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Phenotypic variability in distal acidification defects associated with WDR72 mutations.

Priyanka Khandelwal1, Mahesh V1, Vijay Prakash Mathur2

  • 1Division of Nephrology, Department of Pediatrics, ICMR Center for Advanced Research in Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.

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|October 9, 2020
PubMed
Summary

Mutations in the WDR72 gene cause distal renal tubular acidosis (RTA) and dental enamel defects. This finding expands the genetic causes of RTA, particularly in patients with amelogenesis imperfecta.

Keywords:
Amelogenesis imperfectaChildrenFanconi syndromeHypokalemiaNephrocalcinosisRenal tubular acidosis

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Area of Science:

  • Genetics
  • Nephrology
  • Pediatrics

Background:

  • Distal renal tubular acidosis (RTA) is often caused by mutations in ATP6V0A4, ATP6V1B1, and SLC4A1.
  • WDR72 is a recently identified gene associated with dental enamel defects and RTA.

Purpose of the Study:

  • To investigate the genetic basis of RTA in patients with amelogenesis imperfecta.
  • To identify novel genetic causes of distal RTA.

Main Methods:

  • Described four patients from three consanguineous families with RTA and amelogenesis imperfecta.
  • Evaluated distal tubular acidification using furosemide-fludrocortisone testing and urine-to-blood PCO2 gradient.
  • Performed exome sequencing on a panel of disease-implicated genes.

Main Results:

  • All patients presented with polyuria, hypokalemia, hypercalciuria, and nephrocalcinosis, with variable metabolic acidosis.
  • Despite intact urine acidification capacity, patients exhibited impaired bicarbonate reabsorption.
  • Homozygous pathogenic truncating variants in WDR72 were identified in all affected individuals.

Conclusions:

  • WDR72 mutations result in mild distal RTA with variable metabolic acidosis and potential proximal tubular dysfunction.
  • WDR72 should be considered in the genetic evaluation of distal RTA, especially when dental defects are present.