Quero HA, Gómez MKL, Quero EA, Reyes GU, Reyes HKL, Pérez OFP, Hernández LKA, López CG, Pacheco BCF, López DA, Rodríguez-García J, Cuevas LLL

Language: Spanish
References: 15
Page: 40-46
PDF size: 419.98 Kb.

ABSTRACT

Rickets is a disorder in the levels of calcium and phosphatethat affects the proliferation, differentiation and maturity of chondrocytes and demineralize the skeletal structure. Since 1937, cases of congenital rickets have been described. The objective of this work is to present a case of congenital rickets. The clinical case is a 11 moth-old male, who at 4 months of life had progressive respiratory distress, pathological fractures of long bones, and demineralization, with a documented decrease of serum levels of 1.25 dihydroxyvitamin D3, an increase in parathormone and two mutations of the CYP27B1 gene and Sars-CoV 2 pneumonia. The treatment consisted of suplemental oxygen, mechanical ventilation, calcitriol, calcium, phosphate and magnesium supplements. He died of pneumonia caused by Candida tropicalis. Since the first recorded case of congenital rickets as an autosomal recessive disorder considered rare, currently the frequency within cases of rickets is 13% and there is a variability of disorders, some linked to the X chromosome; autosomal dominant, due to deficiency in the metabolic pathway or the absence calcitriol receptors in target cells, among others. The skeletal involvement at a very early age was decisive in considering the posible genetic cause of rickets. Confirmed with biochemical and genetic analysis.

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