Renal stones in two children with two rare etiologies

Area of Science:

• Pediatric Nephrology
• Medical Genetics
• Urology

Background:

• Increasing incidence of pediatric urolithiasis linked to dietary shifts, reduced physical activity, and obesity.
• Rare inherited conditions like cystinuria and 2,8-dihydroxyadenine (DHA) urolithiasis contribute to pediatric kidney stones.
• Cystinuria involves impaired renal cystine reabsorption, while DHA urolithiasis stems from adenine phosphoribosyltransferase deficiency.

Observation:

• Two children presented with renal stones.
• Case 1: Diagnosed with cystinuria, an inherited disorder affecting renal proximal tubule function.
• Case 2: Diagnosed with 2,8-dihydroxyadenine (DHA) urolithiasis, an autosomal recessive condition due to APRT deficiency.

Findings:

• Detailed clinical presentation and diagnostic findings for both cystinuria and DHA urolithiasis in pediatric patients.
• Confirmation of the genetic basis for these rare stone-forming conditions.
• Successful management strategies tailored to the specific metabolic defects.

Implications:

• Highlights the importance of considering rare genetic disorders in pediatric stone disease evaluation.
• Emphasizes the need for early diagnosis and genetic counseling for affected families.
• Contributes to understanding the spectrum of inherited nephrolithiasis in children.