Amyloidosis presenting with Fabry disease

Tansinda, Pius; Manenti, Lucio; Gregorini, Marilena; Foroni, Moira; Pasquali, Stefano

doi:10.3109/13506129.2011.574354087

Cited by 2 publications

(2 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The literature review identifies one case of a 69‐year‐old woman with a history rheumatoid arthritis treated with steroids, methotrexate and anti‐Tumour Necrosis Factor 8 . She was referred for nephrotic syndrome.…”

Section: Resultsmentioning

confidence: 99%

AA amyloidosis associated with Fabry disease

Terré

Buob

Rabant³

et al. 2020

Int. J. Clin. Pract.

View full text Add to dashboard Cite

Background Fabry disease (FD) is the second most common lysosomal storage disorder, carrying a large morbidity and mortality. It has been recently reported that lysosomal storage disorders could cause inflammation and, subsequently, AA amyloidosis (AAA). Our aim was to describe AAA cases occurring in the course of FD. Patients and Methods We described two patients displaying both AAA and FD and an additional case from the literature. Results Three female patients originating from Europe (n = 2) and Algeria (n = 1) harboured heterozygous GLA mutations. The median age at AAA diagnosis was 61 years old. The diagnosis of Fabry was made before the diagnosis of AAA (n = 1) or concomitantly (n = 2). At AAA diagnosis, two patients displayed a nephrotic syndrome; all had inflammation. Conclusion Fabry disease can be associated with AAA, suggesting that an inflammatory component could exist in this genetic disease.

show abstract

Section: Resultsmentioning

confidence: 99%

AA amyloidosis associated with Fabry disease

Terré

Buob

Rabant³

et al. 2020

Int. J. Clin. Pract.

View full text Add to dashboard Cite

show abstract

“…Historically, it is the most common type of amyloidosis and was usually attributed to chronic infections including tuberculosis, but the advent and accessibility of effective antimicrobial therapy have resulted in shifting demographics, especially in developed countries [15,16]. In the USA, autoimmune diseases including rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, and inflammatory bowel disease are the most common causes of those with known etiologies, though other causes including hereditary cases such as Familial Mediterranean fever can also be seen [16][17][18][19]. As in this index case, there are a growing number of amyloidosis cases among younger patients with a history of intravenous drug use [20,21].…”

Section: Pathology Differential Diagnosismentioning

confidence: 99%

Kidney Biopsy Corner: Amyloidosis

Biederman,

Dasgupta,

Dreyfus

et al. 2023

Glomerular Dis

View full text Add to dashboard Cite

Amyloidosis is an infiltrative disease caused by misfolded proteins depositing in tissues. Amyloid infiltrates the kidney in several patterns. There are, as currently described by the International Society of Amyloidosis, 14 types of amyloid that can involve the kidney, and these types may have different locations or clinical settings. Herein we report a case of AA amyloidosis occurring in a 24-year-old male with a history of intravenous drug abuse and provide a comprehensive review of different types of amyloids involving the kidney.

show abstract

Amyloidosis presenting with Fabry disease

Cited by 2 publications

References 2 publications

AA amyloidosis associated with Fabry disease

AA amyloidosis associated with Fabry disease

Kidney Biopsy Corner: Amyloidosis

Contact Info

Product

Resources

About