Fabry disease — ESENeph MCQ

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HardInherited and Rare Renal DiseaseFabry diseaseESENeph

A 29-year-old man has burning pain in his hands and feet, angiokeratomas, reduced sweating, proteinuria and a maternal uncle who developed kidney failure. Which diagnosis best fits?

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Correct answer: D — Fabry disease from alpha-galactosidase A deficiency

The best answer is “Fabry disease from alpha-galactosidase A deficiency”. The combination of acroparesthesia, angiokeratomas, hypohidrosis and proteinuric kidney disease is classic Fabry disease. The maternal-line family history is compatible with its X-linked inheritance. “Alport syndrome” is less appropriate because Alport syndrome is characterised by haematuria with hearing or ocular features rather than angiokeratomas and acroparesthesia “ADTKD-UMOD” is less appropriate because ADTKD-UMOD causes bland urine and early gout, not the skin and neuropathic phenotype “Tuberous sclerosis complex” is less appropriate because tuberous sclerosis has a different skin, neurological and renal-tumour phenotype “Cystinuria” is less appropriate because cystinuria causes recurrent stones rather than systemic neuropathic and vascular manifestations

Reference: GeneReviews: Fabry disease: https://www.ncbi.nlm.nih.gov/books/NBK1292/