Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy.

Mohamed S Abdel-HamidRasha M ElhossiniGhada A OtaifySherif F Abdel-GhafarMona S Aglan

Published in: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA (2022)

Our study described the phenotypic and genetic features of four patients with OPPG and identified two new LRP5 variants, thus expanding the mutational spectrum of OPPG. In addition, our study reinforces the efficiency of using intravenous bisphosphonates in the management of patients with OPPG.

Keyphrases

end stage renal disease
chronic kidney disease
newly diagnosed
ejection fraction
copy number
prognostic factors
gene expression
low dose
mesenchymal stem cells
patient reported outcomes
bone marrow
case report
patient reported
replacement therapy