Vaqueiro Graña Manuel, Madariaga Leire, Gómez-Conde Sara, Iceta Lizarraga Ainhoa, Hualde Olascoaga Josune, Ariceta Gema
Department of Pediatric Nephrology, Vall D'Hebron University Hospital, Barcelona, Spain.
Pediatric Nephrology Department, CIBERDEM/CIBERER/Endo-ERN, Biobizkaia Health Research Institute, University of the Basque Country, Cruces University Hospital, Plaza de Cruces S/N, 48903, Barakaldo, Spain.
Pediatr Nephrol. 2025 Jun 26. doi: 10.1007/s00467-025-06804-3.
Rare monogenic diseases are increasingly identified in children with chronic kidney disease. We describe a consanguineous preterm male infant with a clinical picture of advanced kidney dysfunction and severe renal salt-wasting, highly suggestive of prenatal onset Bartter syndrome. Patient's follow-up was characterized by severe polyuria; episodes of hyponatremia, hypokalemia, and hypochloremia; and metabolic alkalosis and hyperuricemia. We found a homozygous pathogenic variant in the TFCP2L1 gene, a transcription factor required for normal kidney development, that regulates acid-base and salt-water homeostasis. To our knowledge, there is only one published case of a child with TFCP2L1 gene pathogenic variants with a similar phenotype. This report adds evidence to TFCP2L1 as a cause of monogenic kidney disorders. Rare kidney dysplasias may manifest as phenocopies of primary tubulopathies. Genetic diagnosis plays a major role and should be carefully considered in patients with refractory course to standard treatment to facilitate management and family counselling.
在患有慢性肾病的儿童中，越来越多地发现了罕见的单基因疾病。我们描述了一名近亲早产男婴，其临床表现为晚期肾功能不全和严重肾性失盐，高度提示产前发病的巴特综合征。患者随访期间表现为严重多尿；低钠血症、低钾血症和低氯血症发作；以及代谢性碱中毒和高尿酸血症。我们在TFCP2L1基因中发现了一个纯合致病性变异，该基因是正常肾脏发育所需的转录因子，可调节酸碱和盐水平衡。据我们所知，仅有一例已发表的携带TFCP2L1基因致病性变异且具有相似表型的儿童病例。本报告为TFCP2L1作为单基因肾病的病因增加了证据。罕见的肾发育异常可能表现为原发性肾小管病的表型模拟。基因诊断起着主要作用，对于标准治疗效果不佳的患者应仔细考虑，以利于管理和家庭咨询。
