Renal involvement in Fabry disease

Abensur, Hugo; Reis, Marlene Antônia dos

doi:10.5935/0101-2800.20160034

Cited by 17 publications

(16 citation statements)

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“…Renal impairment begins with microalbuminuria and proteinuria in the third decade of life with gradual development of azotemia, and ESRD by fourth to fifthdecade. [3] Interestingly our index child presented with ESRD as the initial presentation. Most of the cases that has been described from the country had presented with non-renal manifestations.…”

Section: Discussionmentioning

confidence: 98%

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Burning feet, dilated heart and failed kidneys

Abraham²,

Nadig

et al. 2019

Indian J Nephrol

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Section: Discussionmentioning

confidence: 98%

“…Fabry disease accounts for about 0.2-1.2% of patients with ESRD on hemodialysis, 4.9% of men and 2.4% of women with cryptogenic stroke and 6.3% of late onset hypertrophic cardiomyopathy. [345]…”

Section: Discussionmentioning

confidence: 99%

Burning feet, dilated heart and failed kidneys

Abraham²,

Nadig

et al. 2019

Indian J Nephrol

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“…The main manifestations are pathological albuminuria and decreased GFR, although tubular dysfunction may also occur [29]. Moreover, podocyturia, a biomarker suggestive of early kidney involvement, is elevated in FD patients [30,31].…”

Section: Discussionmentioning

confidence: 99%

A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women

Veloso¹,

Ataides²,

Canziani³

et al. 2017

Nephron

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Background/Aims: Fabry disease (FD), an X-linked lysosomal storage disorder, leads to accumulation of globotriaosylceramide. Screening in dialysis patients may identify genetic variants of unknown clinical significance. We aimed to characterize the pathogenicity of a novel GLA gene mutation identified during hemodialysis screening and the histologic findings of early Fabry nephropathy. Methods: One out of 108 male hemodialysis patients screened for FD presented low α-galactosidase A activity. A novel missense mutation (p.G35V) in the GLA gene was detected. Family screening identified 11 additional cases (8 women). Clinical investigation was conducted in 10 patients (index case and 9 relatives). Pathogenicity of the new mutation was investigated by clinical and laboratory tests, cardiac and cranial magnetic resonance imaging, and kidney biopsy. Results: Cardiac manifestations were detected in most patient from both genders, such as left ventricular hypertrophy and short PR interval. White matter lesion was present in 3 women. Pulvinar lesion of the thalamus and ischemic stroke were detected in male patients. Abnormal glomerular filtration rate (GFR) and/or albuminuria were present in 5 patients (3 women). Renal biopsies (n = 7) revealed globotriaosylceramide deposits in different cell types and foot processes effacement in all patients, including women with normal albuminuria. Despite a normal GFR, tubulointerstitial fibrosis ranging from 5 to 20% was present in young women and men with normal or high albuminuria, respectively. Conclusion: The novel missense mutation p.G35V leads to severe systemic manifestations of FD in men and women. Kidney histological changes, including tubulointerstitial fibrosis, may predate albuminuria and GFR changes in adult women. Novel non-invasive markers are required for early detection of Fabry nephropathy.

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“…Other renal manifestations comprise defect of urinary concentration (isosthenuria), distal renal tubular acidosis and parapyelic cysts. The progression to ESRD requiring RRT occurs around the 4th to 5th decades of life 59,60 . Other clinical manifestations observed in Fabry disease patients are hearing loss, cold intolerance, intolerance to physical activity, and obstructive pulmonary disease.…”

Section: Fabry Diseasementioning

confidence: 99%

“…Other clinical manifestations observed in Fabry disease patients are hearing loss, cold intolerance, intolerance to physical activity, and obstructive pulmonary disease. In the late-onset phenotypes one sole organ, the heart or the kidneys, is affected whereas the classic symptoms are usually absent or appear later in life 60 - 62 .…”

Section: Introductionmentioning

confidence: 99%

Rare inherited kidney diseases: an evolving field in Nephrology

et al. 2020

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There are more than 150 different rare genetic kidney diseases. They can be classified according to diagnostic findings as (i) disorders of growth and structure, (ii) glomerular diseases, (iii) tubular, and (iv) metabolic diseases. In recent years, there has been a shift of paradigm in this field. Molecular testing has become more accessible, our understanding of the underlying pathophysiologic mechanisms of these diseases has evolved, and new therapeutic strategies have become more available. Therefore, the role of nephrologists has progressively shifted from a mere spectator to an active player, part of a multidisciplinary team in the diagnosis and treatment of these disorders. This article provides an overview of the recent advances in rare hereditary kidney disorders by discussing the genetic aspects, clinical manifestations, diagnostic, and therapeutic approaches of some of these disorders, named familial focal and segmental glomerulosclerosis, tuberous sclerosis complex, Fabry nephropathy, and MYH-9 related disorder.

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Renal involvement in Fabry disease

Cited by 17 publications

References 0 publications

Burning feet, dilated heart and failed kidneys

Burning feet, dilated heart and failed kidneys

A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women

Rare inherited kidney diseases: an evolving field in Nephrology

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