1 - Serviço de Pediatria, Centro Hospitalar Barreiro-Montijo, Barreiro, Portugal.
2 - Departamento de Pediatria, Centro Hospitalar Universitário Cova da Beira, Covilhã, Portugal.
3 - Unidade de Nefrologia Pediátrica, Área de Pediatria, Centro Hospitalar e Universitário de Lisboa Central, Lisboa, Portugal.
- J Bras Nefrol. 2023 Jul-Sep;45(3):378-379. doi: 10.1590/2175-8239-JBN-2023-0044en.
Resumo: This is a case report of a seven-year-old girl evacuated from Sao Tome and Principe due to rickets. She started walking at age 3, was unable to walk since age 4, and had recurrent episodes of respiratory distress1. At physical examination, she was malnourished, had bell-shaped thorax, deformed and varus limbs, and missing teeth. Blood tests revealed severe hypocalcemia (6.4 mg/dL) and hypophosphatemia (2.5 mg/dL), high alkaline phosphatase (4161 U/L) and parathyroid hormone (509.6 pg/ml), normal range 25-hydroxyvitamin D; 1,25-dihydroxyvitamin D was not performed. Genetic study identified mutations in both CYP27B12 gene copies, leading to alterations in alpha-1-hydroxylase function. A diagnosis of vitamin- D-dependent rickets type 1A was made.
Palavras Chave: hypocalcemia, hypophosphatemia, rickets, vitamin D-dependent rickets type 1A.