An otherwise healthy man (III.1) presented at the age of 37 years with a 1-year history of proteinuria to 4.7 g/d, serum albumin of 3.7 g/dl, and creatinine of 1.39 mg/dl, with an estimated glomerular filtration rate of 64 ml/min per 1.73 m2. Serum C-reactive protein was <3.0 mg/dl and erythrocyte sedimentation rate was 5 mm/h.
Renal ultrasonography was normal except for 2 cysts in the left kidney. Kidney biopsy revealed amyloid A (AA) amyloidosis.
A plasma serum AA (SAA) level was obtained, and the level was surprisingly below the detection threshold of the clinical assay.
Kidney International published a clinical update in Research Highlights on 24 Mar 2026.
The item focuses on A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis.
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