A child with cutaneous-skeletal hypophosphatemia syndrome caused by a mosaic HRAS mutation – outcome of treatment with anti-FGF23 antibody
Feihong LUO,
Ming Li,
Jing Wu
et al.
Abstract:Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare inherited disorder that causes bone abnormalities due to hypophosphatemic rickets, which is a significant health comorbidity. Conventional therapy involving multiple daily oral doses of phosphate and calcitriol for CSHS rickets has limited effectiveness. We present the clinical features and therapeutic outcomes of the first Chinese child with bone fractures, a seizure history, and novel recurrent gastrointestinal manifestations of CSHS, including di… Show more
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