Renal tubular acidosis in hereditary transthyretin amyloidosis (ATTRv).

Priscilla Cardim Fernandes, Moises Dias da Silva, Marcia Waddington-Cruz, Carlos Perez Gomes
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Abstract

Introduction: Hereditary transthyretin amyloidosis (ATTRv) is a severe autosomal dominant systemic disease. It affects the peripheral and autonomic nervous systems, heart, kidneys, and eyes. Amyloid deposition has been demonstrated in the glomerular and tubulointerstitial compartments of the kidney. Therefore, urinary acidification disorders such as renal tubular acidosis (RTA) may be early manifestations of renal involvement in this population.

Objective: To evaluate the prevalence of RTA in individuals with ATTRv.

Methods: We included symptomatic and asymptomatic individuals with TTR mutation, older than 18 years, GFR >45 mL/min/1.73m2, without systemic metabolic acidosis. Urinary acidification protocol was performed with furosemide and fludrocortisone after 12 h of water deprivation (water deprivation test - WDT) and measurements of urine ammonium ( UNH 4 + ) and titratable acidity (UTA). Proximal RTA (pRTA) was diagnosed when FEHCO3>10%. Incomplete form distal RTA (dRTA) was diagnosed if UpH>5.3.

Results: We selected 49 individuals with a mean age of 40 (35.5-56.5) years, 63% of which were female, 84% were Caucasian, and mean GFR was 85.5 ± 20.5 mL/min/1.73m2. 94% had the genetic variant Val50Met and 57% were symptomatic. The prevalence of pRTA was 2% and of dRTA was 16.3%. In the subgroup with dRTA, there was no significant increase in excretion of UNH 4 + and UTA. We observed a good correlation between UpH by potentiometry and UpH dipstick. A UpH<5.5 on the dipstick had 100% sensitivity and negative predictive value to exclude dRTA.

Conclusion: A high prevalence of RTA was found in individuals with TTR mutations. The UpH dipstick after WDT had good accuracy for screening for dRTA. Further studies are needed to evaluate the impact of early diagnosis and treatment of RTA in this population.

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遗传性转甲状腺素淀粉样变性(ATTRv)的肾小管酸中毒。
导言遗传性转甲状腺素淀粉样变性(ATTRv)是一种严重的常染色体显性系统疾病。它影响外周和自主神经系统、心脏、肾脏和眼睛。淀粉样蛋白沉积已在肾小球和肾小管间质中得到证实。因此,肾小管酸中毒(RTA)等尿酸化紊乱可能是该人群肾脏受累的早期表现:评估 ATTRv 患者的 RTA 患病率:我们纳入了有症状和无症状的 TTR 基因突变患者,年龄大于 18 岁,GFR >45 mL/min/1.73m2,无全身代谢性酸中毒。缺水 12 小时后,使用呋塞米和氟氢可的松进行尿液酸化试验(缺水试验 - WDT),并测量尿铵(UNH 4 +)和可滴定酸度(UTA)。当 FEHCO3>10% 时,可诊断为近端 RTA(pRTA)。如果 UpH>5.3 则诊断为不完全型远端 RTA(dRTA):我们选取了 49 名平均年龄为 40(35.5-56.5)岁的患者,其中 63% 为女性,84% 为白种人,平均 GFR 为 85.5 ± 20.5 mL/min/1.73m2。94%的患者有遗传变异Val50Met,57%的患者无症状。pRTA 患病率为 2%,dRTA 患病率为 16.3%。在 dRTA 亚组中,UNH 4 + 和 UTA 的排泄量没有明显增加。我们观察到,电位测定法检测的尿酸与用量式尿酸测定仪检测的尿酸之间存在良好的相关性。结论在TTR突变患者中发现RTA的发病率很高。WDT后的UpH量表在筛查dRTA方面具有良好的准确性。需要进一步研究以评估早期诊断和治疗 RTA 对这一人群的影响。
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CiteScore
2.20
自引率
16.70%
发文量
208
审稿时长
16 weeks
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