Toddler’s kidney disease unmasks rare Gaucher symptom

Toddler’s kidney disease unmasks rare Gaucher symptom

A 15-month-old girl in Egypt was diagnosed with Gaucher disease after developing severe kidney problems that failed to respond to standard therapies, according to a case report describing what researchers termed a “unique presentation” of Gaucher. While enzyme replacement therapy (ERT) helped ease other Gaucher symptoms for the girl, it could not reverse the permanent kidney damage, underscoring the importance of early diagnosis and treatment, t…