RESUMEN
Vitamin D is mainly produced in the skin (cholecalciferol) by sun exposure while a fraction of it is obtained from dietary sources (ergocalciferol). Vitamin D is further processed to 25-hydroxyvitamin D and 1,25-dihydroxy vitamin D (calcitriol) in the liver and kidneys, respectively. Calcitriol is the active form which mediates the actions of vitamin D via vitamin D receptor (VDR) which is present ubiquitously. Defect at any level in this pathway leads to vitamin D deficient or resistant rickets. Nutritional vitamin D deficiency is the leading cause of rickets and osteomalacia worldwide and responds well to vitamin D supplementation. Inherited disorders of vitamin D metabolism (vitamin D-dependent rickets, VDDR) account for a small proportion of calcipenic rickets/osteomalacia. Defective 1α hydroxylation of vitamin D, 25 hydroxylation of vitamin D, and vitamin D receptor result in VDDR1A, VDDR1B and VDDR2A, respectively whereas defective binding of vitamin D to vitamin D response element due to overexpression of heterogeneous nuclear ribonucleoprotein and accelerated vitamin D metabolism cause VDDR2B and VDDR3, respectively. Impaired dietary calcium absorption and consequent calcium deficiency increases parathyroid hormone in these disorders resulting in phosphaturia and hypophosphatemia. Hypophosphatemia is a common feature of all these disorders, though not a sine-qua-non and leads to hypomineralisation of the bone and myopathy. Improvement in hypophosphatemia is one of the earliest markers of response to vitamin D supplementation in nutritional rickets/osteomalacia and the lack of such a response should prompt evaluation for inherited forms of rickets/osteomalacia.
Asunto(s)
Raquitismo Hipofosfatémico Familiar , Osteomalacia , Raquitismo , Deficiencia de Vitamina D , Humanos , Calcitriol , Receptores de Calcitriol , Osteomalacia/tratamiento farmacológico , Osteomalacia/etiología , Osteomalacia/metabolismo , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/tratamiento farmacológico , Raquitismo/tratamiento farmacológico , Raquitismo/etiología , Vitamina D/uso terapéutico , Vitamina D/metabolismo , VitaminasRESUMEN
INTRODUCTION: Vitamin D deficiency affects from 10% to 50% in various pediatric population groups and causes life-threatening hypocalcemia in infants, crippling rickets in infants and children, and increased risk of subsequent adult metabolic and neurologic problems. AREAS COVERED: An English language literature search of PubMed was performed since 1940 as were the authors' personal literature collections. References identified in the reviewed literature are considered. DIAGNOSIS: The diagnosis of vitamin D deficiency is based on serum 25-hydroxyvitamin D levels. Clinical features of rickets include bone deformities and elevated alkaline phosphatase. Most children and adolescents who are biochemically vitamin D deficient do not have specific symptoms or signs of deficiency. PREVENTION: Prevention of vitamin D deficiency is via exposure to sunshine, food and beverage fortification, and dietary supplementation. TREATMENT: Effective treatment of vitamin D deficiency is via oral or injectable administration of vitamin D. Dosing and duration of vitamin D therapy have been described for healthy children and for children with underlying medical conditions, but recommendations vary. EXPERT OPINION: Further investigation is needed to determine long-term non-skeletal effects of childhood vitamin D deficiency, benefits of supplementation in asymptomatic individuals with biochemical vitamin D deficiency, and appropriate screening for vitamin D deficiency in asymptomatic children and adolescents.
Asunto(s)
Hipocalcemia , Raquitismo , Deficiencia de Vitamina D , Lactante , Adolescente , Niño , Humanos , Deficiencia de Vitamina D/tratamiento farmacológico , Raquitismo/diagnóstico , Raquitismo/tratamiento farmacológico , Raquitismo/etiología , Vitamina D/uso terapéutico , Resultado del TratamientoRESUMEN
ABSTRACT: Nutritional rickets is the failure of normal bone formation in children, caused by vitamin D deficiency, low calcium intake, or a combination of both. In the United States, prolonged breastfeeding without vitamin D supplementation is a major risk factor. Increasing awareness of the rationale for and importance of vitamin D supplements for all breastfed infants and children should reduce the incidence of vitamin D deficiency rickets and prevent bone deformity.
Asunto(s)
Raquitismo , Deficiencia de Vitamina D , Lactante , Femenino , Preescolar , Humanos , Raquitismo/diagnóstico , Raquitismo/etiología , Raquitismo/prevención & control , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/prevención & control , Vitamina D/uso terapéutico , Lactancia Materna , Suplementos Dietéticos , CalcioRESUMEN
We conducted a follow up of the children in Mongolia whose mothers received one of the three doses of vitamin D (600, 2000, or 4000 IU daily) during pregnancy as part of the randomized, double-blind, clinical trial of vitamin D supplementation to determine their impact on child health to two years. In the parental trial, 119 pregnant women were assigned to 600 IU/day, 121 were assigned 2000 IU/day, and 120 were assigned 4000 IU/day starting at 12-16 weeks' gestation and continuing throughout pregnancy. At baseline, maternal serum 25(OH)D concentrations were similar across arms; 91 % were 50 nmol/l. As expected, there was a dose-response association between the amount of vitamin D consumed (600, 2000, or 4000 IU daily) and maternal 25(OH)D levels at the end of the intervention. Total 311 children of 311 mothers were followed for 2 years to evaluate health outcomes. We determined the child's health outcomes (rickets, respiratory disease [pneumonia, asthma], and diarrhea/vomiting) using a questionnaire and physical examination (3, 6, and 24 months of age). Low levels of mothers' serum 25(OH)D during pregnancy increased the risk of developing rickets, respiratory illness, and other diseases in children during the early childhood period. Rickets was diagnosed in 15.6 % of children of women who received 600 IU of vitamin D during pregnancy, which was higher than in other vitamin D groups. Children in the group whose mothers received low doses of vitamin D (600 IU/day) had a greater probability of developing respiratory diseases compared to the other groups: pneumonia was diagnosed in n = 36 (35.0 %) which was significantly higher than the group receiving vitamin D 4000 IU/day (n = 34 (31.5 %) p = 0.048). In the group whose pregnant mother consumed 600 IU/day of vitamin D, the risk of child pneumonia was â¼ 2 times higher than in the group who consumed 4000 IU/day (OR=1.99, 95 % CI: 1.01-3.90). The incidence of diarrhea and vomiting in children was 12.1 % lower in the 2000 IU/day group and 13.1 % lower in the 4000 IU/day group compared with the 600 IU/day group (p = 0.051). The offspring of pregnant women who regularly used vitamin D at doses above 600 IU/day had lower respiratory disease, rickets, and diarrheal risks at 2 years.
Asunto(s)
Neumonía , Raquitismo , Deficiencia de Vitamina D , Humanos , Femenino , Niño , Preescolar , Embarazo , Salud Infantil , Suplementos Dietéticos , Vitamina D , Vitaminas , Método Doble Ciego , Diarrea , Vómitos , Evaluación de Resultado en la Atención de Salud , ColecalciferolRESUMEN
Exclusive breastfeeding is considered the ideal food in the first six months of life; however, paradoxically, vitamin D content in human breast milk is clearly low and insufficient to obtain the recommended intake of 400 IU daily. This article summarizes the extraordinary metabolism of vitamin D during pregnancy and its content in human breast milk. The prevalence of hypovitaminosis D in pregnant women and/or nursing mothers and its potential maternal-fetal consequences are analyzed. The current guidelines for vitamin D supplementation in pregnant women, nursing mothers, and infants to prevent hypovitaminosis D in breastfed infants are detailed. Low vitamin D content in human breast milk is probably related to active changes in human lifestyle habits (reduced sunlight exposure).
Asunto(s)
Raquitismo , Deficiencia de Vitamina D , Lactante , Femenino , Humanos , Embarazo , Vitamina D/uso terapéutico , Vitamina D/metabolismo , Lactancia Materna , Suplementos Dietéticos , Vitaminas/metabolismo , Deficiencia de Vitamina D/epidemiología , Deficiencia de Vitamina D/prevención & control , Deficiencia de Vitamina D/metabolismo , Raquitismo/metabolismo , Leche Humana/metabolismoRESUMEN
We report a short-statured, young man in his 20s presenting with bilateral cataract, recurrent kidney stones, history of refractory rickets and bone deformity. He had been consuming calcium and vitamin D supplements and had been operated for cataract and renal stone disease, prior to reporting in our clinic without any significant laboratory or clinical improvement. The patient was diagnosed as having Fanconi's syndrome attributable to Wilson's disease. This patient highlights that in case of resistant rickets, a high index of suspicion must be invoked for Wilson's disease. Timely recognition of this entity results in prompt ministrations and prevention of disability.
Asunto(s)
Enfermedades Óseas Metabólicas , Catarata , Degeneración Hepatolenticular , Cálculos Renales , Raquitismo , Masculino , Humanos , Degeneración Hepatolenticular/complicaciones , Degeneración Hepatolenticular/diagnóstico , Degeneración Hepatolenticular/tratamiento farmacológicoRESUMEN
Vitamin D deficiency is prevalent among various groups in the UK, and can result from insufficient sunlight exposure and dietary intake. There is a population-wide recommendation of 10 micrograms (400 international units) of vitamin D per day, with a daily supplement advised. However, supplement use is often suboptimal, compounding the risk of deficiency. Long-term vitamin D deficiency can cause rickets in children and osteomalacia or osteoporosis in adults. Therefore, it is important that nurses recognise which groups are at increased risk of vitamin D deficiency and understand how to assess people's vitamin D status. Nurses also need to be able to support the prevention and treatment of low vitamin D levels, which typically involves supplementation and lifestyle changes.
Asunto(s)
Raquitismo , Deficiencia de Vitamina D , Niño , Adulto , Humanos , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/prevención & control , Vitamina D/uso terapéutico , Raquitismo/etiología , Raquitismo/prevención & control , Vitaminas , Suplementos DietéticosRESUMEN
BACKGROUND: Nutritional rickets (NR) is still a major problem and is exacerbated by an increasing influx of immigrants. In this study, Turkish and immigrant cases followed with the diagnosis of NR in our pediatric endocrinology clinic were retrospectively evaluated. METHODS: Detailed data of cases diagnosed with NR between 2013 and 2020 and followed for at least six months were reviewed. RESULTS: In the study period, 77 cases of NR were identified. Turkish children constituted 76.6% (n=59) while 18 (23.4%) were immigrant children. The mean age at diagnosis was 8.1±7.8 months, 32.5% (n=25) were female, and 67.5% (n=52) were male. The 25-hydroxyvitamin D3 was below normal in all patients, with a mean value of 4.3±2.6 ng/mL. Parathyroid hormone (PTH) was above normal in all and the mean value was 301.7±139.3 pg/ mL. While there were 3.9 cases of NR in 10,000 endocrine clinic patients in 2013, this rate increased more than four-fold to 15.7 patients in 2019. CONCLUSIONS: Despite the vitamin D prophylaxis program in Türkiye, NR is seen significantly more frequently in recent years, which may be associated with an increasing number of refugees. High PTH levels indicate the severity of NR cases admitted to our clinic. However, clinically significant NR is only the tip of the iceberg and the true burden of subclinical rickets is unknown. Increasing compliance with the vitamin D supplementation program in refugee and Turkish children is important for the prevention of nutritional rickets.
Asunto(s)
Refugiados , Raquitismo , Deficiencia de Vitamina D , Humanos , Niño , Masculino , Femenino , Lactante , Estudios Retrospectivos , Raquitismo/epidemiología , Raquitismo/prevención & control , Raquitismo/complicaciones , Vitamina D , Deficiencia de Vitamina D/epidemiología , Deficiencia de Vitamina D/complicaciones , Hormona Paratiroidea/uso terapéutico , Vitaminas/uso terapéuticoRESUMEN
Rickets is a disorder of defective mineralisation of the growth plate. Vitamin D deficiency remains the leading cause of nutritional rickets worldwide.We present the case of a 3.5-year-old breastfed boy who presented with dental abscess when a history of developmental regression was noted. Clinical assessment revealed hypotonia, poor growth and stunting. Biochemistry identified hypocalcaemia (1.63mmol/L, [normal range (NR) 2.2-2.7mmol/L]), severe vitamin D deficiency (25hydroxyvitamin D 5.3nmol/L, [NR > 50nmol/L]) with secondary hyperparathyroidism (Parathormone 159pmol/L, [NR 1.6-7.5pmol/L]) and rickets on radiographs. Growth failure screening suggested hypopituitarism with central hypothyroidism and low IGF1 at baseline, however, dynamic tests confirmed normal axis. Management included nasogastric nutritional rehabilitation, cholecalciferol and calcium supplementation and physiotherapy. A good biochemical response in all parameters was observed within 3 weeks and reversal of developmental regression by 3 months from treatment. Developmental regression as a presentation of nutritional rickets is rare and requires a high index of suspicion.
Asunto(s)
Calcinosis , Raquitismo , Deficiencia de Vitamina D , Masculino , Femenino , Humanos , Preescolar , Raquitismo/complicaciones , Raquitismo/diagnóstico , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/diagnóstico , Placa de Crecimiento , Lactancia MaternaRESUMEN
OBJECTIVES: A 14-week-old female domestic longhair kitten presented with shifting lameness and disproportionately smaller size compared with a co-housed littermate. METHODS: Hematology and serum biochemical testing were conducted to investigate causes for delayed growth, and radiographs of the appendicular skeleton were obtained. RESULTS: The afflicted kitten had marked hypocalcemia, mild hypophosphatemia and substantial elevations in alkaline phosphatase activity, as well as pathognomonic radiographic findings consistent with rickets. Skeletal changes and hypocalcemia prompted testing of concentrations of parathyroid hormone (PTH) and vitamin D metabolites. Endocrine testing demonstrated significant increases in serum concentrations of PTH and 1,25-dihydroxycholecalciferol (calcitriol), supporting a diagnosis of vitamin D-dependent rickets type 2. Provision of analgesia, supraphysiologic doses of calcitriol and calcium carbonate supplementation achieved normalization of the serum calcium concentration and restoration of normal growth, although some skeletal abnormalities persisted. Once skeletally mature, ongoing calcitriol supplementation was not required. Whole-exome sequencing (WES) was conducted to identify the underlying DNA variant. A cytosine deletion at cat chromosome position B4:76777621 in VDR (ENSFCAT00000029466:c.106delC) was identified and predicted to cause a stop codon in exon 2 (p.Arg36Glufs*18), disrupting >90% of the receptor. The variant was unique and homozygous in this patient and absent in the sibling and approximately 400 other cats for which whole-genome and whole-exome data were available. CONCLUSIONS AND RELEVANCE: A unique, heritable form of rickets was diagnosed in a domestic longhair cat. WES identified a novel frameshift mutation affecting the gene coding for the vitamin D3 receptor, determining the likely causal genetic variant. Precision medicine techniques, including whole-exome and whole-genome sequencing, can be a standard of care in cats to identify disease etiologies, and to target therapeutics and personalize treatment.
Asunto(s)
Enfermedades de los Gatos , Hipocalcemia , Raquitismo , Femenino , Gatos , Animales , Medicina de Precisión/veterinaria , Secuenciación del Exoma/veterinaria , Calcitriol , Hipocalcemia/veterinaria , Mutación del Sistema de Lectura , Raquitismo/diagnóstico , Raquitismo/tratamiento farmacológico , Raquitismo/genética , Raquitismo/veterinaria , Enfermedades de los Gatos/tratamiento farmacológico , Enfermedades de los Gatos/genéticaRESUMEN
Vitamin D plays a vital role in regulating calcium and phosphate metabolism and maintaining bone health. A state of prolonged or profound vitamin D deficiency (VDD) can result in rickets in children and osteomalacia in children and adults. Recent studies have demonstrated the pleiotropic action of vitamin D and identified its effects on multiple biological processes in addition to bone health. VDD is more prevalent in chronic childhood conditions such as long-standing systemic illnesses affecting the renal, liver, gastrointestinal, skin, neurologic and musculoskeletal systems. VDD superimposed on the underlying disease process and treatments that can adversely affect bone turnover can all add to the disease burden in these groups of children. The current review outlines the causes and mechanisms underlying poor bone health in certain groups of children and young people with chronic diseases with an emphasis on the proactive screening and treatment of VDD.
Asunto(s)
Osteomalacia , Raquitismo , Deficiencia de Vitamina D , Adulto , Niño , Humanos , Adolescente , Deficiencia de Vitamina D/diagnóstico , Raquitismo/etiología , Raquitismo/prevención & control , Vitamina D/metabolismo , Huesos/metabolismo , Osteomalacia/complicaciones , VitaminasRESUMEN
OBJECTIVE: In 1971, Weiss identified a "scapula sign" comprising a defect at the inferior angle of the scapula in juveniles with vitamin D deficiency rickets, but this has been little studied since. This study aimed to explore pathological variation of this defect in juveniles with other skeletal manifestations of vitamin D deficiency rickets. MATERIALS AND METHODS: 527 juveniles, aged from birth to 12 years, from two post-medieval British assemblages were macroscopically evaluated to document the range of pathological changes at the inferior angle. Scapula maximum lengths were recorded and supplementary radiographs were assessed. RESULTS: Blunting, flattening or squaring of the inferior angle occurred in 34 of 155 (22%) juveniles with other indicators of rickets and occurred frequently in cases of severe active rickets. Coarsening of the border and cupping deformities were identified radiographically, as well as residual defects in healed cases. Scapula lengths in juveniles with active rickets did not consistently deviate from those expected in any age group. CONCLUSIONS: The scapula sign is identifiable in some children with rickets. Differential diagnoses of scapula defects are important but the socio-cultural and environmental context of this sample suggests a link to vitamin D deficiency. SIGNIFICANCE: This finding expands the range of pathological changes known to occur in rickets, helping to improve recognition of this condition in past groups. LIMITATIONS: Small sample sizes prevented observation of the defect in adolescents with rickets. Defects can affect the positioning of standardised scapula length measures, complicating assessments of growth impacts. SUGGESTIONS FOR FUTURE RESEARCH: Continued research into the range of skeletal changes that can develop in vitamin D deficiency to improve the identification of this deficiency in past groups.
Asunto(s)
Raquitismo , Deficiencia de Vitamina D , Niño , Adolescente , Humanos , Raquitismo/diagnóstico , Deficiencia de Vitamina D/patologíaRESUMEN
OBJECTIVES: Vitamin D deficiency is common in the pediatric group with obesity and is a risk factor for metabolic syndrome. Supplementation of vitamin D may require higher dosing than in normal-weight children. The aim of our study was to investigate the response of supplementation on vitamin D levels and the metabolic profile in youths with obesity. METHODS: Children and adolescents with obesity (Body mass index >2.3 SDS, age ≤18 years) and hypovitaminosis D (level <20 µg/L) who entered a residential weight-loss program in Belgium, were included during summer. Subjects were randomized: Group 1 received 6,000 IU vitamin D daily for 12 weeks, whereas Group 2 simultaneously participating in the weight-loss program received no supplementation. Differences in vitamin D levels, weight, insulin resistance, lipid patterns, and blood pressure after 12 weeks were assessed. RESULTS: A total of 42 subjects (12-18 years) with hypovitaminosis D were included, group 1 (n=22) received supplementation after randomization. After 12 weeks, a median increase in vitamin D levels of 28.2 (24.1-33.0) and 6.7 (4.1-8.4) µg/L was observed in group 1 and group 2, respectively (p-value<0.001), resulting in vitamin D sufficiency in 100 and 60% of subjects. No significant differences in weight loss (p-value 0.695), insulin resistance (p-value 0.078), lipid patterns (p-value 0.438), or blood pressure (p-value 0.511) were observed between both groups after 12 weeks of treatment. CONCLUSIONS: Supplementation with 6,000 IU vitamin D daily during 12 weeks in children and adolescents with obesity and hypovitaminosis D is safe and sufficient to reach vitamin D sufficiency. However, no positive effects on weight loss, insulin resistance, lipid patterns, or blood pressure were observed.
Asunto(s)
Resistencia a la Insulina , Obesidad Infantil , Raquitismo , Deficiencia de Vitamina D , Niño , Adolescente , Humanos , Vitamina D , Vitaminas , LípidosRESUMEN
A two-week-old white-tailed eagle presented with an inability to stand and flex its limbs. Despite hatching naturally and owing to lack of parental attention, the bird was raised indoors by zookeepers with no access to sunlight. Palpation and radiographic examination of the bilateral tibiotarsus and femur bone revealed pronounced deformation and curvature, and bilateral decreased bone densities, respectively. The reduced calcium concentration in the blood was treated with calcium gluconate injections and calcium-supplemented feeds. Chopped mouse tails were fed directly, and whole pink-skinned nude mice were fed weekly. The zookeeper also gently massaged the bird and dressed it with a bandage. Sunlight exposure was provided daily. Saliva containing chicken feed was obtained from the mother. The bird could stand properly after four weeks of treatment, and the blood calcium concentration was restored to normal levels.
Asunto(s)
Águilas , Raquitismo , Animales , Ratones , Pollos , Calcio , Ratones Desnudos , Raquitismo/veterinariaRESUMEN
INTRODUCTION: Rates of infant vitamin D supplementation fall short of guideline recommendations. We explored this discrepancy from the clinician perspective as they advise and affect this important intervention to prevent rickets. We compared infant and high-dose maternal vitamin D supplementation prescribing attitudes and practices between infant-only clinicians (IC) and clinicians who care for mothers and infants (MIC). METHODS: We surveyed clinicians in departments of family medicine, obstetrics/gynecology, primary care pediatrics, neonatology, newborn nursery, and members of vitamin D and rickets working groups and a social media group for lactation medicine providers about their perspectives and practices regarding vitamin D supplementation. RESULTS: 360 clinician survey responses were analyzed. In current practice, IC were more likely than MIC to recommend vitamin D supplementation to exclusively (P < .001) and partially breastfed infants (P = .005). MIC were more likely than IC to discuss infant and high-dose maternal supplementation options and let the parents/caregivers choose (34.7%, 22.0%, P = .009). If supplementing the mother with high-dose vitamin D or the infant directly each provided adequate vitamin D in the infant, MIC were more likely than IC to think that supplementation of the mother would be preferred by parents/caregivers (63.0%, 45.2%, P = .003), improve adherence (66.5%, 49.4%, P = .006), and promote breastfeeding (54.7%, 36.5%, P = .001); they were also more likely to recommend supplementation of the mother (17.7%, 8.9%, P = .04). CONCLUSIONS: MIC are more likely than IC to embrace high-dose maternal vitamin D supplementation to provide adequate vitamin D for infants. This highlights an opportunity for further education of clinicians about this option.
Asunto(s)
Raquitismo , Deficiencia de Vitamina D , Recién Nacido , Femenino , Embarazo , Lactante , Humanos , Niño , Vitamina D , Suplementos Dietéticos , Lactancia Materna , Raquitismo/prevención & control , Madres , Deficiencia de Vitamina D/tratamiento farmacológico , Deficiencia de Vitamina D/prevención & controlRESUMEN
Hypovitaminosis D has been reported to be common in chronic kidney disease (CKD) as well as in proteinuric disorders. We reviewed available evidence to assess clinically relevant effects of low vitamin D status and native vitamin D (NVD) therapy, in pediatric renal diseases. Online medical databases were searched for articles related to vitamin D status, associations of hypovitaminosis D and effects of NVD therapy in kidney disease. Hypovitaminosis D was associated with worse skeletal, cardiovascular, inflammatory, and renal survival outcomes in CKD. Low serum 25 hydroxy-vitamin D (25[OH]D) levels correlated positively with glomerular filtration rate and negatively with serum parathyroid (PTH) levels. However, to date, evidence of benefit of NVD supplementation is restricted mainly to improvements in serum PTH, and biochemical 25[OH]D targets form the basis of clinical practice recommendations for NVD therapy. In nephrotic syndrome (NS) relapse, studies indicate loss of 25[OH]D along with vitamin D binding protein in urine, and serum total 25[OH]D levels are low. Preliminary evidence indicates that free 25[OH]D may be a better guide to the biologically active fraction. NVD therapy in NS does not show consistent results in improving skeletal outcomes and hypercalciuria has been reported when total 25[OH]D levels were considered as indication for therapy. NVD formulations should be regularised, and therapy monitored adequately to avoid adverse effects.
Asunto(s)
Insuficiencia Renal Crónica , Raquitismo , Deficiencia de Vitamina D , Humanos , Niño , Relevancia Clínica , Vitamina D/uso terapéutico , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/tratamiento farmacológico , Insuficiencia Renal Crónica/complicaciones , Insuficiencia Renal Crónica/tratamiento farmacológico , Riñón , Vitaminas , Hormona ParatiroideaRESUMEN
Rickets was a major public health problem dating from Roman times, and medical descriptions of rickets date from the 17th century. Sniadecki first advocated treatment by exposure to sunshine in 1822; contemporaneously, several British physicians advocated use of cod liver oil. Both approaches were successful. Work in 1924 showed that exposure to UV light endowed fats and other foods with antirachitic properties. Vitamins D2 and D3, the antirachitic agent in cod liver oil, were, respectively, produced by UV radiation of ergosterol and 7-dehydrocholesterol. Calcitriol (1,25[OH]2D3) was identified as the biologically active form of vitamin D in the early 1970s. The vitamin D 25-hydroxylase, 24-hydroxylase, and 1α-hydroxylase were cloned in the 1990s and their genetic defects were soon delineated. The vitamin D receptor was also cloned and its mutations identified in vitamin D-resistant rickets. Work with parathyroid hormone (PTH) began much later, as the parathyroids were not identified until the late 19th century. In 1925, James B. Collip (of insulin fame) identified PTH by its ability to correct tetany in parathyroidectomized dogs, but only in the 1970s was it clear that only a small fragment of PTH conveyed its activity. Congenital hypoparathyroidism with immune defects was described in 1968, eventually linked to microdeletions in chromosome 22q11.2. X-linked hypophosphatemic rickets was reported in 1957, and genetic linkage analysis identified the causative PHEX gene in 1997. Autosomal dominant hypophosphatemic rickets similarly led to the discovery of FGF23, a phosphate-wasting humoral factor made in bone, in 2000, revolutionizing our understanding of phosphorus metabolism.
Asunto(s)
Raquitismo , Vitamina D , Animales , Perros , Humanos , Aceite de Hígado de Bacalao/uso terapéutico , Raquitismo Hipofosfatémico Familiar/genética , Raquitismo Hipofosfatémico Familiar/historia , Hormona Paratiroidea , Raquitismo/genética , Raquitismo/historia , Raquitismo/fisiopatología , Raquitismo/terapia , Vitamina D/fisiología , Vitamina D/uso terapéutico , VitaminasRESUMEN
Bowing of the legs is common in childhood. Most times it is considered to be rickets without considering other possibilities. Blount´s disease is a close differential diagnosis which is developmental deformity characterized by intorsion of tibia leading to varus angulation. This case report aims to encourage pediatricians to expand their vision and consider other possibilities when a case of bowing of legs is encountered. Here we report a case of a four-year-old boy with bowing of both legs noticed first at 2.5 years of age. There was no history suggestive of trauma. Development of the child was age appropriate in all domains. He was receiving treatment for rickets for 1.5 years in form of oral vitamin D3 and calcium supplementations. He had no other clinical signs of rickets like frontal bossing, widening of wrists, and rachitic rosary except bowing of legs. His biochemical parameters did not show any alterations that would support the diagnosis of rickets. Weight-bearing radiographs of lower limbs showed medial intorsion of bilateral tibia with metaphyseo-diaphysial angle to be 25º on the right side and 20º on the left side, which was beyond the physiological normal angulation, therefore he was diagnosed as a case of Blount´s disease, stage III as per Langenskiöld classification. All the bow legs is not always rickets in pediatric practice. Therefore, various differential diagnoses should be kept in mind as early diagnosis and intervention can change a child´s life.
Asunto(s)
Genu Varum , Raquitismo , Enfermedades del Desarrollo Óseo , Calcio , Niño , Preescolar , Colecalciferol , Genu Varum/complicaciones , Humanos , Masculino , Osteocondrosis/congénito , Raquitismo/diagnóstico , Raquitismo/tratamiento farmacológico , Raquitismo/etiología , TibiaRESUMEN
Background: Early childhood rickets increased in Alaska Native children after decreases in vitamin D-rich subsistence diet in childbearing-aged women. We evaluated the impact of routine prenatal vitamin D supplementation initiated in Alaska's Yukon Kuskokwim Delta in Fall 2016. Methods: We queried electronic health records of prenatal women with 25(OH) vitamin D testing during the period 2015−2019. We evaluated 25(OH)D concentrations, vitamin D3 supplement refills, and decayed, missing, and filled teeth (dmft) scores and rickets in offspring. Results: Mean 25(OH)D concentrations increased 36.5% from pre- to post-supplementation; the percentage with deficient 25(OH)D decreased by 66.4%. Women with ≥ 60 vitamin D3 refill days had higher late pregnancy 25(OH)D concentrations than those with no refill days (p < 0.0001). Women with late pregnancy insufficient 25(OH)D concentrations had offspring with higher dmft scores than those with sufficient 25(OH)D (RR 1.3, p < 0.0001). Three children were diagnosed with nutritional rickets during the period 2001−2021, and none after 2017. Conclusions: These findings suggest that prenatal vitamin D supplementation can improve childhood outcomes in high-risk populations with high rates of rickets.
Asunto(s)
Caries Dental , Raquitismo , Deficiencia de Vitamina D , Anciano , Niño , Preescolar , Colecalciferol , Caries Dental/epidemiología , Caries Dental/prevención & control , Susceptibilidad a Caries Dentarias , Suplementos Dietéticos , Femenino , Humanos , Embarazo , Raquitismo/epidemiología , Raquitismo/prevención & control , Vitamina D , Deficiencia de Vitamina D/tratamiento farmacológico , Deficiencia de Vitamina D/epidemiología , Vitaminas/uso terapéuticoRESUMEN
OBJECTIVES: Children with epilepsy are at increased risk of vitamin D deficiency. We aimed to compare the effect of two ergocalciferol regimens given for 90 days. METHODS: Epileptic patients aged 5-18 years who received at least one antiepileptic drug (AED) for more than 6 months and had serum 25-OHD <30 ng/mL were randomized to receive 20,000 IU/10 d (standard dose, n=41) or 60,000 IU/10 d (high dose, n=41) of oral ergocalciferol. Serum Ca, P, Mg, ALP, iPTH and urine Ca/Cr ratio were measured at baseline and after 90 days of treatment. Change in serum 25-OHD and vitamin D status after treatment was evaluated. RESULTS: The initial serum 25-OHD in the standard dose and high dose group was 19.5 ± 4.9 and 18.4 ± 4.6 ng/mL, respectively. Serum 25-OHD after treatment was significantly higher in the high dose group (39.0 ± 11.5 vs. 27.5 ± 8.6 ng/mL, p<0.05). The average increase in serum 25-OHD in the high dose and standard dose group was 20.6 ± 11.4 and 7.2 ± 7.5 ng/mL, respectively (p<0.05). Normalized serum 25-OHD was achieved in 80.5% of the high dose group compared to 36.6% of the standard dose group (p<0.05). No adverse events were found. Patients with a BMI Z-score>0 had a 2.5 times greater risk of continued hypovitaminosis D after treatment compared to those with a BMI Z-score<0 (95% CI: 1.0-5.9, p<0.05). CONCLUSIONS: Oral ergocalciferol 60,000 IU/10 d for 90 days was more effective at normalizing serum 25-OHD than 20,000 IU/10 d in epileptic children and adolescents who were receiving AEDs.