Related Experiment Video
Updated: Jan 5, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.5K
Renal involvement in paediatric Fabry disease
S Sestito1, F Falvo1, A Sallemi2
1Department of Medical and Surgical Sciences, Pediatric Unit, "Magna Graecia" University, Catanzaro, Italy.
Journal of Biological Regulators and Homeostatic Agents
|October 22, 2019
Summary
Anderson-Fabry Disease (AFD) involves glycosphingolipid buildup due to alpha-galactosidase A deficiency. Early enzyme replacement therapy (ERT) is key for preventing kidney damage in children, though optimal timing remains debated.
Area of Science:
- Biochemistry
- Genetics
- Nephrology
Background:
- Anderson-Fabry Disease (AFD) is a rare, X-linked disorder of glycosphingolipid metabolism.
- Deficiency in alpha-galactosidase A leads to globotriaosylceramide (Gb3) accumulation in lysosomes.
- Renal failure is a major complication, with Gb3 accumulation occurring years before symptoms.
Purpose of the Study:
- To review the role of renal biopsy in diagnosing early nephropathy in pediatric AFD.
- To discuss the effectiveness of enzyme replacement therapy (ERT) in managing pediatric AFD.
- To address the optimal timing for initiating ERT in children with AFD.
Main Methods:
- Literature review on AFD, renal involvement, and ERT in pediatric patients.
- Analysis of evidence regarding renal biopsy utility and ERT efficacy.
- Discussion of current management strategies and open questions.
Main Results:
- Gb3 accumulation begins early in life, preceding clinical renal signs like microalbuminuria and proteinuria.
- Renal biopsy can detect early, potentially reversible nephropathy and assess ERT effectiveness.
- While early ERT is recommended, the precise initiation timing in pediatric AFD is still under discussion.
Conclusions:
- Early diagnosis and intervention are crucial for managing AFD-related nephropathy.
- Renal biopsy is a valuable tool for assessing disease stage and treatment response in children.
- Further research is needed to establish optimal ERT initiation protocols for pediatric AFD.
More Related Videos
Related Concept Videos
01:22Lysosomal Hydrolases
4.4K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.4K
01:23Cystic Fibrosis: Pathogenesis
674
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
674
01:24Cystic Fibrosis: Management
426
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
Sinus disease and chronic...
426
01:24Chronic Kidney Disease II: Clinical Manifestations
514
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
514
01:20Inborn Errors of Metabolism
673
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
673
01:30Acute Kidney Injury IV: Diagnostic Studies and Prevention
236
Accurate diagnosis and effective prevention are critical in managing Acute Kidney Injury (AKI), which is linked to high mortality rates ranging from 10% to 80%. Timely recognition of at-risk patients and careful monitoring can significantly reduce the likelihood of kidney damage.Diagnostic Assessments:The diagnostic process starts with a comprehensive medical history to identify prerenal, intrarenal, and postrenal causes.Prerenal causes, such as dehydration, hypotension, or blood loss, should...
236