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Abstract <p>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 <i>TFCP2L1 </i>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 <i>TFCP2L1 </i>gene pathogenic variants with a similar phenotype. This report adds evidence to <i>TFCP2L1</i> 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.</p>

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Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年6月26日

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  • Manuel Vaqueiro Graña,
  • Leire Madariaga,
  • Sara Gómez-Conde,
  • Ainhoa Iceta Lizarraga,
  • Josune Hualde Olascoaga,
  • Gema Ariceta

摘要

Abstract

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.