Abstract
Aim: The detection and prognosis of nephropathy in transthyretin amyloidosis depends on albuminuria and renal function. Knowing that urinary levels of alpha-1 microglobulin and beta-2 microglobulin reflect tubular dysfunction while urinary alpha-2 macroglobulin implies glomerular damage, we decide investigate the diagnostic value of these markers in the patients with transthyretin amyloidosis. Methods: Serum and urinary samples collected from 30 patients and 11 asymptomatic carriers were tested for alpha-1 microglobulin, beta-2 microglobulin, alpha-2 macroglobulin, albumin, creatinine and cystatin C. Results: Pathological urinary alpha-1 microglobulin was detected in 17 patients, beta-2 microglobulin in 6 and alpha-2 macroglobulin in 5; 5 patients had albuminuria (mg/g creatinine) 30-300 and in 20 patients values >300 were present. Asymptomatic carriers did not present pathological excretion of these biomarkers and albuminuria was >30 in 1 individual. The excretion rates of alpha-1 microglobulin and beta-2 microglobulin were positively correlated with albuminuria (P<0.001), serum creatinine (P<0.05) and cystatin C (P<0.001). Urinary alpha-2 macroglobulin was almost exclusively found in the presence of albuminuria, although their levels do not correlate. Conclusion: Urinary biomarkers emerge as a potential approach to detect renal disease but unexpectedly, urinary alpha-2 macroglobulin was not a marker of the severity of albuminuria
Highlights
The Amyloidoses Associated with Transthyretin (ATTR) are autosomal-dominant diseases related to at least 100 different Transthyretin (TTR) mutations
The single amino-acid substitution of methionine for valine at position 30 is the most common [1]. This disorder was initially thought to follow a benign evolution concerning the kidney, it was later recognized that progression to EndStage Renal Disease (ESRD) occurs in up to 10 percent of patients as natural course of the disease [2]
The detection and prognosis of ATTR nephropathy depend on the presence of albuminuria and an elevated serum creatinine concentration
Summary
The Amyloidoses Associated with Transthyretin (ATTR) are autosomal-dominant diseases related to at least 100 different Transthyretin (TTR) mutations. The single amino-acid substitution of methionine for valine at position 30 is the most common [1]. This disorder was initially thought to follow a benign evolution concerning the kidney, it was later recognized that progression to EndStage Renal Disease (ESRD) occurs in up to 10 percent of patients as natural course of the disease [2]. The detection and prognosis of ATTR nephropathy depend on the presence of albuminuria and an elevated serum creatinine concentration. These are correlated with the amount of amyloid in the glomeruli, arterioles, and medium vessels. Proximal tubular epithelial cells contained reabsorption-like droplets TTR positive and Congo-red stain negative, but clinical expression of tubular dysfunction has not been described until now [2]
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