WDR72 Gene Variant Associated With Distal Renal Tubular Acidosis, Enuresis, Enamel Hypoplasia, Renal Cysts, and Renal Calculi: A Case Report.

Amelogenesis imperfecta IIA3, caused by mutations in the tryptophan-aspartate repeat domain 72 (WDR72) gene, has recently been linked to distal renal tubular acidosis (dRTA). This genetic cause of dRTA has been rarely reported, and its full phenotypic spectrum is still being explored. This case report aims to share the clinical presentation and genetic findings of a recently encountered patient with this genetic variant. An eight-year-old girl presented with nocturnal enuresis and enamel hypoplasia. Laboratory investigations revealed normal anion gap metabolic acidosis with inappropriately high urine pH, along with nephrocalcinosis, renal calculi, and a renal cyst. Genetic testing confirmed the presence of a variant in the WDR72 gene. In addition to the known complications of dRTA, such as nephrocalcinosis and renal calculi, this variant might also be associated with renal cysts. This case adds to the limited literature by suggesting a possible association between WDR72 variants and renal cysts, an uncommon finding that may expand the phenotypic spectrum of this condition.