Nefropatía por enfermedad de Fabry. Rol del nefrólogo y variables clínicas asociadas al diagnóstico

Fabry disease (FD) (Anderson-Fabry disease, OMIM 301500) is a genetic disorder caused by a pathogenic variant in the GLA gene on chromosome Xq22 that produces a deficiency in the lysosomal enzyme alpha-galactosidase A. It is transmitted as an X-linked trait, although de novo mutations have been described. The objective of this report is to describe the clinical characteristics of a patient with FD who is a carrier of a mutation not previously studied, in order to provide information on the genotype-phenotype correlation in this pathology. 38-year-old patient who consulted Neurology for positional vertigo. He also reported acroparesthesia, anhidrosis, heat intolerance and episodes of abdominal pain, with postprandial discomfort from 10 years of age. Physical examination showed horizonto-rotatory nystagmus in both looks, the rest of the neurological evaluation did not present abnormalities. The presence of umbilical and thighs angiokeratomas was identified. Determination of Alpha-Galactosidase in blood was requested: 0.34 μmol/l/h (2.10–10.51 μmol/l/h). Genetic analysis detected a deletion of a guanine at position 448, in exon 3 of the GLA gene (c.448delG). This mutation was considered to be pathogenic, confirming the diagnosis of FD, although it is not described in the data bases. Genetic counseling and a family pedifree study were performed without finding relatives with this variant of the GLA gene or a family history of FD, which suggests a de novo mutation.

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New mutation in Fabry disease: c.448delG, first phenotypic description

Calabrese

Botta

Rozenfeld

2021

Molecular Genetics and Metabolism Reports

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Genetic tests in children with steroid-resistant nephrotic syndrome

Cheong

2020

Kidney Res Clin Pract

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The majority of pediatric patients with idiopathic nephrotic syndrome respond well to steroids. However, 10% to 20% of affected children have steroid-resistant nephrotic syndrome (SRNS) [1]. Most SRNS cases are accompanied by focal segmental glomerulosclerosis (FSGS) and progress to end-stage renal disease (ESRD). To date, more than 50 monogenic causes of SRNS/FSGS have been identified, and novel causative genes are continually being discovered [2]. Traditional Sanger sequencing, the classic chain-termination method of DNA sequencing, is the 'gold standard' , providing high specificity and sensitivity in the genetic

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Management of Hypertension in Fabry Disease

Kim¹,

Choi

2023

Electrolyte Blood Press

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Fabry disease (FD), a rare X-linked lysosomal storage disorder that depletes alpha-galactosidase A (α-GalA), is caused by mutations in the GLA gene. Diminished α-GalA enzyme activity results in the accumulation of Gb3 and lyso-Gb3. The pathophysiology of hypertension in FD is complex and unclear. The storage of Gb3 in arterial endothelial cells and smooth muscle cells is known to produce vascular injury by increasing oxidative stress and inflammatory cytokines as a primary pathophysiological mechanism. In addition, Fabry nephropathy developed, resulting in a decrease in kidney function and contributing to hypertension. The prevalence of hypertension in patients with FD was between 28.4% and 56%, whereas hypertension in patients with chronic kidney disease ranged between 33% and 79%. A study using 24-hour ambulatory blood pressure monitoring (ABPM) to measure blood pressure (BP) indicated a high prevalence of uncontrolled hypertension in FD. Thus, 24-hour ABPM ought to be considered for FD hypertension assessments. Appropriate treatment of hypertension is believed to reduce mortality in patients with FD caused by kidney disease, cardiovascular disease, and cerebrovascular disease because hypertension significantly impacts organ damage. Up to 70% of FD patients have been reported to have kidney involvement, and angiotensin-converting enzyme inhibitors and angiotensin receptor blockers prescribed for proteinuria are recommended as first-line therapy with antihypertensive drugs. In conclusion, hypertension should be controlled appropriately, given the different morbidity and mortality caused by significant organ involvement in FD patients.

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Nefropatía por enfermedad de Fabry. Rol del nefrólogo y variables clínicas asociadas al diagnóstico

Cited by 3 publications

References 39 publications

New mutation in Fabry disease: c.448delG, first phenotypic description

New mutation in Fabry disease: c.448delG, first phenotypic description

Genetic tests in children with steroid-resistant nephrotic syndrome

Management of Hypertension in Fabry Disease

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