Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants.
Manuel Vaqueiro Graña, Leire Madariaga, Sara Gómez-Conde et al.
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Case in brief
A preterm male infant born to consanguineous parents presented with advanced kidney dysfunction and severe renal salt wasting, suggesting prenatal-onset Bartter syndrome. He developed marked polyuria, episodes of hyponatremia, hypokalemia and hypochloremia, metabolic alkalosis, and hyperuricemia. Genetic testing identified a homozygous pathogenic variant in TFCP2L1, a gene involved in kidney development and salt-water and acid-base homeostasis. The report describes severe kidney dysplasia associated with this variant as a mimic of primary tubulopathy; the abstract does not specify the clinical outcome or resolution of the infant’s condition.
What made this case unusual
Severe kidney dysplasia associated with a TFCP2L1 pathogenic variant presented with a phenotype strongly resembling prenatal-onset Bartter syndrome, a diagnostic mimic of primary renal salt-wasting tubulopathy.
Diagnostic / clinical pearl
Consider genetic testing for kidney dysplasia in infants with a salt-wasting phenotype, particularly when the course is refractory to standard treatment; a developmental kidney disorder can mimic a primary tubulopathy.
Why it matters
Identifying a genetic cause may help guide management and support family counselling.