Haydock Ludwig, Hureaux Marguerite, Hoffmann Maxime, Vargas-Poussou Rosa, Knebelmann Bertrand
Service de Néphrologie Adulte, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP) Université Paris Cité, Paris, France.
Department of Medicine, Nephrology Research Group, Laval University, Quebec City, Quebec, Canada.
Clin Kidney J. 2025 Jan 10;18(8):sfae408. doi: 10.1093/ckj/sfae408. eCollection 2025 Aug.
Renal Fanconi syndrome (FS) can be either acquired or inherited. When FS presents at a young age, it is typically inherited, with cystinosis being the most common cause. In this report we describe a rare cause of autosomal dominant Fanconi syndrome, Fanconi renotubular syndrome type 3 (FRTS3), caused by the already reported heterozygous p.E3K variant in the gene. Only two FRTS3 families have been reported in the literature, and the kidney function was stated as normal or only slightly decreased into late life. Our family expands the spectrum of FRTS3, with some individuals showing only glucosuria and mild low-molecular-weight proteinuria, while others exhibited complete Fanconi syndrome with rickets. Importantly, we observed impairment of kidney function at a young age in our proband, highlighting a broader phenotypic variability associated with FRTS3.
肾性范科尼综合征（FS）可分为获得性或遗传性。FS若在年轻时出现，通常为遗传性，其中胱氨酸贮积症是最常见的病因。在本报告中，我们描述了一种常染色体显性范科尼综合征的罕见病因，即3型范科尼肾小管综合征（FRTS3），它由该基因中已报道的杂合p.E3K变异引起。文献中仅报道了两个FRTS3家系，且肾功能在晚年时被描述为正常或仅轻微下降。我们的家系扩展了FRTS3的谱系，一些个体仅表现为糖尿和轻度低分子量蛋白尿，而另一些则表现为伴有佝偻病的完全性范科尼综合征。重要的是，我们在先证者年轻时观察到了肾功能损害，这突出了与FRTS3相关的更广泛的表型变异性。
