Recurrent pneumonia in a patient with bone deformity: a case report of ricketts

Ricketts is a rare bone disease associated with low serum levels of calcium and phosphate. Most of the cases occur as a consequence of nutritional deficits, but genetic mutations or acquired metabolic defects may account for it. Clinical presentation is heterogenous depending on age at presentation,...

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Detalles Bibliográficos
Autores: Zapata-Chica, Carlos Andrés, Ramírez, Juan José, Rodríguez-Ballesteros, María Fernanda, Franco-Herrera, Daniela
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:Perú
Institución:Universidad Peruana Cayetano Heredia
Repositorio:Revistas - Universidad Peruana Cayetano Heredia
Idioma:español
OAI Identifier:oai:revistas.upch.edu.pe:article/3662
Acceso en línea:https://revistas.upch.edu.pe/index.php/RMH/article/view/3662
Access Level:acceso abierto
Palabra clave:Raquitismo, preescolar, vitamina D.
Rickets, child preschool, vitamin D.
Descripción
Sumario:Ricketts is a rare bone disease associated with low serum levels of calcium and phosphate. Most of the cases occur as a consequence of nutritional deficits, but genetic mutations or acquired metabolic defects may account for it. Clinical presentation is heterogenous depending on age at presentation, manifesting as widening and retardation of mineralization of the growing bone plate. We present the case of a 11 month of age child with a history of recurrent pneumonia presenting with generalized muscle hypotonia, deformed chest and bowed extremities with hypocalcemia and hypophosphatemia, elevated levels of alkaline phosphatase and parathyroid hormone, high levels of 25-hidroxy-vitamine D3 and very low levels of 1,25-dihidroxy-vitamine D3 suggesting the diagnosis of severe vitamin D type 1A rickets, a rare form of this disease.