ABSTRACT
El raquitismo hipofosfatémico hereditario es una condición genética asociada con una mineralización ósea alterada causada por la deficiencia de fosfato. Produce deformidad esquelética y retraso del crecimiento en la infancia. Se describen diferentes patrones de herencia según el locus involucrado. Dado el solapamiento de los fenotipos y la dificultad en analizar genealogías reducidas, los estudios moleculares son importantes para establecer la causa genética y realizar el abordaje familiar. La forma recesiva del raquitismo hipofosfatémico (ARHR, OMIM #241520) es una condición extremadamente poco frecuente reportada en familias de origen europeo y de Oriente Medio. Las mutaciones con pérdida de función del gen DMP1 (dentin matrix acidic phosphoprotein 1) se asocian al raquitismo hipofosfatémico hereditario tipo 1. En este artículo presentamos el primer reporte de una familia argentina con raquitismo hipofosfatémico hereditario por mutación en DMP1
Hereditary hypophosphatemic rickets is a genetic condition associated with impaired bone mineralization caused by phosphate deficiency. It results in skeletal deformity and growth retardation in early childhood. Different inheritance patterns have been described according to the locus involved. Given the phenotypic overlapping and the difficulty in analyzing reduced genealogies, molecular studies are important to establish the genetic cause and implement a family-centered approach. The autosomal recessive form of hypophosphatemic rickets (ARHR, OMIM 241520) is an extremely rare condition reported in families of European and Middle Eastern descent. Loss-of-function mutations in the DMP1 (dentin matrix acidic phosphoprotein 1) gene are associated with hereditary hypophosphatemic rickets type 1. In this article, we describe the first report of an Argentine family with hereditary hypophosphatemic rickets due to a mutation in the DMP1 gene.
Subject(s)
Humans , Male , Infant , Familial Hypophosphatemic Rickets/genetics , Argentina , Calcification, Physiologic , MutationABSTRACT
ABSTRACT: The term rickets refers to insufficient or retarded mineralization of the osteoide matrix. X-linked hypophosphatemic (XLH) rickets is a rare genetic disorder characterized by biochemical changes in bone mineralization due to inactivation of the phosphate regulating gene and primary defect of the osteoblasts. The aim of this article was to report a clinical case of XLH, its oral manifestations, periapical changes and dental management. A 31-year old woman female patient was referred to the school of dentistry with pain and sensitivity in the teeth. She had a childhood history of rickets, hypophosphatemia and alteration in Vitamin D. In the oral exam, enamel hypoplasia, microdontia, fistula, caries and periapical lesions and periodontal disease were diagnosed. The radiographic and tomographic exams exhibited the presence of periapical lesions involving various teeth with radiolucent images, suggestive of granuloma or periapical cysts. The treatme nt prioritized the urgency of eliminating pain and removing the foci of infection. Endodontic treatment began in the teeth that had fistula or periapical lesions and in parallel, oral hygiene guidance was provided and periodontal treatment was performed. There was an improvement in the clinical condition with reduction in inflammation and mobility of the teeth. Dentists and health professionals must evaluate the patient as a whole, considering the relations between systemic and oral health. Knowledge of systemic diseases associated with rickets and their characteristics is essential for making a correct oral diagnosis and planning the dental treatment.
RESUMEN: El término raquitismo se refiere a la mineralización insuficiente o retardada de la matriz osteoide. El raquitismo hipofosfatémico ligado al cromosoma X (XLH) es un trastorno genético caracterizado por cambios bioquímicos en la mineralización ósea debido a la inactivación del gen regulador del fosfato y al defecto primario de los osteoblastos. El objetivo de este artículo fue reportar un caso clínico de XLH, sus manifestaciones orales, cambios periapicales y manejo dental. La paciente, una mujer de 31 años, acudió a la Clínica de Semiología de la UFPR con dolor y sensibilidad en varios dientes. Tenía antecedentes infantiles de raquitismo, hipofosfatemia y alteración de la vitamina D. En el examen oral se diagnosticó hipoplasia del esmalte, microdoontia, fístula, caries y lesiones periapicales y enfermedad periodontal. Los exámenes radiográficos y tomográficos mostraron la presencia de lesiones periapicales en varios dientes con imágenes radiolúcidas, sugestivas de granuloma o quistes periapicales. El tratamiento priorizó la urgencia de eliminar el dolor y remover los focos de infección. Se inició tratamiento de endodoncia en los dientes que presentaban fístula o lesiones periapicales y paralelamente se brindó orientación de higiene oral y se realizó tratamiento periodontal. Hubo una mejoría en la condición clínica con reducción de la inflamación y movilidad de los dientes. Los odontólogos y profesionales de la salud deben evaluar al paciente como un todo, teniendo en cuenta las relaciones entre salud sistémica y oral. El conocimiento de las enfermedades sistémicas asociadas al raquitismo y sus características es fundamental para realizar un correcto diagnóstico oral y planificar el tratamiento odontológico.
ABSTRACT
Abstract Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinical case of a 4-year-old girl with unremarkable family history, who presented with failure to thrive and bowing of the legs. Laboratory tests showed hypophosphatemia, elevated alkaline phosphatase, normal calcium, mildly elevated PTH and normal levels of 25(OH)D and 1.25(OH)D. The radiological study showed bone deformities of the radius and femur. Clinical diagnosis of phosphopenic rickets was made and the genetic study detected a heterozygous likely pathogenic variant of the PHEX gene: c.767_768del (p.Thr256Serfs*7). This variant was not previously described in the literature or databases. Knowledge about new mutations can improve patient's outcome. Genetic analysis can help to establish a genotype-phenotype correlation.
Resumo O raquitismo fosfopênico pode ser causado por mutações no gene PHEX (ligado ao X do homólogo da endopeptidase que regula o fosfato). Atualmente, mais de 500 mutações no gene PHEX causam raquitismo hipofosfatêmico. Os autores relatam um caso clínico de uma menina de 4 anos com histórico familiar sem relevância, que apresentou falha no crescimento e arqueamento das pernas. Os exames laboratoriais mostraram hipofosfatemia, fosfatase alcalina elevada, cálcio normal, PTH levemente elevado e níveis normais de 25(OH)D e 1,25(OH)D. O estudo radiológico mostrou deformidades ósseas no rádio e no fêmur. O diagnóstico clínico do raquitismo fosfopênico foi realizado e o estudo genético detectou uma provável variante patogênica heterozigótica do gene PHEX: c.767_768del (p.Thr256Serfs*7). Esta variante não foi descrita anteriormente na literatura ou nas bases de dados. O conhecimento sobre novas mutações pode melhorar o desfecho de pacientes. A análise genética pode ajudar a estabelecer uma correlação genótipo-fenótipo.
Subject(s)
Humans , Female , Child, Preschool , Bone Diseases , Hypophosphatemia , Familial Hypophosphatemic Rickets/diagnosis , Familial Hypophosphatemic Rickets/genetics , PHEX Phosphate Regulating Neutral Endopeptidase/genetics , MutationABSTRACT
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
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 Ìs 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.
Subject(s)
Humans , Male , Infant , Rickets, Hypophosphatemic/diagnostic imaging , Vitamin D Deficiency , Milk Hypersensitivity , Infant Formula , Rickets, Hypophosphatemic/therapy , Amino AcidsABSTRACT
Abstract Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. Both siblings improved with calcitriol supplementation. The initial presentation of VDDR is often confusing and algorithmic evaluation helps in diagnosis. We also present a brief review of the literature, including genetics.
Resumo Dois irmãos apresentaram características clínicas e bioquímicas do raquitismo, com suspeita clínica inicial de raquitismo hipofosfatêmico. Não houve melhora no início, portanto os irmãos foram reavaliados e, posteriormente, diagnosticados com raquitismo dependente de vitamina D (VDDR) tipo 1 devido a uma rara mutação no gene CYP27B1, que codifica a enzima 1a-hidroxilase. Ambos os irmãos melhoraram com a suplementação de calcitriol. A apresentação inicial do VDDR geralmente é confusa e a avaliação algorítmica ajuda no diagnóstico. Também apresentamos uma breve revisão da literatura, incluindo genética.
Subject(s)
Humans , Familial Hypophosphatemic Rickets/diagnosis , Familial Hypophosphatemic Rickets/genetics , 25-Hydroxyvitamin D3 1-alpha-Hydroxylase/genetics , Vitamin D , Siblings , MutationABSTRACT
Objective: To describe the prevalence of oral manifestations of hypophosphatemic rickets in patients treated in a Peruvian referral pediatric hospital during the years 2012-2016. Material and methods: An observational, descriptive, retrospective, cross-sectional study was carried out. The sample consisted of patients diagnosed with hypophosphatemic rickets who attended the outpatient clinic of the Stomatology Service and the Genetics Service of the National Institute of Child Health (INSN), Lima, Peru, between the years 2012-2016. The research project was assessed and approved by the Research Ethics Committee of the Health Service. Medical records stored in a database of the health institution with the Code CIE E83.3, which corresponds to the diagnosis of Hypophosphatemic Rickets, were requested for the study. Results: Fifteen children received health care, of which only 10 were treated at the Stomatology Service. The distribution of the data was obtained from these 10 patients according to the proposed objective. A higher frequency of gingival lesions was found at the soft tissue level (41.18%); at the bone tissue level, only one case of dentigerous cyst was observed; and at the dental level, 90% of the patients had dental caries. Conclusion: The most frequent oral manifestations of hypophosphatemic rickets in pediatric patients treated at the National Institute of Child Health (2012-2016) were gingivitis and dental caries.
Objetivo:Describir la prevalencia de las manifestaciones bucales del raquitismo hipofosfatémico de pacientes atendidos en un hospital pediátrico de referencia peruano durante los años 2012-2016. Material y Métodos:Se realizó un estudio tipo observacional, descriptivo, retrospectivo, transversal. Para la selección de la muestra se consideró a los pacientes que acudieron a la consulta externa del Servicio de Odontoestomatología y el Servicio de Genética del Instituto Nacional de Salud del Niño, Lima, Perú; en el periodo comprendido entre los años 2012-2016 y que presentaron como diagnóstico Raquitismo Hipofosfatémico. El proyecto de investigación fue evaluado por un Comité de Ética en Investigación del servicio de salud. Se solicitaron las historias clínicas consignadas en una base de datos de la institución de salud con el Código CIE E83.3, que corresponde a este diagnóstico. Resultados: Fueron atendidos 15 niños, de los cuales solo 10 fueron tratados en el Servicio Odontoestomatología; siendo de estos 10 pacientes la distribución de los datos obtenidos según el objetivo propuesto. Se encontró mayor frecuencia de lesiones a nivel de tejido blando de gingivitis con 41.18%, a nivel de tejido óseo solo se presentó un caso de quiste dentígero; y a nivel de tejido dental el 90% de los pacientes presentó caries dental. Conclusión: Las manifestaciones bucales más frecuentes del raquitismo hipofosfatémico de pacientes pediátricos atendidos en el Instituto Nacional de Salud del Niño (2012-2016), fueron la gingivitis y caries dental.
Subject(s)
Humans , Male , Female , Tooth Diseases/etiology , Rickets, Hypophosphatemic/complications , Rickets, Hypophosphatemic/epidemiology , Oral Manifestations , Peru , Tooth Diseases/epidemiology , Dental Caries/etiology , Gingivitis/etiologyABSTRACT
RESUMO Objetivo: O raquitismo hipofosfatêmico precisa ser precocemente diagnosticado porque seu tratamento previne sequelas incapacitantes. Este relato alerta para a doença. Relato de caso: Relato de perfil metabólico, depuração de creatinina, estado nutricional e desenvolvimento pôndero-estatural de paciente com características clínico-laboratoriais de raquitismo hipofosfatêmico, atendido em ambulatório de tubulopatias por período de 12 meses. Chegou ao serviço após tempo prolongado acamado, dependente de ventilação mecânica e com perfil metabólico ósseo alterado. Terapêutica consistiu na administração de fósforo (inicial: 65 mg/kg/dia, final: 24,2 mg/kg/dia), cálcio (inicial: 127 mg/kg/dia, final: 48,4 mg/kg/dia) e calcitriol (inicial: 0,06 mcg/kg/dia, final: 0,03 mcg/kg/dia), e a análise constou da descrição das consultas, utilizando-se mediana de exames laboratoriais e dados antropométricos. Observou-se nítida melhora inicial do padrão respiratório do paciente, que evoluiu com ventilação espontânea e deambulação autônoma; com exames laboratoriais: cálcio (mg/dL) inicial 7,1, final 10,1; fósforo (mg/dL) inicial 1,7, final 3,2; magnésio (mg/dL) inicial 1,5, final 2,1; paratormônio (pg/L) inicial 85,8, final 52,7; fosfatase alcalina (UI/L) inicial 12660, final 938; e melhora do desenvolvimento pôndero-estatural (escore Z: E/I inicial: -6,05, final -3,64; P/I: inicial -2,92, final -1,57) com presença de litíase transitória. A depuração de creatinina (mL/min/1,73 m2sc) foi constante durante o seguimento. O tratamento propiciou benefícios clínicos, bioquímicos e nutricionais, mas, apesar da boa resposta inicial, a família abandonou o seguimento por dois anos, apresentando o paciente piora da deambulação e das deformidades esqueléticas. Comentários: Não apenas diagnóstico precoce é necessário, como também a adesão ao tratamento é fundamental para o sucesso na condução dessa patologia.
ABSTRACT Objective: Early diagnosis and immediate treatment of hypophosphatemic rickets is of utmost importance as it may prevent subsequent sequelae. This report aims at warning pediatricians to consider the presence of the disease. Case description: Description of the metabolic profile, creatinine clearance, nutritional status, weight and body structure of a patient who presented the clinical-laboratorial characteristics of hypophosphatemic rickets and was followed in an outpatient clinic for tubulopathies over the period of 12 months. The patient had been bedridden for some time, was dependent on mechanical ventilation and presented an altered metabolic bone condition. Treatment was phosphate (initial: 65 mg/kg/day and final: 24,2 mg/kg/day), calcium (initial: 127 mg/kg/day, final: 48,4 mg/kg/day) and calcitriol (initial: 0.06 mcg/kg/day, final: 0.03 mcg/kg/day). The patient improved, evolving into spontaneous breathing and walking unaided. Laboratory results: calcium (mg/dL) initial 7.1, final 10.1; phosphate (mg/dL) initial 1.7 final 3.2; magnesium (mg/dL) initial 1.5 final 2.1, parathyroid hormone (pg/l) initial 85.8, final 52.7, alkaline phosphatase (UI/l) initial 12660, final 938; there was also improvement in weight/structural development (Z score: H/A initial: -6.05, final -3.64; W/A: initial -2.92, final -1.57) with presence of transitory gallstones. Creatinine clearance (mL/min/1.73m2bsa) was constant. The medication improved his laboratory results and nutritional status, but the patient did not return for two years for follow-up and, during this period, his condition has noticeably deteriorated. Comments: Early diagnosis and follow-up are essential in dealing with this pathology.
Subject(s)
Humans , Male , Infant , Child , Rickets, Hypophosphatemic/diagnosisABSTRACT
El raquitismo es un trastorno causado por una falta de vitamina D, calcio o fósforo, que lleva a que se presente reblandecimiento y debilitamiento de los huesos. Los raquitismos resistentes son un conjunto heterogéneo de enfermedades denominadas así porque, aunque presentan clínica y radiografía típicas del raquitismo carencial, no responden al tratamiento convencional con vitamina D. Dentro de estos últimos se encuentra el raquitismo hipofosfatémico, enfermedad genética que puede expresarse con varios desórdenes. Se presenta el caso de una niña de tres años de edad que se remitió a consulta de genética clínica por baja talla y deformidad en ambas piernas. Después del interrogatorio y el examen físico, se realizó estudio radiológico y química sanguínea, con lo que se llegó al diagnóstico de esta enfermedad. Se considera valioso realizar diagnóstico oportuno que beneficie el seguimiento y tratamiento en equipo multidisciplinario, que permita, además, brindar un adecuado asesoramiento genético a los familiares, razones por las cuales se decidió la presentación del caso.
Rickects is a disturbance caused by a lack of vitamine D, calcium or phosphorus which leads to bone softening and weakening. Resistant rickects are a heterogeneous group of diseases so called because they show clinical and radigraphic characteristics which are typical of a deficency rickects, there is no response to tretament with vitamine D. Among these it is found Hypophosphatemic rickects which is a genetic disease and may present with various disorders. A case of a 3 year old girl referred to the genetic consultation due to short size and deformity in both legs. After questioning and physical examination a radiologic and blood chemestry study was performed resulting in the diagnosis of this disease. It is considered valuable to make a timely diagnosis which favours the follow up and treatment in a multidispline team, allowing, in addition, to provide genetic advisory to relatives. These are the reasons for this case presentation.
ABSTRACT
El tenofovir (TDF) es un inhibidor de la transcriptasa reversa análogo de nucleótidos, aunque tiene buena tolerabilidad y alta actividad antirretroviral, su efecto sobre el riñón ha sido un motivo de preocupación. Objetivo: Describir el caso de una niña infectada por VIH que presenta síntomas y hallazgos de laboratorio compatibles con un síndrome de Fanconi durante el tratamiento con TDF como parte de su terapia antirretroviral. Caso clínico: Niña infectada por el VIH-1, que después de 18 meses con el tratamiento con TDF presentó pérdida de fuerza y dolor de las extremidades inferiores con deterioro funcional. Los hallazgos de laboratorio fueron compatibles con el síndrome de Fanconi. Las radiografías mostraron fractura bilateral de cadera y muñecas. El síndrome de Fanconi se recuperó por completo cuatro meses después del cambio de terapia antirretroviral. Conclusiones: Los médicos que prescriben TDF deben estar preparados para detectar signos y síntomas indicativos de disfunción renal y considerar de inmediato el cambio del fármaco a otro antirretroviral.
Tenofovir (TDF) is an inhibitor of reverse transcriptase nucleotide analogue, although it has good tolerability and high anti-retroviral activity, its effect on the kidney has been a concern. Objective: To describe a girl infected with HIV who presented Fanconi syndrome during antiretroviral therapy with TDF. Clinical case: We describe a HIV-1-infected girl, who after 18 months treatment with TDF presented loss of strength and pain of the lower extremities with functional impairment. Laboratory findings were consistent with Fanconi syndrome. Radiographs showed bilateral hip fracture and wrists. Full recovery of Fanconi syndrome was achieved four months after changing antiretroviral therapy. Conclusions: TDF-prescribing physicians must be prepared to detect signs and symptoms of renal dysfunction and immediately consider switching to another antiviral drug.
Subject(s)
Humans , Female , Child , Rickets/chemically induced , Anti-HIV Agents/adverse effects , Fanconi Syndrome/chemically induced , Tenofovir/adverse effects , HIV Infections/drug therapy , Anti-HIV Agents/administration & dosage , Fanconi Syndrome/diagnosis , Tenofovir/administration & dosageABSTRACT
El raquitismo hipofosfatémico resistente a la vitamina D está caracterizado por una hipofosfatemia persistente e hiperfosfaturia. Este disturbio metabólico causa una calcificación deficiente de las estructuras mineralizadas tales como en los huesos y dientes. Una de las alteraciones bucales más importantes de esta enfermedad es la recurrente formación de abscesos ''espontáneos'' afectando a múltiples dientes primarios, así como permanentes sin caries o trauma, relacionado con una mineralización deficiente de la dentina. Nosotros reportamos un caso de raquitismo hipofosfatémico resistente a la vitamina D en un paciente que reportó múltiples abscesos dentales y requirió tratamiento con pulpectomías, pulpotomías y coronas de acero cromo en molares y resinas en dientes anteriores. El objetivo del presente artículo es dar a conocer las características de este trastorno, el tratamiento y las consideraciones dentales.
Hypophosphatemic vitamin-D resistant rickets is characterized by persistent hypophosphatemia and hyperphosphaturia. This metabolic disorder causes deficient calcification of mineralized structures such as bones and teeth. One of the most important oral alterations elicited by this condition is the recurrent formation of ''spontaneous'' abscesses. These affect multiple caries or trauma to free primary o permanent teeth and are related to a deficient dentin mineralization. We report a case of hypophosphatemic vitamin-D resistant rickets in a patient who reported multiple dental abscesses and who required treatment consisting in pulpectomies, pulpotomies and chrome-steel crowns in molars and composite resin in anterior teeth. The aim of the present article was to raise awareness on the characteristics of this disorder, as well as its treatment and dental considerations.
ABSTRACT
Tumor-induced osteomalacia (TIO) is a rare paraneoplasic syndrome with overproduction of fibroblast growth factor 23 as a phosphaturic agent, leading to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of 1,25-dihydroxyvitamin D. Diagnosis of this disease is often challenging. The following case report described a middle-aged man with symptoms of bone pain and severe muscle weakness, who was found to have TIO. The tumor responsible for the symptoms was localized on his thigh and its resection resulted in normalization of blood chemistry and complaints. Subsequent microscopic examination revealed a phosphaturic mesenchymal tumor, mixed connective tissue type. The authors reinforce the importance of recognition of this disease, as severe disability and even death can be avoided with the surgical removal of the causative tumor.
Osteomalácia induzida por tumor (OIT) é uma síndrome paraneoplásica rara, causada por hiperprodução do agente fosfatúrico, levando a hipofosfatemia e hiperfosfatúria crônicas, associadas a níveis reduzidos ou inapropriadamente normais de 1,25-dihidroxivitamina D. O diagnóstico dessa doença é, geralmente, desafiador. O relato de caso aqui apresentado descreveu um homem de meia-idade, com quadro inicial de dor óssea, fraqueza muscular extrema e hipofosfatemia, com diagnóstico tardio de OIT. O tumor responsável pelos sintomas foi localizado em membro inferior, e sua exérese resultou em normalização das alterações bioquímicas e dos sintomas. O exame microscópico da lesão revelou tumor mesenquimal fosfatúrico, tecido conectivo misto. Os autores reforçam a importância do reconhecimento dessa entidade, uma vez que a remoção do tumor responsável pelos sintomas pode evitar sérias complicações ou mesmo a morte.
Subject(s)
Humans , Male , Middle Aged , Hypophosphatemia/complications , Mesenchymoma/complications , Osteomalacia/etiology , Soft Tissue Neoplasms/complications , Hypophosphatemia/diagnosis , Mesenchymoma/diagnosis , Mesenchymoma/surgery , Osteomalacia/diagnosis , Soft Tissue Neoplasms/diagnosis , Soft Tissue Neoplasms/surgeryABSTRACT
En este artículo presentamos un enfoque práctico para el diagnóstico diferencial de desórdenes hipofosfatémicos heredados junto a la osteomalacia inducida por tumor (una forma adquirida), profundizando sobre el raquitismo hipofosfatémico ligado al cromosoma X y hacemos la descripción de una familia con este diagnóstico.
In this article we present a practical focus for the differential diagnosis of hypophosphatemic disorders inherited join to the osteomalacia induced by tumor (an acquired form); deepening about the X-linked hypophosphatemic rickets and we present description of a family with this diagnosis.