Renal Complications of Fabry Disease in Children

Overview

Journal Pediatr Nephrol

Specialties Nephrology
Pediatrics

Date 2012 Aug 18

PMID 22898981

Citations 23

Authors

Behzad Najafian

Michael Mauer

Robert J Hopkin

Einar Svarstad

Affiliations

Soon will be listed here.

Abstract

Fabry disease is an X-linked α-galactosidase A deficiency, resulting in accumulation of glycosphingolipids, especially globotriaosylceramide, in cells in different organs in the body. Renal failure is a serious complication of this disease. Fabry nephropathy lesions are present and progress in childhood while the disease commonly remains silent by routine clinical measures. Early and timely diagnosis of Fabry nephropathy is crucial since late initiation of enzyme replacement therapy may not halt progressive renal dysfunction. This may be challenging due to difficulties in diagnosis of Fabry disease in children and absence of a sensitive non-invasive biomarker of early Fabry nephropathy. Accurate measurement of glomerular filtration rate and regular assessment for proteinuria and microalbuminuria are useful, though not sensitive enough to detect early lesions in the kidney. Recent studies support the value of renal biopsy in providing histological information relevant to kidney function and prognosis, and renal biopsy could potentially be used to guide treatment decisions in young Fabry patients. This review aims to provide an update of the current understanding, challenges, and needs to better approach renal complications of Fabry disease in children.

Citing Articles

Reduction in kidney function decline and risk of severe clinical events in agalsidase beta-treated Fabry disease patients: a matched analysis from the Fabry Registry.

Batista J, Hariri A, Maski M, Richards S, Gudivada B, Raynor L Clin Kidney J. 2024; 17(8):sfae194.

PMID: 39139182 PMC: 11320591. DOI: 10.1093/ckj/sfae194.

Diet and Physical Activity in Fabry Disease: A Narrative Review.

Muscogiuri G, De Marco O, Di Lorenzo T, Amicone M, Capuano I, Riccio E Nutrients. 2024; 16(7).

PMID: 38613094 PMC: 11013480. DOI: 10.3390/nu16071061.

Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease.

Ucar T, Cansever M, Isat E, Zubarioglu T, Aktuglu Zeybek A, Topcu B Balkan Med J. 2024; 41(2):113-120.

PMID: 38247273 PMC: 10913122. DOI: 10.4274/balkanmedj.galenos.2024.2023-10-98.

Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases.

Smerkous D, Mauer M, Tondel C, Svarstad E, Gubler M, Nelson R Kidney Int. 2023; 105(1):165-176.

PMID: 37774924 PMC: 10842003. DOI: 10.1016/j.kint.2023.09.011.

Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease.

Avarappattu J, Gaspert A, Sparta G, Rohrbach M Pediatr Nephrol. 2023; 39(1):131-140.

PMID: 37470867 PMC: 10673963. DOI: 10.1007/s00467-023-06050-5.

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