface. Combined calcitriol and phosphate therapy for a total of 2850 patient-days greatly improved the mineralization of trabecular bone. Short-term episodes of hypercalcemia were easily controlled by changes in calcitriol dosage. The data indicate that the combined calcitriol and phosphate regimen is useful in the treatment of vitamin D-resistent rickets.

Topics: Adolescent; Bone and Bones; Calcitriol; Child; Child, Preschool; Dihydroxycholecalciferols; Ergocalciferols; Female; Growth; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Male; Phosphates; Radiography; Time Factors

Three siblings, respectively 20, 16 and 12 years old, presented with hypocalcemic vitamin D resistant rickets (Prader's type). Their clinical history included several periods of spontaneous cessation of therapy, with severe relapses. Since 1973, treatment was strictly observed, allowing to test the therapeutic effects of 25 OH D3, 1-25 (OH) 2 D3 and 1-alpha (OH) D3. The clinical effects are reported as well as biochemical data. Among them, an inactive form of hyperparathyroidism is emphasized, which may resemble some cases of pseudohypoparathyroidism. Simultaneous resistance to exogenous PTE was also demonstraded.

Topics: Adolescent; Adult; Child; Cholecalciferol; Drug Evaluation; Ergocalciferols; Female; Follow-Up Studies; Humans; Hypophosphatemia, Familial; Male; Vitamin D

Typical features of hereditary vitamin D-dependent (pseudovitamin D-deficient) rickets were observed beginning at ages 20 and 5 months in a brother and sister. Both had calcium malabsorption correctable with high doses of 25-hydroxyvitamin D. During periods of hypocalcemia they both manifested secondary hyperparathyroidism with hypophosphatemia and high serum concentrations of endogenously produced 1,25-dihydroxyvitamin D. In each, normalization of serum calcium concentration and resolution of osteomalacia were obtained with continuous administration of high doses of ergocalciferol or high doses of 1,25-dihydroxycholecalciferol. Chemical features of vitamin D deficiency were corrected in the presence of high circulating concentrations of 1,25-dihydroxyvitamin D2, produced endogenously, or of 1,25-dihydroxyvitamin D3, administered by mouth. Serum concentrations of 25-hydroxyvitamin D2, 25-hydroxyvitamin D3, 24,25-dihydroxyvitamin D, and 1,25-dihydroxyvitamin D were normal in five first degree relatives. We conclude that in these five first degree relatives. We conclude that in these siblings, rickets and osteomalacia resulted from a hereditary decreased sensitivity to 1,25-dihydroxyvitamin D at the intestine and perhaps other vitamin D target tissues.

Topics: Absorption; Adolescent; Adult; Alkaline Phosphatase; Bone and Bones; Calcifediol; Calcitriol; Calcium; Cyclic AMP; Ergocalciferols; Female; Humans; Hypophosphatemia, Familial; Male; Phosphorus; Radiography; Syndrome

The serum concentration of 1,25-dihydroxylvitamin D (1,25-[OH]2D) in normal children and in children with inherited diseases of bone was compared by use of a competitive binding assay. Observed values were: in 12 normal children and adolescents, 37.1 +/- 1.9 pg per milliliter (mean +/- S.D.); in 14 patients with X-linked hypophosphatemic rickets treated with vitamin D2 and phosphate supplements, 15.6 +/- 7.8 (P less than 0.01 versus control); in six patients with autosomal recessive vitamin D dependency treated with vitamin D2, 9.5 +/- 2.9 (P less than 0.01 versus control); and in four untreated patients with autosomal dominant hypophosphatemic (non-rachitic) bone disease, 30.2 +/- 6.3 (not significantly different from the controls). The difference in bone disease between X-linked hypophosphatemia (severe) and hypophosphatemic bone disease (mild) at comparable low serum levels of phosphate implies that 1,25-(OH)2D and phosphate may have independent roles in the pathogenesis of defective bone mineralization.

Topics: Adolescent; Adult; Age Factors; Binding, Competitive; Bone Diseases; Child; Child, Preschool; Dihydroxycholecalciferols; Ergocalciferols; Female; Genes, Dominant; Genes, Recessive; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Male; Phosphates; Rickets; X Chromosome

Topics: Blood Glucose; Calcium; Ergocalciferols; Female; Glucose; Glucose Tolerance Test; Humans; Hypocalcemia; Hypoparathyroidism; Hypophosphatemia, Familial; Insulin; Insulin Secretion; Male; Theophylline

Topics: Adult; Ergocalciferols; Humans; Hypophosphatemia, Familial; Kidney Failure, Chronic; Middle Aged; Renal Dialysis; Time Factors

Vitamin-D deficiency is not as rare in Jamaica as previously believed. 9 children with vitamin-D deficiency rickets have been seen at the University Hospital of the West Indies during the past 5 years. All were over 3 years of age at time of presentation. Both dietary deficiency of vitamin D and lack of exposure to sunlight seem to be important causes. Children living in rural Jamaica seem to be more susceptible to the disease than those living in a city, due perhaps to more prolonged breast feeding and lack of fortified milk feeds on weaning.

Topics: Alkaline Phosphatase; Black or African American; Breast Feeding; Calcium; Child; Child, Preschool; Diet; Ergocalciferols; Female; Growth; Humans; Hypophosphatemia, Familial; Infant; Jamaica; Male; Phosphorus; Rickets; Sunlight

Topics: Calcium; Child; Cholecalciferol; Chromosome Aberrations; Chromosome Disorders; Ergocalciferols; Female; Humans; Hypocalcemia; Hypophosphatemia, Familial; Infant; Intestinal Absorption; Male; Phosphates; Rickets; Vitamin D; Vitamin D Deficiency

Topics: Anticonvulsants; Cholecalciferol; Dihydrotachysterol; Dihydroxycholecalciferols; Ergocalciferols; Genes, Dominant; Genes, Recessive; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Rickets; Sex Chromosomes; Vitamin D

Topics: Alkaline Phosphatase; Anticonvulsants; Calcium; Cerebral Palsy; Child; Child, Institutionalized; Child, Preschool; Dihydrotachysterol; Ergocalciferols; Female; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Intellectual Disability; Male; Phosphorous Acids; Radiography; Time Factors; Vitamin D; Wrist

Topics: Child; Child, Preschool; Cholecalciferol; Dihydroxycholecalciferols; Ergocalciferols; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Injections, Intravenous; Steroid Hydroxylases; Time Factors; Vitamin D

Topics: Adolescent; Dihydrotachysterol; Ergocalciferols; Female; Humans; Hypocalcemia; Hypoparathyroidism; Hypophosphatemia, Familial; Infant; Male; Protein-Losing Enteropathies; Pseudohypoparathyroidism

Topics: Adult; Alkaline Phosphatase; Body Height; Body Weight; Calcium; Child, Preschool; Cholecalciferol; Ergocalciferols; Female; Humans; Hydroxyproline; Hypophosphatemia, Familial; Male; Osteomalacia; Phosphates; Phosphorus; Radiography; Wrist

Serum immunoreactive parathyroid hormone(IPTH) is normal in patients with X-linked hypophosphatemic rickets who are not treated with phosphate salts. Phosphate raises IPTH in these patients. Endogenous IPTH does not influence the existing defect in tubular reabsorption of phosphate in male patients.

Topics: Calcium; Diet Therapy; Ergocalciferols; Female; Glomerular Filtration Rate; Humans; Hyperparathyroidism; Hypophosphatemia, Familial; Kidney Tubules; Male; Parathyroid Hormone; Phosphates; Phosphorus; Sex Factors

Topics: Cholecalciferol; Ergocalciferols; Humans; Hydroxylation; Hypophosphatemia, Familial; Kidney Tubules; Vitamin D

Topics: Ergocalciferols; Female; Humans; Hypokalemia; Hypophosphatemia, Familial; Infant; Kidney Function Tests; Male; Pyelonephritis; Rickets