Diagnostic difficulties in chronic kidney disease – Is it or is it not Fabry disease?

Abstract

Introduction. Renal impairment and neurological symptoms are common manifestations of Fabry disease. Although rare, Fabry disease should be taken into consideration when consulting a patient who presents with neurological and renal impairment, acroparesthesia and fatigue. The aim of this paper is to discuss the case of a female patient presenting with mild systemic symptoms and consequent renal impairment. Case report. The female patient, aged 64, presented for a painful ankle swelling, acroparesthesias, nycturia and fatigue. We diagnosed a gout attack, but found that she had biological signs of renal impairment, aggravated by the use of non-steroidian anti-inflammatory drugs. The search for an etiology of her renal failure proved difficult because she refused the kidney biopsy. The positivity of pANCA antibodies added another potential cause of kidney disease. The mild deficiency of alphagalactosidase could not fully support the diagnosis of Fabry disease. Discussions and conclusions. In women, Fabry disease should be suspected even if the symptomatology is not typical and as severe as in men. It is difficult to diagnose the Fabry disease in a female patient with chronic kidney disease, because of its polymorphic manifestations and association with other comorbidities, in our case, pANCA vasculitis.