Renal cysts in WDR72-associated distal renal tubular acidosis: expanding the phenotypic spectrum.

Abstract excerpt

Pathogenic variants in the WDR72 gene are known to cause hypoplastic amelogenesis imperfecta (AI) and have recently been linked to distal renal tubular acidosis (dRTA). This case report highlights an unusual presentation of WDR72-associated dRTA with renal cysts. A 12-year-old boy presented with difficulty walking, lower limb deformities, and significant growth retardation. On examination, hypoplastic AI,...

Topics

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• Kidney Diseases, Cystic
• Acidosis, Renal Tubular
• Amelogenesis Imperfecta
• Exome Sequencing
• Hypercalciuria