ArticleClinical kidney journal2013
Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases.
Article in Clinical kidney journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Gelsolin amyloidosis associated with the p.D214N gelsolin gene mutation in a Chinese family.Kidney research and clinical practice · 2024Article
- Renal amyloidosis: a new time for a complete diagnosis.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2022Review
- Hearing problems in patients with hereditary gelsolin amyloidosis.Orphanet journal of rare diseases · 2021Article
- The first Chinese renal gelsolin amyloidosis with the p.Asp174Asn mutation in the GSN gene: Nephrology picture.Journal of nephrology · 2021Article
- Renal amyloidosis: an update on diagnosis and pathogenesis.Protoplasma · 2020Review
- Gelsolin pathogenic Gly167Arg mutation promotes domain-swap dimerization of the protein.Human molecular genetics · 2018Article
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Finnish-type familial amyloidosis (FAF) is a rare hereditary systemic amyloidosis that mainly exhibits cranial neuropathy. We describe a Japanese family with FAF manifested predominantly as renal amyloidosis. The proband was a 42-year-old woman with a 21-year history of proteinuria due to renal amyloidosis. Her mother was subsequently diagnosed with a similar disorder. After the first renal biopsy, both patients were followed up routinely for a period of 14 years. Genetic analysis of DNA samples revealed a heterozygous G654A gelsolin mutation. Severe renal involvement has not been reported previously in patients with FAF bearing a heterozygous gelsolin mutation.
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