SynthesisInternational urology and nephrology2025
Clinical manifestations, diagnosis and treatment of hereditary fibrinogen Aα-chain renal amyloidosis: one case report and systematic review.
Synthesis in International urology and nephrology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Pathogenesis and kidney prognosis of renal amyloidosis.Cellular and molecular life sciences : CMLS · 2026Review
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Abstract
purposeWe reported a confirmed case of Fibrinogen Aa-chain (AFib) amyloidosis and conducted systematic review of the genetic and protein mutation types, clinical manifestations, diagnostic methods and treatment for patients with this disease worldwide.
methodsWe reported a case of AFib amyloidosis. Meanwhile, a systematic search was performed using defined terms and updated up to November 2023 in the Wanfang, China National Knowledge Infrastructure, VIP, PubMed, and Web of Science databases to identify reported cases of AFib renal amyloidosis worldwide, according to PRISMA guidelines.
resultsA 46-year-old male patient was admitted for more than half a month because of oedematous lower limbs. Renal tissue mass spectrometry suggested an AFib type. Gene detection demonstrated that the patient carried the c.1673del (p.Lys558Argfs*10) locus heterozygous mutation of Fibrinogen Aα-chain gene (FGA). The patient was treated with haemodialysis because of uncontrollable hypertension. This systematic review comprised 46 cases. We found the onset age to be lower in women than in men (P < 0.05). All patients showed incipient symptoms including proteinuria; 10 (21.7%) patients progressed to end-stage renal disease (ESRD) or received renal replacement therapy (including dialysis and kidney transplantation) within 1 year; 18 (39.1%) patients progressed to ESRD or received renal replacement therapy within 1-5 years, and 4 (8.7%) patients did not progress to ESRD or received renal replacement therapy within 5 years.
conclusionAFib amyloidosis progresses rapidly. The diagnosis of this disease is primarily based on renal biopsy, mass spectrometry, and molecular gene detection. Reducing proteinuria is the main method of treating this disease. PROSPERO REGISTRATION NUMBER: CRD42024516146.
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