Division of Nephrology and Rheumatology, National Center for Child Health and Development.
Department of Pediatrics, Kobe University Graduate School of Medicine.
Tohoku J Exp Med. 2020 Sep;252(1):45-51. doi: 10.1620/tjem.252.45.
Denys-Drash syndrome is characterized by progressive nephropathy, gonadal dysgenesis, and Wilms tumor caused by a WT1 gene mutation. Infants with Denys-Drash syndrome frequently experience severe hypertension, but detailed clinical manifestations have yet to be clarified. Cases of infantile-onset Denys-Drash syndrome with severe hypertension at our hospital were retrospectively analyzed and the pathogenesis of hypertension was investigated. Six infants who received the diagnosis of Denys-Drash syndrome at the median age of 10 days (range: 2-182 days) were enrolled. Five infants had the complication of severe hypertension within a few days of diagnosis. All the patients showed rapid progression to end-stage renal disease and urgently required dialysis due to anuria/oliguria and hypervolemia with a median duration of 7.5 days (range: 0-17 days) on the day after diagnosis. Even under dialysis, all the patients continued to need antihypertensive treatment. Five patients underwent a preventive nephrectomy for Wilms tumor, and one patient underwent a nephrectomy due to progression to Wilms tumor. Two patients developed hypotension after a nephrectomy. The main causes of hypertension were hypervolemia in the predialysis stage, renin-associated hypertension in the dialysis stage, and multiple factors, including increased plasma catecholamine-associated hypertension in the postnephrectomy dialysis stage. At last the follow-up after bilateral nephrectomy, four of the five patients required antihypertensive treatment. Not all the patients showed target organ complications caused by hypertension. Severe hypertension is a common complication of infantile-onset Denys-Drash syndrome. The possibility of hypotension after nephrectomy should be considered in patients with Denys-Drash syndrome.
Denys-Drash 综合征的特征为进行性肾病、性腺发育不良和 WT1 基因突变导致的肾母细胞瘤。Denys-Drash 综合征婴儿常发生严重高血压，但详细的临床表现尚未阐明。本研究回顾性分析我院收治的婴儿起病的 Denys-Drash 综合征伴严重高血压病例，并探讨高血压的发病机制。纳入我院诊断为 Denys-Drash 综合征的 6 例婴儿，中位发病年龄 10 天（范围：2-182 天）。5 例婴儿在诊断后数天内并发严重高血压。所有患者均因无尿/少尿和高血容量导致肾功能迅速进展至终末期肾病，需紧急透析，中位发病后第 7.5 天（范围：0-17 天）开始透析。即使透析后，所有患者仍需持续降压治疗。5 例行预防性肾切除术治疗肾母细胞瘤，1 例因进展为肾母细胞瘤而行肾切除术。2 例肾切除术后发生低血压。高血压的主要原因为透析前的高血容量、透析时的肾素相关高血压和术后透析时的多种因素，包括血浆儿茶酚胺增加引起的高血压。最后在双侧肾切除术后的随访中，5 例患者中有 4 例需要降压治疗。并非所有患者均出现由高血压引起的靶器官并发症。严重高血压是婴儿起病的 Denys-Drash 综合征的常见并发症。Denys-Drash 综合征患者行肾切除术后可能出现低血压，应予以考虑。
