Raquitismo dependiente de la vitamina d o tipo i, caso clínico de un paciente pediátrico

Abstract

Vitamin D - dependent type I Rickets, is due to a mutation in the CYP27B1 gene at C12q14 that encodes the renal production of 1 α-hydroxylase, which converts calcidiol 25(OH)D to calcitriol 1-25(OH)2D in the kidney, this accompanied with high levels of 25(OH)D and the absence of 1-25(OH)2D. Inheritance is autosomal recessive and the gene is located on chromosome 12. It is difficult to detect this disease in the first months of life since it is generally asymptomatic and develops in infants. In the present research work, a treatment was established through the review of clinical and therapeutic guides, applying an investigative and explorative methodology, for which different scientific platforms were investigated, which allowed us to solve the clinical case of a 23-month-old pediatric patient, We analyzed the parameters of biochemical tests such as PTH, FA, 25(OH) and 1-25(OH)2D, as well as the physical examination of the patient's bone deformations in order to establish a treatment with the help of a medication plan, which details the name of the medication, its function, dose, dosage, dosage and how often it should be administered. A food plan rich in calcium, phosphorus and zinc was designed, all together in order to contribute to the patient's improvement.