Unusual renal presentation of Fabry disease in a female patient

Abaterusso, Cataldo; Biase, Vincenzo De; Salviati, Alessandro; Fabris, Antonia; Millardi, Deborah; Tomei, Paola; Bernich, Patrizia; Lupo, Antonio; Gambaro, Giovanni

doi:10.1038/nrneph.2009.71

Cited by 7 publications

(6 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Male patients with classic phenotype usually have a-galactosidase A activity <5% of normal, which is diagnostic, but in those with attenuated phenotype, the residual enzymatic activity could be considerable, requiring GLA gene sequencing for definitive diagnosis. 7 Likewise, female patients (heterozygotes) can have significant levels of enzyme activity and, for that, it's a mandatory GLA gene sequencing to screen mutations in women. 2 GLA gene mutations include missense and nonsense mutations, small deletions or insertions, and large gene rearrangements.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…4 Even in the same family, clinical manifestations are heterogeneous and can vary widely from no symptoms to the classical clinical picture, with intermediate states affecting one or more organs. 2,[5][6][7] Residual activity of a-galactosidase A enzyme, together with genetic, epigenetic, and environmental factors, seems to affect the phenotype. Although some genotype-phenotype correlations are known, for example, null mutations in males associated with classic phenotype, in general, the genotype-phenotype correlation is poor in FD.…”

Section: Introductionmentioning

confidence: 99%

“…Female patients can be as severely affected as males, although more frequently later in life and with an insidious course of the disease, which could be related to X-chromosome inactivation. 2,7,8,13,14 In adulthood, cardiac, renal, and cerebrovascular manifestations are prominent. 14 Some patients present attenuated phenotypes characterized by later onset and predominant commitment of one organ (cardiac, renal, and cerebrovascular-attenuated phenotypes).…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Anderson-Fabry Disease

Beirão

Cabrita

Torres

et al. 2016

Journal of Inborn Errors of Metabolism and Screening

View full text Add to dashboard Cite

Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in the lysosomes of several cells types in the organism, mainly the endothelial, nervous system, cardiac, and renal cells. Its heterogeneous and nonspecific presentation, similar to other common pathologies, delays the diagnosis and leads to incorrect therapy. In the presence of attenuated phenotypes with predominant involvement of an organ, it is even harder to identify patients with AFD. It is highly important to be aware of this diagnosis, since enzyme replacement therapy is currently available. This review aims to approach the clinical manifestations of AFD and the phenotypes related to the differential diagnosis for each manifestation and the frequency of follow-up recommended.

show abstract

Section: Clinical Manifestationsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Anderson-Fabry Disease

Beirão

Cabrita

Torres

et al. 2016

Journal of Inborn Errors of Metabolism and Screening

View full text Add to dashboard Cite

show abstract

“…Fabry disease (FD) is a multisystem lysosomal storage disorder caused by a mutation in the alpha-galactosidase (α-Gal A) gene located on the X chromosome [ 1 ]. This results in the accumulation of globotriaosylceramide (GL-3) within lysosomes in a wide variety of cells, including endothelial, renal, cardiac, and corneal cells [ 2 ]. The global incidence of FD is currently estimated to range from 1/22,000 to 1/3000, however, it may be significantly underestimated due to the diverse range of clinical phenotypes [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Case report: enzyme replacement therapy for Fabry disease presenting with proteinuria and ventricular septal thickening

Chen,

Yin,

Jiao

et al. 2024

BMC Nephrol

View full text Add to dashboard Cite

Fabry disease (FD) is an uncommon, X-linked, lysosomal storage disease that causes defects in the glycosphingolipid metabolic pathway due to deficient or absent lysosomal α-galactosidase (α-Gal A) activity. This leads to the accumulation of globotriaosylceramide (GL-3) within lysosomes in a wide range of cells, including endothelial, cardiac, renal, and corneal cells, and consequently, the progressive appearance of clinical symptoms in target organs. Enzyme replacement therapy (ERT), which involves the exogenous supplementation of α-Gal A enzyme and has been successfully administered for treating FD.Here, we report a case of a 37-year-old male with complaints of recurrent proteinuria and ventricular septal thickening. A renal biopsy revealed vacuolization and foamy changes in podocytes, and the presence of myelin-like bodies and zebra bodies. The white blood cell α-Gal A activity was very low, while the Lyso-GL-3 level was high. Additionally, genetic analysis revealed a gene variant c.902G > A p. Arg301Gln. The patient was diagnosed with FD, and subsequently received intravenous ERT with a dose of Agalsidase α (0.2 mg/kg, 17.5 mg every 2 weeks). Currently, the values of proteinuria and ventricular septum thickness remain stable during the 6-month follow-up. Initiating ERT at an early age can effectively decrease the deposition of GL-3, attenuate the progressive clinical manifestations of FD, and provide greater long-term benefits.

show abstract

Early onset systemic lupus erythematosus: differential diagnoses, clinical presentation, and treatment options

et al. 2010

View full text Add to dashboard Cite

Juvenile systemic lupus erythematosus is a rare multisystemic autoimmune disease with variable clinical manifestations, and disease onset before 16 years of age. Patients younger than 5 years are rarely affected and the age of onset may contribute to the course of disease in terms of clinical presentation, organ involvement, and serological findings. Here, we report two exemplary early-onset SLE patients, a 28-month-old patient with WHO class IIB kidney disease, arthritis, and a typical antibody constellation and an 11-month-old infant that presented with microcytic anemia, leukocytosis, arthritis, fasciitis, fatty liver disease, protein losing enteropathy, edema, and minimal change glomerulonephritis. Epidemiologic and clinical features of early-onset SLE compared to other forms of SLE are given and differential diagnoses and treatment options are discussed.

show abstract

Unusual renal presentation of Fabry disease in a female patient

Abstract: Angiotensin-converting-enzyme inhibitors and maintenance treatment with agalsidase-beta, 1 mg/kg body weight, every 2 weeks.

Cited by 7 publications

References 17 publications

Anderson-Fabry Disease

Anderson-Fabry Disease

Case report: enzyme replacement therapy for Fabry disease presenting with proteinuria and ventricular septal thickening

Early onset systemic lupus erythematosus: differential diagnoses, clinical presentation, and treatment options

Contact Info

Product

Resources

About