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Article

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

Pediatric nephrology (Berlin, Germany) - 1 Dec 2026

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Humans
Infant, Newborn
Male
Bartter Syndrome
Diagnosis, Differential
Homozygote

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Infant, Premature

Kidney

Kidney Diseases

Phenotype

Urogenital Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 40569305
DOI: 10.1007/s00467-025-06804-3
PMCID: PMC12686043

Genes

TFCP2L1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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