Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
University Children's Hospital, Pediatric Gastroenterology and Hepatology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Am J Transplant. 2019 Dec;19(12):3328-3334. doi: 10.1111/ajt.15484. Epub 2019 Jun 27.
In primary hyperoxaluria type 1 (PH1), systemic oxalate deposition (oxalosis) in end-stage renal disease (ESRD) is associated with high morbidity and mortality, particularly in children with infantile oxalosis (IO). Combined liver and kidney transplantation (CLKT) is the only curative treatment option in these patients. After CLKT, systemic oxalosis decreases continuously, although only insufficient data are available regarding oxalate retinopathy (ROx), leading to severe visual impairment. We analyzed long-term follow-up data of ROx in 13 patients undergoing CLKT for PH1 at our center between 1998 and 2018. Age at transplantation was 1.3-14.2 years, including nine patients with IO. We performed visual acuity testing, slit lamp investigation, funduscopy, fundus photography, and spectral-domain optical coherence tomography (SD-OCT) imaging. Severe (grade 2-4) ROx was present in all nine children with IO but not in the four patients developing ESRD in adolescence. A significant negative correlation was found between age at onset of ESRD and grade of ROx (r = -0.66; P < .001). Notably, follow-up assessment after CLKT demonstrated no regression of ROx after a median of 5.3 years (range 0.6-14). The data show that despite early CLKT in IO, ROx is irreversible and the concomitant visual deterioration occurs prior to transplantation.
在原发性高草酸尿症 1 型（PH1）中，终末期肾病（ESRD）中的系统性草酸盐沉积（草酸钙沉着症）与高发病率和死亡率相关，特别是在婴儿型草酸钙沉着症（IO）患者中。在这些患者中，联合肝和肾移植（CLKT）是唯一的治愈治疗选择。在 CLKT 后，系统性草酸钙沉着症持续减少，尽管关于草酸盐视网膜病变（ROx）的数据不足，导致严重的视力损害。我们分析了我们中心在 1998 年至 2018 年间为 13 例 PH1 患者进行 CLKT 的 ROx 的长期随访数据。移植时的年龄为 1.3-14.2 岁，包括 9 例 IO 患者。我们进行了视力测试、裂隙灯检查、眼底检查、眼底照相和频域光相干断层扫描（SD-OCT）成像。所有 9 例 IO 儿童均存在严重（2-4 级）ROx，但在青春期发生 ESRD 的 4 例患者中则没有。在 ESRD 发病年龄与 ROx 分级之间发现了显著的负相关（r=-0.66；P<.001）。值得注意的是，在 CLKT 后的随访评估中，在中位数为 5.3 年（范围 0.6-14 年）后，ROx 没有出现逆转。这些数据表明，尽管 IO 中进行了早期 CLKT，但 ROx 是不可逆转的，并且在移植前同时发生视力恶化。
