Background

H syndrome is a multisystem inflammatory disease caused by mutations in the SLC29A3 gene (OMIM #602782). The protein product, hENT3, is a nucleoside transporter essential for DNA salvage synthesis. Clinical manifestations are hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, short stature, skeletal deformities, and diabetes mellitus. Laboratory findings are consistent with inflammatory processes. Structural kidney anomalies have been described in 6% of patients.

Case reports

Three family members with genetically diagnosed H syndrome (c.1279G>A, p.Gly427Ser). Two of them presented with hypoalbuminemia and nephrotic range proteinuria. Kidney ultrasound was normal. Kidney biopsy performed in one patient presenting with generalized peripheral pitting edema revealed membranous nephropathy. Different treatments including ACE inhibitors, corticosteroids, and immunomodulatory agents failed to improve the clinical outcome.

Conclusions

Generalized peripheral pitting edema and glomerulopathy broaden the clinical spectrum of H syndrome. Periodic bloodwork and urinalysis are recommended.

Graphical abstract

中文翻译：

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H 综合征患儿的肾小球受累

背景

H 综合征是由SLC29A3基因 (OMIM #602782)突变引起的多系统炎症性疾病。蛋白质产物 hENT3 是 DNA 补救合成必不可少的核苷转运蛋白。临床表现有色素沉着、多毛、肝脾肿大、听力下降、心脏异常、性腺机能减退、身材矮小、骨骼畸形和糖尿病。实验室检查结果与炎症过程一致。在 6% 的患者中描述了结构性肾脏异常。

病例报告

三名家族成员基因诊断为 H 综合征（c.1279G>A，p.Gly427Ser）。其中两人出现低白蛋白血症和肾病范围蛋白尿。肾脏彩超正常。对一名出现全身性外周凹陷性水肿的患者进行的肾活检显示膜性肾病。包括ACE抑制剂、皮质类固醇和免疫调节剂在内的不同治疗未能改善临床结果。

结论

广泛的外周凹陷性水肿和肾小球病扩大了 H 综合征的临床范围。建议定期进行血液检查和尿液分析。

图形概要