2 documents found, page 1 of 1
Influenza B-Associated Atypical Hemolytic Uremic Syndrome
Mano,Lia; Francisco,Telma; Gaspar,Joana; Pereira,Gabriela; Santos,Raquel; Abranches,MargaridaABSTRACT Hemolytic uremic syndrome (HUS) triggered by influenza virus (iHUS) is rare. Influenza A infections have been described to trigger atypical HUS (aHUS) in individuals with an underlying genetic complement dysregulation. To date there are only few reports of Influenza B as a trigger of aHUS, all identified cases associated with mutations in the MCP or C3 gene, occasionally combined with other mutations. ...
X-linked hypophosphatemic rickets: a new mutation
Maio,Patrícia; Mano,Lia; Rocha,Sara; Baptista,Rute Baeta; Francisco,Telma; Sousa,Helena; Freixo,João Parente; Abranches,MargaridaAbstract Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinical case of a 4-year-old girl with unremarkable family history, who presented with failure to thrive and bowing of the legs. Laboratory tests showed hypopho...