Simultaneous multicystic kidney and Anderson-Fabry disease: 2 separate entities or same side of the coin.

Abstract

We present the case of a 54-year-old man with multicystic kidney and concomitant Anderson-Fabry disease. He was referred to our hospital with multiple renal and hepatic cysts, without apparent family history of autosomal dominant polycystic kidney disease. His clinical history suggested Anderson-Fabry disease, so an extensive work-up for Anderson-Fabry disease was subsequently undertaken. The alpha-galactosidase activity in his serum was low, and a final diagnosis of Anderson-Fabry disease with concomitant multicystic kidney was confirmed by genetic analysis.

• Authors: Antonio Pisani, Eleonora Riccio, Bruno Cianciaruso, Massimo Imbriaco
• Journal: Journal of nephrology (J Nephrol) 2011 Nov-Dec Vol. 24 Issue 6 Pg. 806-8 ISSN: 1724-6059 [Electronic] Italy
• PMID: 22058028 (Publication Type: Case Reports, Journal Article)

Chemical References

• alpha-Galactosidase

Topics

• Comorbidity
• Fabry Disease (diagnosis, epidemiology, genetics)
• Humans
• Kidney (pathology)
• Magnetic Resonance Imaging
• Male
• Middle Aged
• Multicystic Dysplastic Kidney (diagnosis, epidemiology, genetics)
• Mutation (genetics)
• Myocardium (pathology)
• alpha-Galactosidase (blood, genetics)