RESUMO
Despite early medical intervention, children with hypophosphatemic rickets often have progressive deformities in the lower extremities. With the forces imparted by gravity and weight bearing, varus or valgus deformities that might otherwise have been physiological are likely to progress, causing gait disturbance and pain. Proper medical management is important and may theoretically slow or prevent the progression of varus or valgus, but is ineffective at correcting deformity once established. We have reviewed the literature and gathered a series of 10 patients, most of whom underwent hemiepiphysiodesis. We are presenting the rationale for, and the results of, that surgery, in an effort to define the role of this minimally invasive procedure.
Assuntos
Epífises/cirurgia , Hipofosfatemia Familiar/cirurgia , Deformidades Articulares Adquiridas/cirurgia , Procedimentos Ortopédicos , Grampeamento Cirúrgico , Adolescente , Feminino , Fêmur/cirurgia , Humanos , Hipofosfatemia Familiar/complicações , Hipofosfatemia Familiar/diagnóstico por imagem , Deformidades Articulares Adquiridas/etiologia , Masculino , Procedimentos Cirúrgicos Minimamente Invasivos , Radiografia , Tíbia/cirurgiaRESUMO
The epidermal nevus syndrome is the association of epidermal nevi with abnormalities in other organ systems, most commonly the central nervous system, the skeletal system, and the eyes. We present a patient with epidermal nevus syndrome associated with hypophosphatemic vitamin D-resistant rickets and multiple adnexal and spindle cell tumors.
Assuntos
Hipofosfatemia Familiar/metabolismo , Neoplasias de Anexos e de Apêndices Cutâneos/patologia , Neoplasias Primárias Múltiplas/patologia , Nevo de Células Epitelioides e Fusiformes/patologia , Neoplasias Cutâneas/patologia , Criança , Feminino , Humanos , Hipofosfatemia/metabolismo , Hipofosfatemia Familiar/complicações , Neoplasias de Anexos e de Apêndices Cutâneos/complicações , Nevo , Nevo de Células Epitelioides e Fusiformes/complicações , Nevo Pigmentado , Pele , Neoplasias Cutâneas/complicações , SíndromeRESUMO
The X-linked hypophosphatemic rickets is a rare metabolic disorder characterized by low serum phosphate levels caused by a decreased renal tubular reabsorption of inorganic phosphates. The initial complaints are a delay in the development of walking caused by deformity of the legs. Oral findings include poorly mineralized dentin, enlarged pulp chambers and root canals, and periradicular abscesses in caries-free teeth. We present three patients from the same family with X-linked hypophosphatemic rickets showing bone and dental alterations.
Assuntos
Hipofosfatemia Familiar/complicações , Anormalidades Dentárias/etiologia , Adulto , Criança , Necrose da Polpa Dentária/etiologia , Necrose da Polpa Dentária/terapia , Prótese Total , Feminino , Humanos , Masculino , Abscesso Periapical/etiologia , Tratamento do Canal Radicular , Anormalidades Dentárias/terapiaRESUMO
OBJECTIVE: To evaluate the dental effects of 1-hydroxylated vitamin D3 treatment in patients with familial hypophosphatemic vitamin D-resistant rickets. Study design Forty-eight children and adult patients were included in the study; 16 had received no treatment or phosphate supplements with vitamin D/25-(OH) D3 before puberty. The 32 younger ones had received phosphate supplements with 1alpha-(OH)D3 from infancy. All patients were clinically examined, and panoramic and periapical radiographs were made. Evaluations of decayed, missing, or filled teeth and decayed or filled teeth indexes and of pulp ratios allowed comparison with healthy age-matched control patients. RESULTS: Poor dental health and characteristic dental anomalies were found in the 16 older patients. In contrast, the 32 younger patients had a normal dental status as regards reference ranges in healthy age-matched populations, although they still showed prominent pulp horns on deciduous teeth and increased pulp area/tooth area ratios. CONCLUSIONS: This investigation shows the beneficial effects of 1alpha-(OH)D3 treatment on the dental status of vitamin D-resistant rickets patients and emphasizes the necessity of early treatment. Remaining defects may result from early exposure of odontoblasts and surrounding osteoblasts to hypophosphatemia, before the commencement of treatment, and/or from intrinsic cell disturbances linked to the genetic alteration(s).
Assuntos
Calcitriol/uso terapêutico , Hipofosfatemia Familiar/tratamento farmacológico , Anormalidades Dentárias/prevenção & controle , Doenças Dentárias/prevenção & controle , Adolescente , Adulto , Criança , Pré-Escolar , Índice CPO , Feminino , Humanos , Hipofosfatemia Familiar/complicações , Masculino , Pessoa de Meia-Idade , Radiografia Panorâmica , Anormalidades Dentárias/complicações , Doenças Dentárias/complicaçõesRESUMO
El raquitismo hipofosfatémico es una alteración metabólica transmitida genéticamente (ligada al cromosoma X) en donde disminuye la reabsorción de fosfato en el túbulo proximal. Esta enfermedad se manifiesta con defectos en la mineralización de los tejidos esquelético y dentario. El caso clínico presentado en este artículo corresponde a un niño de 8 años de edad con eta alteración en la que se observan deformidades en las extremidades inferiores (piernas arqueadas), disminución de su talla y bucalmente en los tejidos blandos, se aprecia gingivitis generalizada y sondajes periodontales no mayores de 2 mm. En el aspecto dentario existe una relación molar en clase II de Angle, con pérdida prematura de los molares temporales y por consecuencia, erupción prematura de los premolares permanentes. Debido a la asociación con la deficiente formación dentaria y la historia familiar, podríamos suponer una asociación entre raquitismo hipofosfatémico y las periodontitis de inicio precoz
Assuntos
Humanos , Masculino , Criança , Hipofosfatemia Familiar/complicações , Hipofosfatemia Familiar/diagnóstico , Doenças Maxilomandibulares/etiologia , Anormalidades Dentárias/etiologia , Anormalidades Musculoesqueléticas/etiologia , Anormalidades Musculoesqueléticas/genética , Chile , Deformidades Congênitas dos Membros/etiologia , Deformidades Congênitas dos Membros/genética , Hipofosfatasia/diagnóstico , Hipofosfatasia/etiologia , Má Oclusão Classe II de Angle/etiologia , Equipe de Assistência ao Paciente , Perda de Dente/etiologiaRESUMO
A 9-year-old boy with X-linked hypophosphatemic rickets had a recurring oral giant cell lesion. These lesions are relatively uncommon in children and represent a potentially aggressive disorder that is microscopically indistinguishable from the brown tumors of hyperparathyroidism. Subclinical hyperparathyroidism is not uncommon in X-linked hypophosphatemic rickets and may account for the giant cell lesion in this patient.
Assuntos
Granuloma de Células Gigantes/diagnóstico , Hiperparatireoidismo/diagnóstico , Hipofosfatemia Familiar/diagnóstico , Biópsia , Criança , Diagnóstico Diferencial , Gengiva/patologia , Granuloma de Células Gigantes/etiologia , Granuloma de Células Gigantes/patologia , Humanos , Hiperparatireoidismo/complicações , Hiperparatireoidismo/patologia , Hipofosfatemia Familiar/complicações , Hipofosfatemia Familiar/patologia , Masculino , RecidivaRESUMO
To investigate the biochemical nature of nephrocalcinosis in children with hypophosphatemic rickets treated with orally administered phosphate and vitamin D, we studied five such patients, aged 3.7 to 12.3 years, during treatment and again 3 days after it had been discontinued. Treatment was associated with significant increases in mean serum phosphate concentration and urine phosphate/creatinine ratio, from 0.71 to 1.03 mmol/L and from 3.61 to 9.42 mmol/mmol, respectively. Significant correlation was found between urine phosphate/creatinine and oxalate/creatinine ratios (r = 0.670; p less than 0.01); however, the mean urine oxalate/creatinine ratio of 65.0 mumol/mmol while patients were taking phosphate orally was not significantly different from the ratio of 59.0 mumol/mmol when treatment was discontinued. Kidney biopsy specimens from three of the patients showed that the renal calcifications were located mainly intratubularly and were composed exclusively of calcium phosphate. In a further investigation of the nature of phosphate-induced nephrocalcinosis, six 6-week-old male Hyp mice, the murine analog of the human disease, received oral phosphate therapy with drinking water for 48 days; six others served as control animals. Mice in the experimental group excreted more phosphate (p less than 0.001) and less calcium (p less than 0.01) than control mice did, and medullary nephrocalcinosis, with a high kidney calcium content, developed (p less than 0.001). Histologic sections showed that the renal calcifications were located intratubularly and were composed of calcium phosphate. We conclude that, both in children with hypophosphatemic rickets and in the Hyp mouse, the development of nephrocalcinosis is associated with high oral phosphate intake and subsequent deposition of calcium phosphate precipitates in the kidney.
Assuntos
Calcitriol/uso terapêutico , Hipofosfatemia Familiar/complicações , Rim/química , Nefrocalcinose/etiologia , Fosfatos/uso terapêutico , Animais , Fosfatos de Cálcio/análise , Criança , Feminino , Humanos , Hipofosfatemia Familiar/tratamento farmacológico , Masculino , Camundongos , Camundongos Endogâmicos , Nefrocalcinose/metabolismo , Nefrocalcinose/patologiaRESUMO
This study was aimed at detecting the early appearance of myelofibrosis by bone marrow biopsy examination in children with vitamin D-deficiency rickets. Twelve children, aged 4 to 18 months, were evaluated. Only a minimal increase of the reticulin was shown in rachitic children without anemia in whom no other laboratory evidence of myelofibrosis was present. Early signs of myelofibrosis with increase of reticulin were present in rachitic infants with anemia. In patients of the same age with iron deficiency anemia, the bone marrow reticulin findings were normal. Bone marrow biopsy after successful treatment of rickets could be repeated in one patient with myelofibrosis; results indicated that the myelofibrosis with anemia associated with vitamin D-deficiency rickets is reversible by vitamin D treatment.
Assuntos
Hipofosfatemia Familiar/complicações , Mielofibrose Primária/diagnóstico , Anemia Hipocrômica/sangue , Biópsia , Medula Óssea/patologia , Feminino , Humanos , Hipofosfatemia Familiar/sangue , Lactente , Masculino , Metaplasia/patologia , Mielofibrose Primária/sangue , Mielofibrose Primária/patologiaRESUMO
Renal ultrasonography was performed on 23 patients with X-linked hypophosphatemic rickets (XLH) and 11 patients with autosomal recessive vitamin D-dependent rickets (ARVDD). A pattern of increased echogenicity of the renal pyramids (ERP) was identified in 11/23 patients with XLH and 3/11 patients with ARVDD; this ultrasonographic finding has previously been associated with medullary nephrocalcinosis. Patients with XLH and ERP had significantly higher mean serum calcium and phosphate concentrations, more frequent episodes of hypercalcemia, and higher doses of oral vitamin D and phosphate during the first 3 years of therapy. Episodes of hypercalcemia were more frequent when patients received higher doses of vitamin D2 (greater than 4000 IU/kg/day) or 1,25-dihydroxycholecalciferol (greater than 40 ng/kg/day). Episodes of hypercalciuria were significantly increased at doses of greater than 20 ng/kg/day 1,25-dihydroxycholecalciferol. In patients with ARVDD, ERP was also correlated with vitamin D dose and frequency of hypercalcemia episodes. ERP was not associated with an elevation of serum creatinine or loss of urinary concentrating ability in either patient group.
Assuntos
Nefrocalcinose/etiologia , Raquitismo/tratamento farmacológico , Adolescente , Adulto , Cálcio/sangue , Cálcio/urina , Criança , Pré-Escolar , Feminino , Humanos , Hipercalcemia/complicações , Hipofosfatemia Familiar/complicações , Hipofosfatemia Familiar/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Nefrocalcinose/diagnóstico , Fosfatos/uso terapêutico , Estudos Retrospectivos , Raquitismo/complicações , Ultrassonografia , Vitamina D/uso terapêuticoRESUMO
Säo relatados os aspectos clínicos de um caso de Síndrome de Miller Fisher, associado a hipofosfatemia. É feita uma revisäo de literatura
Assuntos
Adulto , Humanos , Masculino , Ataxia/complicações , Hipofosfatemia Familiar/complicações , Oftalmoplegia/complicações , Nutrição Parenteral , SíndromeRESUMO
A severe form of vitamin D-resistant rickets is associated with the linear sebaceous nevus syndrome. We investigated the pathophysiology underlying defective bone mineralization in two individuals and examined the effects of 1,25-dihydroxyvitamin D (1,25(OH)2D, calcitriol) therapy on the clinical and biochemical abnormalities. Both patients had fasting hypophosphatemia, markedly diminished TmP/GFR, and elevated alkaline phosphase activity in the presence of normocalcemia. Before treatment with calcitriol, serum 1,25(OH)2D concentrations were reduced but serum 25-hydroxyvitamin D (25(OH)D) concentrations were normal. Administration of calcitriol increased serum 1,25(OH)2D concentrations and led to an increase in TmP/GFR and serum phosphorus levels and to a decrease in alkaline phosphatase activity. However, the renal tubular maximum for reabsorption of inorganic phosphate, normalized according to glomerular filtration rate, and serum phosphorus levels remained abnormally low even in the patient who also received phosphate supplementation. Bone histomorphologic studies in the adult patient showed extreme osteomalacia, which partially improved with calcitriol. These data demonstrate that the putative skin lesion-derived factor results in both a renal tubular defect in phosphate reabsorption and in 1,25-(OH)2 D deficiency. The vitamin D-resistant rickets of linear sebaceous nevus syndrome is a variant of tumor-induced osteomalacia.
Assuntos
Hipofosfatemia Familiar/complicações , Nevo Pigmentado/complicações , Osteomalacia/complicações , Fosfatos/sangue , Neoplasias das Glândulas Sudoríparas/complicações , Adulto , Fosfatase Alcalina/sangue , Calcitriol/sangue , Calcitriol/uso terapêutico , Cálcio/sangue , Criança , Feminino , Humanos , Hidroxicolecalciferóis/sangue , Hipofosfatemia Familiar/tratamento farmacológico , Masculino , Osteomalacia/tratamento farmacológico , Fósforo/metabolismo , Fósforo/uso terapêutico , SíndromeAssuntos
Raquitismo/etiologia , Acidose Tubular Renal/complicações , Cálcio/sangue , Criança , Pré-Escolar , Ergocalciferóis/uso terapêutico , Feminino , Humanos , Hipofosfatemia Familiar/complicações , Lactente , Masculino , Fosfatos/sangue , Raquitismo/tratamento farmacológico , Deficiência de Vitamina D/complicaçõesAssuntos
Acidose Tubular Renal/fisiopatologia , Túbulos Renais , Acidose Tubular Renal/etiologia , Acidose Tubular Renal/genética , Acidose Tubular Renal/metabolismo , Cálcio/metabolismo , Criança , Pré-Escolar , Nefropatias Diabéticas/complicações , Feminino , Glicosúria/complicações , Humanos , Hipofosfatemia Familiar/complicações , Lactente , Nefropatias/etiologia , Túbulos Renais/fisiopatologia , MasculinoRESUMO
Rickets with alopecia, an inborn error of vitamin D metabolism, is described in two sisters. The rachitic disorder began during the first year of life and was refractory to 50,000 IU of vitamin D2/day. Surprisingly, both children had marked elevations in serum concentrations of 1,25-(OH)2D. Although the molecular basis for this disorder is not evident to date, intestinal end-organ unresponsiveness to exceedingly high levels of 1,25-(OH)2D was present, in addition to hyporesponsiveness of bone to these high levels of the hormone, since normocalcemia was maintained despite elevated serum levels of PTH. Therapy with oral 1,25-(OH)2D3 failed to reverse the disorder, but oral phosphorus supplements resulted in significant radiographic and clinical improvement.