Pediatric Nephrology, Federal University of Paraná, Curitiba, PR, Brazil.
Pediatric Nephrology, Hospital Pequeno Príncipe, Rua Desembargador Motta, Curitiba, PR, 107080250-060, Brazil.
Eur J Pediatr. 2022 Feb;181(2):715-723. doi: 10.1007/s00431-021-04263-0. Epub 2021 Sep 22.
Fanconi anemia (FA) is a rare disease characterized by progressive bone marrow failure, cancer predisposition, and multiple systemic malformations, including congenital abnormalities of the kidney and urinary tract (CAKUT). Hematopoietic cell transplantation (HCT), the only potentially curative treatment for the hematological complications of FA, may precipitate acute kidney injury (AKI) and hypertension. We retrospectively investigated 107 FA patients who underwent HCT between 2009 and 2017. We investigated the incidence and risk factors of AKI within 100 days after HCT in a cohort of FA patients, and kidney function and hypertension over 2-year follow-up.The incidence of AKI (mainly stage I) was 18.7%. Patients aged ≥ 11 years at transplantation showed a higher risk of AKI (OR 3.53). The eGFR was 60-90 mL/min/1.73 m in 53 (49.5%), 55 (51.4%), 50 (50.5%), 50 (51%), and 46 (59.7%) patients before HCT, at 100 days, 6 months, 1 year, and 2 years. Within the first 100 days after HCT, hypertension was observed in 72% of the patients and was associated with cyclosporine therapy. Most (62.3%) patients had stage 2 hypertension. CAKUT was observed in 33.7% of the patients and was associated with both hypertension (86%) and diminished kidney function but not with AKI.Conlusion: Although AKI, a commonly known HCT complication, was mild in this study, the prevalence of chronic kidney disease (CKD), as well as the high incidence of hypertension, specially associated with CAKUT point out the importance of kidney care in short and long-term follow up of FA patients. What is Known: • Fanconi anemia (FA) is the most frequent inherited bone marrow failure in children, and 30% of cases have congenital anomalies of kidney (CAKUT). • Acute kidney injury and hypertension after hematopoietic cell transplantation (HCT) may impact the outcomes.. What is New: • Despite the presence of CAKUT and stage 2 CKD in 33.7% and 50% of the patients, respectively, AKI was mild and transitory after HCT in FA patients. • CAKUT in FA patients was associated with lower kidney function and hypertension after HCT.
范可尼贫血（FA）是一种罕见的疾病，其特征是进行性骨髓衰竭、癌症易感性和多种全身畸形，包括肾脏和泌尿道的先天性异常（CAKUT）。造血细胞移植（HCT）是治疗 FA 血液学并发症的唯一潜在治愈方法，但可能会引发急性肾损伤（AKI）和高血压。我们回顾性研究了 2009 年至 2017 年间接受 HCT 的 107 例 FA 患者。我们研究了 FA 患者队列中 HCT 后 100 天内 AKI 的发生率和危险因素，以及 2 年随访期间的肾功能和高血压。AKI（主要为 I 期）的发生率为 18.7%。移植时年龄≥11 岁的患者 AKI 风险较高（OR 3.53）。在 HCT 前、100 天时、6 个月时、1 年时和 2 年时，eGFR 为 60-90mL/min/1.73m2 的患者分别为 53（49.5%）、55（51.4%）、50（50.5%）、50（51%）和 46（59.7%）。在 HCT 后 100 天内，72%的患者出现高血压，与环孢素治疗有关。大多数（62.3%）患者患有 2 期高血压。33.7%的患者存在 CAKUT，与高血压（86%）和肾功能下降有关，但与 AKI 无关。结论：尽管 AKI 是一种常见的 HCT 并发症，但在本研究中，慢性肾脏病（CKD）的患病率较高，高血压的发病率也很高，特别是与 CAKUT 有关，这表明在 FA 患者的短期和长期随访中，肾脏护理非常重要。已知：•范可尼贫血（FA）是儿童中最常见的遗传性骨髓衰竭症，30%的病例有肾脏先天性异常（CAKUT）。•造血细胞移植（HCT）后急性肾损伤和高血压可能会影响结果。•未知：•FA 患者 HCT 后 AKI 较轻且短暂，尽管分别有 33.7%和 50%的患者存在 CAKUT 和 2 期 CKD。•FA 患者的 CAKUT 与 HCT 后较低的肾功能和高血压有关。
