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Pahl Madeleine V.; Hou Jean: Fabry Disease Presenting as End-Stage Kidney Disease. Glomerular Diseases DOI 10.1159/000533502

Because of non-specific symptomatology, Fabry’s disease may elude diagnosis during progression of chronic kidney disease (CKD). Many cases may present with end-stage kidney disease (ESKD) of unknown cause. Using a case report as a demonstration of this conundrum, Pahl and Hou discuss strategies for identifying Fabry’s disease as CKD on a timely basis that might add to the prospect of preventing ESKD by early diagnosis and therapy with enzyme replacement.

Neuropathic pain, heat and cold intolerance, hypohidrosis, and episodes of diarrhea or constipation can be clues to the presence of this X-linked deficiency of alpha-galactosidase. Corneal opacities, hearing loss, and angio-keratomas on buttocks, hips, and/or peri-umbilical areas can be very helpful in suspecting the diagnosis. Premature cerebrovascular disease with strokes or transient ischemic attacks can be seen in about 25% of patients with this disease. Cardiac involvement (left ventricular hypertrophy, aortic or mitral valve disease, and arrhythmias) is common. Kidney involvement is seen in 50% of male hemizygous patients, and less in heterozygous female patients, manifesting as proteinuria and progressive loss of glomerular filtration rate. Frank nephrotic syndrome with hypo-albuminemia is infrequently observed. Use of NSAIDs for pain can exacerbate CKD. Genetic testing is diagnostic. Measurement of serum alpha-galactosidase levels is diagnostically useful in males but not females. Early diagnosis with initiation of enzyme replacement can lead to much symptomatic improvement and better outcomes.

Quoted Karger Article

Fabry Disease Presenting as End-Stage Kidney Disease

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