Recenzija, Prikaz slučaja

Kidneys in Anderson-Fabry Disease

Petar Kes
Nikolina Bašić-Jukić

Sažetak

Anderson-Fabry disease is an X-linked recessive glycolipid storage disease caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Numerous mutations are responsible for development of the disease. Clinical manifestations include acroparesthesia from childhood, corneal dystrophy, angiokeratomas, hypohidrosis, hearing loss and, with aging, development of cardiovascular and renal disease. Renal failure typically begins in the third decade of life. A young male patient presents with proteinuria and impaired urinary concentrating ability, or reaches end-stage renal disease of unknown origin without prior supervision of nephrologist. Polyuria and nicturia are the first signs of disease caused by urinary concentration defect. Proteinuria begins in the second decade of life, and is usually below the nephrotic level. Urinalysis is characterized by hematuria and lipiduria. Urinary sediment contains lipid globules and characteristic .Maltese crosses.. Enzyme replacement therapy has recently become available. Two formulations of alpha-galactosidase A have received marketing authorization. It seems possible to halt and probably even reverse the progression of Fabry disease before the irreversible organ damage has set in. Clinical trials have proved the efficacy and safety of treatment with agalsidase alpha or beta. Besides its beneficial effect on renal function, enzyme replacement therapy improves cardiac parameters and quality of life in patients with Anderson-Fabry disease. The main disadvantage of enzyme replacement therapy is the very high cost of treatment, posing a challenge even to the most industrialized countries in the world.

Ključne riječi

Fabri disease - complications; Fabri disease - genetics; Kidney disease - therapy; Kidney disease - diagnosis

Hrčak ID:

14245

URI

https://hrcak.srce.hr/14245

Datum izdavanja:

3.3.2005.

Podaci na drugim jezicima: hrvatski

Posjeta: 1.760 *