Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.
First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, 11527 Athens, Greece.
Genes (Basel). 2024 Aug 2;15(8):1016. doi: 10.3390/genes15081016.
Alport syndrome (AS) is a hereditary glomerulopathy due to pathogenic variants in , , and Treatment with Renin-Angiotensin-Aldosterone System (RAAS) inhibitors can delay progression to end stage renal disease (ESRD). From 2018 until today, we performed Whole Exome Sequencing (WES) in 19 patients with AS phenotype with or without positive family history. Fourteen of these patients were children. Genetic testing was extended to family members at risk. All patients received a genetic diagnosis of AS: five X-linked AS (XLAS) males, five X-linked AS (XLAS) females, six autosomal dominant AS (ADAS), and one autosomal recessive AS (ARAS). After cascade screening four XLAS males and eight XLAS females, six ADAS and three ARAS heterozygotes were added to our initial results. Fifteen patients were eligible to start treatment with RAAS inhibitors after their diagnosis. All XLAS female patients, ARAS heterozygotes, and ADAS have been advised to be followed up, so that therapeutic intervention can begin in the presence of microalbuminuria. Genetic diagnosis of AS ensures early therapeutic intervention and appropriate follow up to delay progression to chronic kidney disease, especially in thet pediatric population.
Alport 综合征（AS）是一种遗传性肾小球疾病，由 、 和 中的致病变异引起。肾素-血管紧张素-醛固酮系统（RAAS）抑制剂的治疗可以延缓终末期肾病（ESRD）的进展。自 2018 年至今，我们对 19 名具有 AS 表型的患者（无论是否有阳性家族史）进行了全外显子组测序（WES）。其中 14 名患者为儿童。对有风险的家庭成员进行了遗传检测。所有患者均被诊断为 AS：5 名 X 连锁 AS（XLAS）男性，5 名 X 连锁 AS（XLAS）女性，6 名常染色体显性 AS（ADAS）和 1 名常染色体隐性 AS（ARAS）。在对 4 名 XLAS 男性和 8 名 XLAS 女性进行级联筛查后，我们的初始结果又增加了 6 名 ADAS 和 3 名 ARAS 杂合子。15 名患者在确诊后有资格开始使用 RAAS 抑制剂治疗。所有 XLAS 女性患者、ARAS 杂合子和 ADAS 均被建议进行随访，以便在出现微量白蛋白尿时开始治疗干预。AS 的遗传诊断可确保早期治疗干预和适当的随访，以延缓慢性肾脏病的进展，尤其是在儿科人群中。
