FLAVIA MASCARENHAS DAMIANI
Projetos de Pesquisa
Unidades Organizacionais
FMUSP, Hospital das Clínicas, Faculdade de Medicina
LIM/18 - Laboratório de Carboidratos e Radioimunoensaios, Hospital das Clínicas, Faculdade de Medicina
LIM/18 - Laboratório de Carboidratos e Radioimunoensaios, Hospital das Clínicas, Faculdade de Medicina
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- Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations(2015) DAMIANI, F. M.; MARTIN, R. M.; LATRONICO, A. C.; FERRAZ-DE-SOUZA, B.A Summary Adding to the debate around vitamin D's effects on skeletal health, we report the long-term follow-up of two patients with severe vitamin D receptor mutations, who had normal bone mass acquisition and normalization of calcemia around puberty, suggesting that vitamin D might not be essential for skeletal health in adulthood. Introduction Vitamin D plays a pivotal role in calcium homeostasis, and the consequences of vitamin D insufficiency for skeletal health, as well as the importance of its supplementation, are a matter of great interest. Individuals bearing homozygous vitamin D receptor (VDR) defects present with severe hypocalcemic rickets in early infancy due to vitamin D resistance. Methods Here, we report the follow-up of two patients with hereditary vitamin D-resistant rickets (HVDRR), focusing on bone mass acquisition and evolution of calcemia. Results Patient 1 is a 30-year-old male bearing a homozygous p.Arg30* nonsense mutation in the VDR DNA-binding domain, who presented at 6 months. From 9 years of age, treatment requirement decreased progressively. Follow-up with DXA showed normal bone mass acquisition. In adulthood, he maintains normocalcemia without calcium supplementation and has no signs of bone fragility. Patient 2 is a 37-year-old female with milder HVDRR and alopecia due to a homozygous p.Gly319Val mutation in the VDR ligand-binding domain. Around puberty, hypercalciuria and kidney stones were detected, resulting in suspension of treatment. Follow-up with DXA revealed normal bone mass, and she maintained normocalcemia without supplementation during gestation and lactation. Conclusions The long-term follow-up of HVDRR provides insights into the role of vitamin D in human calcium homeostasis and bone health. The normalization of calcemia and normal bone mass acquisition despite a permanently dysfunctional VDR suggest that vitamin D might not be essential for skeletal health in adulthood. Extrapolation of these findings may have implications in broader clinical settings, especially considering widespread vitamin D supplementation.
bookPart Dor crônica não articular dos membros inferiores(2017) NORDON, David Gonçalves; DAMIANI, Flavia Mascarenhas; SANTOS, Gustavo de Brito Venâncio dosconferenceObject Mutation in the Ligand-Binding Domain of the Vitamin D Receptor (VDR) in a Patient with Spontaneous Recovery of Hereditary Vitamin D-Resistant Rickets (HVDRR)(2013) DAMIANI, Flavia M.; MARTIN, Regina M.; LATRONICO, Ana Claudia; CORREA, Pedro Henrique; FERRAZ-DE-SOUZA, Bruno