Townes–Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in SALL1 gene and initially characterized by the triad of anorectal, thumb, and ear malformations. Essentially described in children, adult case reports are uncommon. Renal involvement has already been reported in adults and children but poorly described. Structural abnormalities such as hypodysplasia, unilateral renal agenesis or multicystic kidneys have been described, as well as functional impairment (with or without structural abnormalities) that may progress to end‐stage renal disease (ESRD). We report two adult cases (mother and daughter) which exhibited kidney hypoplasia (focal and segmental glomerulosclerosis for the mother) and ESRD. The mother had unilateral polydactyly. TBS was suggested after physical examination. TBS diagnosis was confirmed by identification of a SALL1 variant. We conducted a literature review to evaluate the renal anomalies in TBS cases diagnosed in adulthood. Among 44 adult cases of TBS with genetic confirmation (including our two cases), 10 had kidney disease. The circumstances of renal failure diagnosis were incidental findings (2/5), gout (2/5), or repeated episodes of pyelonephritis (1/5). The median age of kidney disease diagnosis was 30 years old and of renal transplant 49 years old. The most frequent renal malformation was bilateral kidney hypoplasia. TBS is probably underestimated in adulthood and this report highlights that less obvious elements of morphology such as dysplasic ears can facilitate the diagnosis of TBS. As long‐term prognosis of renal involvement in TBS patients remains largely unknown, a regular evaluation is required throughout life for patients.

中文翻译：

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伴有肾功能衰竭的Townes-Brocks综合征的成人诊断：两例相关病例并文献复习

Townes-Brocks综合征（TBS）是一种罕见的常染色体显性综合征，由SALL1中的杂合变异引起基因，最初以肛门直肠，拇指和耳朵畸形三联征为特征。成人病例报告基本上在儿童中描述，很少见。成年人和儿童都有肾脏受累的报道，但描述不清。已经描述了结构异常，例如发育不良，单侧肾发育不全或多囊肾，以及可能发展为终末期肾病（ESRD）的功能障碍（有无结构异常）。我们报告了两个成年人病例（母亲和女儿），表现出肾脏发育不全（母亲的局灶性和节段性肾小球硬化症）和ESRD。母亲多侧多侧。身体检查后建议进行TBS。通过鉴定SALL1证实TBS诊断变体。我们进行了文献综述，以评估在成年后诊断的TBS病例中的肾脏异常。在44例经遗传学证实的成人TBS病例中（包括我们的2例），有10例患有肾脏疾病。肾衰竭诊断的情况是偶然发现（2/5），痛风（2/5）或反复发作​​的肾盂肾炎（1/5）。肾脏疾病诊断的中位年龄为30岁，肾脏移植的中位年龄为49岁。肾畸形最常见的是双侧肾发育不全。TBS在成年期可能被低估了，该报告强调指出，不太明显的形态元素（如发育异常的耳朵）可以促进TBS的诊断。由于TBS患者肾脏受累的长期预后仍然未知，因此需要对患者进行终生定期评估。