Rare Diseases

Current bibliography for experts

"Renal Disease" search results...

FABRY

Identification of c.146G > A mutation in a Fabry patient and its correction by customized Cas9 base editors in vitro

2025-01-22

This study identifies a significant mutation (c.146G>A) in exon 1 of the GLA gene in a female Fabry disease patient. Bioinformatic predictions and biochemical analyses revealed that this variant significantly reduced the stability and activity of α-galactosidase A, confirming its pathogenicity. Using an adenine base-editing technique, the mutation was corrected in vitro. The study not only identified a novel variant but also demonstrated the potential of the CRISPR/Cas9 system.

FABRY

Biomarkers for Monitoring Renal Damage Due to Fabry Disease in Patients Treated with Migalastat: A Review for Nephrologists

2022-09-28

It is aimed to review which biomarkers are useful for nephropathy follow-up among Fabry "amenable" patients receiving migalastat.

FABRY

The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients

2022-09-01

This is the first study to have described family screening in a large Russian cohort of patients with FD and chronic kidney disease.

FABRY

Late-onset Fabry disease: The cardiac sequela

2022-06-09

This is the first detailed description of a late-onset phenotype of Fabry disease (FD) with c.146 G>C GLA variant. In addition, this case serves as a potent reminder to pay meticulous attention to 'red flags' accompanying left ventricular hypertrophy (LVH)

FABRY

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

2021-04-09

In this review, the problems faced in the family genetic screening of patients affected with rare genetic diseases are highlighted by an international group of experts of Fabry disease. These problems include related costs, low awareness of its importance, cultural and societal issues, educational levels of the population, national geography and infrastructure, and a lack of medical geneticists.

FABRY

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease

2019-02-06

This article is a systematic review that includes 166 publications about enzyme replacement therapy (ERT) in the treatment of Fabry disease. When treatment is initiated early, better outcomes may be observed. There is a dose effect, according to the evidence. When data described in male patients, together with female and paediatric data, are evaluated, these inform clinical practice and therapeutic goals for individualized treatment.

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