RESUMEN
The rickets is a disease that affects the differentiation and mineralization of the growth cartilage, as an ultimate consequence of a balance loss in calcium and phosphate levels. Vitamin D deficiency is the most common cause of the rickets (nutritional rickets). Its clinical manifestation during the first years of life involves long bones epiphysis in a more severe way. We report an 8-month-old infant who was diagnosed with cow´s milk protein allergy and suffered from multiple fractures while receiving elemental formula as part of his treatment. The final etiology was hypophosphatemic rickets secondary to phosphate deficiency, and after 3 months of phosphate, calcium and calcitriol supplementation, in addition to the gradually reduction of the proportion of elemental formula intake and the decline of the antacid doses, clinical and radiological heal was achieved.
El raquitismo afecta la diferenciación y mineralización del cartílago de crecimiento como consecuencia, en última instancia, de una alteración en los niveles de fósforo y/o calcio. El secundario a la deficiencia de vitamina D es la forma más frecuente (raquitismo carencial). Las manifestaciones clínicas durante los primeros años de vida suelen comprometer en forma más marcada las epífisis de los huesos. Se describe el caso de un lactante de 8 meses con diagnóstico de alergia a la proteína de la leche de vaca que presentó múltiples fracturas patológicas mientras se encontraba bajo tratamiento con fórmulas lácteas a base de aminoácidos. Se efectuó el diagnóstico de raquitismo hipofosfatémico por deficiencia de fósforo y, tras 3 meses de tratamiento con sales de fosfato, calcio, calcitriol, el abandono paulatino de la leche elemental y el descenso gradual de la medicación antiácida, el paciente evolucionó con curación clínico-radiológica del cuadro.
Asunto(s)
Hipersensibilidad a la Leche , Raquitismo , Deficiencia de Vitamina D , Animales , Calcio , Bovinos , Femenino , Humanos , Lactante , Fosfatos , Raquitismo/etiologíaRESUMEN
Fortification of food products with vitamin D was central to the eradication of rickets in the early parts of the 20th century in the United States. In the subsequent almost 100 years since, accumulating evidence has linked vitamin D deficiency to a variety of outcomes, and this has paralleled greater public interest and awareness of the health benefits of vitamin D. Supplements containing vitamin D are now widely available in both industrialized and developing countries, and many are in the form of unregulated formulations sold to the public with little guidance for safe administration. Together, this has contributed to a transition whereby a dramatic global increase in cases of vitamin D toxicity has been reported. Clinicians are now faced with the challenge of managing this condition that can present on a spectrum from asymptomatic to acute life-threatening complications. This article considers contemporary data on vitamin D toxicity, and diagnostic and management strategies relevant to clinical practice.
Asunto(s)
Lesión Renal Aguda/inducido químicamente , Suplementos Dietéticos/toxicidad , Raquitismo/prevención & control , Vitamina D/toxicidad , Lesión Renal Aguda/terapia , Anciano , Suplementos Dietéticos/provisión & distribución , Humanos , Hipercalcemia/inducido químicamente , Hipercalcemia/complicaciones , Hipercalcemia/diagnóstico , Hipercalcemia/terapia , Masculino , Raquitismo/epidemiología , Raquitismo/etiología , Resultado del Tratamiento , Vitamina D/efectos adversos , Vitamina D/uso terapéutico , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/tratamiento farmacológico , Privación de TratamientoRESUMEN
ABSTRACT This report describes the oral manifestations of renal tubular acidosis (RTA) associated with secondary rickets and discusses the biological plausibility of these findings. The characteristic electrolyte changes during RTA or genetic mutations that trigger RTA may be responsible for impaired amelogenesis, dental malocclusion, impacted teeth, and absent lamina dura. This report reinforces the possibility of an association between RTA and the oral manifestations described.
RESUMO Este relato de caso descreve as manifestações bucais da acidose tubular renal (ATR) associada ao raquitismo secundário e discute a plausibilidade biológica desses achados. As alterações eletrolíticas características da ATR ou as mutações genéticas que a desencadeiam podem ser responsáveis pela amelogênese imperfeita, maloclusão dentária, dentes impactados e ausência de lâmina dura. Este relato reforça a possibilidade de uma associação entre ATR e as manifestações bucais descritas.
Asunto(s)
Humanos , Femenino , Adolescente , Raquitismo/complicaciones , Raquitismo/etiología , Diente Impactado/etiología , Acidosis Tubular Renal/patología , Mordida Abierta/etiología , Hipoplasia del Esmalte Dental/etiología , Acidosis Tubular Renal/complicaciones , Radiografía Panorámica , AmelogénesisRESUMEN
This report describes the oral manifestations of renal tubular acidosis (RTA) associated with secondary rickets and discusses the biological plausibility of these findings. The characteristic electrolyte changes during RTA or genetic mutations that trigger RTA may be responsible for impaired amelogenesis, dental malocclusion, impacted teeth, and absent lamina dura. This report reinforces the possibility of an association between RTA and the oral manifestations described.
Asunto(s)
Acidosis Tubular Renal/patología , Hipoplasia del Esmalte Dental/etiología , Mordida Abierta/etiología , Raquitismo/complicaciones , Diente Impactado/etiología , Acidosis Tubular Renal/complicaciones , Adolescente , Amelogénesis , Femenino , Humanos , Radiografía Panorámica , Raquitismo/etiologíaRESUMEN
OBJECTIVES: Byler disease, originally described in Amish kindred, results from mutations in ATPase Class I Type 8b Member 1 (ATP8b1). Specific clinical reports of Amish Byler disease were last published 40 years ago. These investigations were directed at the present detailed clinical understanding of the early course of hepatic manifestations of Byler disease. METHODS: This study analyzed routine clinical practice and outcomes of children with Byler disease (defined by homozygous c.923G>T mutation in ATP8b1), who initially presented to Children's Hospital of Pittsburgh of UPMC between January 2007 and October 2014. Data were analyzed to the earlier of 24 months of age or partial external biliary diversion. RESULTS: Six children presented between 1 and 135 days of life: 2 presented with newborn direct hyperbilirubinemia, 2 had complications of coagulopathy, 1 had failure to thrive and rickets, and 1 sibling was identified by newborn genetic testing. Intensive fat-soluble vitamin supplementation was required to prevent insufficiencies in vitamins D, E, and K. Hyperbilirubinemia was variable both over time and between children. Serum bile acid levels were elevated, whereas γ-glutamyltranspeptidase levels were low normal. Scratching behavior (pruritus) was intractable in 4 of 6 children with onset between 6 and 12 months of age. Features of portal hypertension were not observed. Partial external biliary diversion was used during the second year of life in 4 children. CONCLUSIONS: Detailed analysis of Byler disease revealed varied disease presentation and course. Nutritional issues and pruritus dominated the clinical picture in the first 2 years of life.
Asunto(s)
Adenosina Trifosfatasas/genética , Conductos Biliares/patología , Colestasis Intrahepática/patología , Hígado/patología , Mutación , Avitaminosis/etiología , Ácidos y Sales Biliares/sangre , Conductos Biliares/cirugía , Colestasis Intrahepática/epidemiología , Colestasis Intrahepática/terapia , Insuficiencia de Crecimiento/epidemiología , Insuficiencia de Crecimiento/etiología , Pruebas Genéticas , Hospitales , Humanos , Hiperbilirrubinemia/epidemiología , Hiperbilirrubinemia/etiología , Incidencia , Lactante , Recién Nacido , Pennsylvania/epidemiología , Prevalencia , Prurito/etiología , Raquitismo/epidemiología , Raquitismo/etiología , gamma-Glutamiltransferasa/sangreRESUMEN
AIM: Hypocalcaemia evaluation of the clinical, biochemical and radiological features of 91 infants with rickets who presented as hypocalcaemic convulsions. SUBJECTS AND METHODS: Ninety-one hypocalcaemic infants who were brought to hospital with convulsion and diag-nosed with rickets related to vitamin D deficiency according to their clinical, biochemical and radio-logical features were retrospectively reviewed. RESULTS: Mean values of the laboratory data were as follows: calcium 5.55 ± 0.79 mg/dL, phosphorus 4.77 ± 1.66 mg/dL, alkaline phosphatase 1525.5 ± 925.4 U/L and parathormone 256.8 ± 158.3 pg/mL. Serum 25-OH vitamin D levels were below normal (< 20 ng/mL) in 37 infants. CONCLUSION: Vitamin D deficiency should be considered in infants presenting with hypocalcaemia. To avoid complications such as convulsions, clinicians should give vitamin D supplementation to such infants.
OBJETIVO: Evaluación hipocalcémica de los aspectos clínicos, bioquímicos y radiológicos de 91 lactantes con raquitismo, que presentaron convulsiones por hipocalcemia. PACIENTES Y MÉTODOS: Noventa y un lactantes hipocalcémicos llevados al hospital con convulsiones y a quienes se les diagnosticó raquitismo asociado a la deficiencia de vitamina D de acuerdo con sus características, bioquímicas y radiológicas, fueron revisados retrospectivamente. RESULTADOS: Los valores medios de los datos de laboratorio fueron los siguientes: calcio 5.55 ± 0.79 mg/dL, fósforo 4.77 ± 1.66 mg/dL, fosfatasa alcalina 1525.5 ± 925.4 U/L, y paratohormona 256.8± 158.3 pg/mL. Los niveles séricos de la vitamina 25 (OH) D estuvieron por debajo de lo normal en 37 lactantes (< 20 ng/mL). CONCLUSIÓN: La deficiencia de vitamina D debe considerarse en los infantes que se presentan con hipocalcemia. A fin de evitar complicaciones tales como convulsiones, se les debe dar suplementos de vitamina D.
Asunto(s)
Humanos , Masculino , Femenino , Recién Nacido , Lactante , Preescolar , Raquitismo/etiología , Convulsiones/etiología , Deficiencia de Vitamina D/complicaciones , Hipocalcemia/etiología , Hormona Paratiroidea/sangre , Fósforo/sangre , Convulsiones/sangre , Vitamina D/sangre , Biomarcadores/sangre , Calcio/sangre , Estudios Retrospectivos , Fosfatasa Alcalina/sangreAsunto(s)
Infecciones del Sistema Respiratorio/inmunología , Deficiencia de Vitamina D/complicaciones , Vitamina D/inmunología , Niño , Humanos , Inmunidad Innata/fisiología , Factores Inmunológicos/uso terapéutico , Infecciones del Sistema Respiratorio/etiología , Raquitismo/epidemiología , Raquitismo/etiología , Luz Solar , Tuberculosis/etiología , Tuberculosis/inmunología , Tuberculosis/terapia , Vitamina D/fisiología , Vitamina D/uso terapéutico , Deficiencia de Vitamina D/inmunologíaRESUMEN
O termo Acidose Tubular Renal (ATR) engloba diversas afecções caracterizadas por acidose metabólica secundária a um defeito na reabsorção tubular renal de HCO 3- e/ou na excreção urinária de H+, enquanto a função glomerular é nada ou minimamente afetada. Todas as formas de ATR apresentamacidose metabólica hiperclorêmica, com intervalo aniônico normal. São doenças crônicas com impacto significativo na qualidade de vida dos pacientesquando não tratadas adequadamente, podendo evoluir com déficit do crescimento, osteoporose, raquitismo, nefrolitíase e até perda da função renal.Podem ser primárias, decorrentes de defeitos genéticos nos mecanismos de transporte dos túbulos renais, ou secundárias a doenças sistêmicas ou aoefeito adverso de medicamentos. Neste artigo, é feita uma breve revisão da homeostase ácido-básica pelo rim, discutindo-se, a seguir, aspectos dafisiopatologia, diagnóstico e abordagem das acidoses tubulares renais em pediatria.
The term Renal Tubular Acidosis (RTA) defines many disorders characterized by metabolic acidosis, secondary to defects in renal tubular reabsorption ofHCO3 - and/or in urinary excretion of H+, while glomerular function is little or not affected. All forms of RTA present hyperchloremic metabolic acidosis, witha normal anion gap. When not adequately treated, these chronic diseases can have a significant impact on the quality of life of affected patients, and can evolve into growth failure, osteoporosis, rickets, nephrolithiasis and even renal insufficiency. These disorders can be primary, originating from genetic defectson tubular transport mechanisms, or can be secondary to systemic diseases and to adverse drug reactions. In this article, the mechanisms of acid-baseregulation by the kidney are briefly reviewed, followed by a presentation of the latest evidence regarding physiopathology, diagnosis and management ofrenal tubular acidosis in pediatric patients.
Asunto(s)
Masculino , Femenino , Niño , Acidosis Tubular Renal/complicaciones , Acidosis Tubular Renal/diagnóstico , Nefrocalcinosis/diagnóstico , Nefrocalcinosis/etiología , Nefrolitiasis/diagnóstico , Nefrolitiasis/etiología , Raquitismo/etiologíaRESUMEN
Vitamin D is essential for the maintenance of good health. Its sources can be skin production and diet intake. Most humans depend on sunlight exposure (UVB 290-315 nm) to satisfy their requirements for vitamin D. Solar ultraviolet B photons are absorbed by the skin, leading to transformation of 7-dehydrocholesterol into vitamin D3 (cholecalciferol). Season, latitude, time of day, skin pigmentation, aging, sunscreen use, all influence the cutaneous production of vitamin D3. Vitamin D deficiency not only causes rickets among children but also precipitates and exacerbates osteoporosis among adults and causes the painful bone disease osteomalacia. Vitamin D deficiency has been associated with increased risk for other morbidities such as cardiovascular disease, type 1 and type 2 diabetes mellitus and cancer, especially of the colon and prostate. The prevalence of hypovitaminosis D is considerable even in low latitudes and should be taken into account in the evaluation of postmenopausal and male osteoporosis. Although severe vitamin D deficiency leading to rickets or osteomalacia is rare in Brazil, there is accumulating evidence of the frequent occurrence of subclinical vitamin D deficiency, especially in elderly people.
Asunto(s)
Deficiencia de Vitamina D/complicaciones , Brasil , Femenino , Humanos , Masculino , Osteomalacia/etiología , Osteoporosis/etiología , Raquitismo/etiología , Estaciones del Año , Pigmentación de la Piel , Luz Solar , Vitamina D/sangre , Vitamina D/fisiología , Deficiencia de Vitamina D/prevención & controlRESUMEN
Vitamin D is essential for the maintenance of good health. Its sources can be skin production and diet intake. Most humans depend on sunlight exposure (UVB 290315 nm) to satisfy their requirements for vitamin D. Solar ultraviolet B photons are absorbed by the skin, leading to transformation of 7-dehydrocholesterol into vitamin D3 (cholecalciferol). Season, latitude, time of day, skin pigmentation, aging, sunscreen use, all influence the cutaneous production of vitamin D3. Vitamin D deficiency not only causes rickets among children but also precipitates and exacerbates osteoporosis among adults and causes the painful bone disease osteomalacia. Vitamin D deficiency has been associated with increased risk for other morbidities such as cardiovascular disease, type 1 and type 2 diabetes mellitus and cancer, especially of the colon and prostate. The prevalence of hypovitaminosis D is considerable even in low latitudes and should be taken into account in the evaluation of postmenopausal and male osteoporosis. Although severe vitamin D deficiency leading to rickets or osteomalacia is rare in Brazil, there is accumulating evidence of the frequent occurrence of subclinical vitamin D deficiency, especially in elderly people.
A vitamina D é essencial para a manutenção da saúde. A sua fonte principal é a pele ou pode ser ingerida com a dieta. A maioria dos seres humanos depende da exposição solar para adquirir quantidades suficientes de vitamina D. A radiação ultravioleta tipo B transforma o 7-dehidrocolesterol em vitamina D3 (colecalciferol). A época do ano, latitude, pigmentação da pele, idade e uso de filtros solares são fatores que influenciam a produção cutânea. Deficiência de vitamina D pode causar raquitismo e osteomalacia, exacerbar a perda óssea na osteoporose, como também pode associar-se a várias morbidades como doenças cardiovasculares, diabetes mellitus tipo 1 e 2, câncer de próstata e de intestino grosso. A prevalência de hipovitaminose D tem sido relatada com grande freqüência mesmo em regiões de baixa latitude e deve ser considerada na avaliação da osteoporose. Embora a deficiência severa levando a osteomalacia possa ser vista raramente no Brasil, evidências se acumulam da freqüente ocorrência de deficiência subclínica, especialmente em idosos.
Asunto(s)
Humanos , Masculino , Femenino , Deficiencia de Vitamina D/complicaciones , Brasil , Osteomalacia/etiología , Osteoporosis/etiología , Raquitismo/etiología , Estaciones del Año , Pigmentación de la Piel , Luz Solar , Deficiencia de Vitamina D/prevención & control , Vitamina D/sangreRESUMEN
An 11-year-old boy presented with a femur fracture, bone hypomineralization, and hypophosphatemia, suggesting tumor-induced rickets. Conventional radiologic techniques including magnetic resonance skeletal survey did not identify a tumor. Magnetic resonance gradient echo recall imaging demonstrated a 3-cm iliac tumor, the resection of which rapidly reversed metabolic abnormalities. This technique may be useful in identifying elusive tumors associated with tumor-induced rickets.
Asunto(s)
Neoplasias Óseas/diagnóstico , Factores de Crecimiento de Fibroblastos/análisis , Hemangiopericitoma/diagnóstico , Ilion , Imagen por Resonancia Magnética/métodos , Neoplasias Óseas/complicaciones , Neoplasias Óseas/metabolismo , Neoplasias Óseas/cirugía , Niño , Factor-23 de Crecimiento de Fibroblastos , Factores de Crecimiento de Fibroblastos/sangre , Hemangiopericitoma/complicaciones , Hemangiopericitoma/metabolismo , Hemangiopericitoma/cirugía , Humanos , Masculino , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Raquitismo/etiologíaRESUMEN
To study the 'in vivo' importance of vitamin D on the natural killer (NK) activity, rats were submitted to privational rickets induced by a diet deficient in vitamin D and phosphorus (D-P-). Thirty days after the beginning of treatment the animals showed low body weight, changes in the bone development, and decreased levels of 25-hydroxyvitamin D(3) (25-OH D(3)). NK activity, evaluated using a cytotoxicity assay against 51Cr-labeled Yac.1 target cells, was not modified by the rickets-inducing treatment during the first 30 days. Following a long-term treatment (60 days) the rachitic rats (D-P-) exhibited higher NK activity than control animals (D+P+) (P<0.05). On the other hand, D-P+ animals showed higher cytotoxic activity than D-P- and D+P+ groups. Feed replacement to the rachitic rats by a complete diet (D-P-/D+P+) led to a partial recuperation of growth, bone development, and 25-OH D(3) serum levels. The NK activity was also influenced by vitamin D intake, decreasing after treatment.
Asunto(s)
Células Asesinas Naturales/inmunología , Raquitismo/inmunología , Deficiencia de Vitamina D/complicaciones , Animales , Desarrollo Óseo , Calcifediol/sangre , Células Cultivadas , Colecalciferol/farmacología , Pruebas Inmunológicas de Citotoxicidad , Dieta , Cinética , Masculino , Fósforo/administración & dosificación , Ratas , Ratas Endogámicas Lew , Raquitismo/etiología , Raquitismo/patología , Bazo/citología , Bazo/inmunología , Células Tumorales Cultivadas , Aumento de PesoAsunto(s)
Raquitismo/etiología , Calcifediol/sangre , Femenino , Humanos , Lactante , Recién Nacido , Madres , Nigeria , Raquitismo/sangreRESUMEN
OBJECTIVE: Because the causes of nutritional rickets in tropical countries are poorly understood, we conducted a case-control study to determine factors associated with rickets in Nigerian children. STUDY DESIGN: We compared 123 Nigerian children who had rickets with matched control subjects. Dietary, demographic, anthropometric, and biochemical data were collected to assess factors related to calcium and vitamin D status, which might predispose children to rickets. RESULTS: Mean (+/- SD) daily dietary calcium intake was low in both children with rickets and control children (217 +/- 88 mg and 214 +/- 77 mg, respectively; P =.64). Children with rickets had a greater proportion of first-degree relatives with a history of rickets (14.6% vs 3.1%; P <.001), a shorter mean duration of breast-feeding (16.0 vs 17.3 months; P =.041), and a delayed age of walking (14 vs 12 months; P <.001). Among children with rickets, biochemical features suggestive of calcium deficiency included hypocalcemia, extremely low calcium excretion, and elevated 1, 25-dihydroxyvitamin D and parathyroid hormone values. Median 25-hydroxyvitamin D concentrations were 32 and 50 nmol/L (13 and 20 ng/mL) in children with rickets and control children, respectively (P <.0001). Only 46 subjects with rickets (37%) had 25-hydroxyvitamin D values <30 nmol/L (12 ng/mL). CONCLUSIONS: Vitamin D deficiency appears unlikely to be the primary etiologic factor of rickets in African children. Moreover, low dietary calcium intake alone does not account for rickets. Insufficient dietary calcium probably interacts with genetic, hormonal, and other nutritional factors to cause rickets in susceptible children.