Publications by authors named "Aisling Fitzsimons"

Background: Alport syndrome is a genetically heterogenous disorder resulting from variants in genes coding for alpha-3/4/5 chains of Collagen IV, which results in defective basement membranes in the kidney, cochlea and eye. The syndrome has different inheritance patterns and historically, was thought of as a disease affecting solely males.

Case: A 15-year-old female presented with pedal oedema, hypertension and proteinuria.

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Summary: Rare patients who have both thyroid-stimulating hormone (TSH) receptor-stimulating and -blocking antibodies can develop 'pendulum swinging' thyroid dysfunction. A 9-year-old girl with Down syndrome was treated with carbimazole for Graves' disease. After 2 years of treatment, she became profoundly biochemically hypothyroid, and this persisted after carbimazole was discontinued.

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