[Cystinuria in children: A report of 4 cases]

Area of Science:

• Nephrology
• Medical Genetics

Background:

• Cystinuria is an inherited autosomal-recessive disorder impacting renal reabsorption of dibasic amino acids.
• It accounts for approximately 6% of pediatric kidney stones, characterized by relatively insoluble cystine at physiological urine pH.
• Frequent recurrence of cystine stones is a hallmark of the condition.

Observation:

• This report details four cases of cystinuria, outlining their initial presentations.
• Presentations included obstructive renal failure, urinary sepsis, and familial screening.
• The study describes both the medical and surgical management strategies employed.

Findings:

• Medical management focuses on hyperhydration and urine alkalinization.
• Long-term sulfhydryl agent therapy shows potential for preventing renal stone formation but frequently causes adverse effects necessitating treatment withdrawal.
• Urological management has advanced from open surgical stone removal to less invasive methods like extracorporeal shock wave lithotripsy and ureteroscopy.

Implications:

• Effective management strategies for cystinuria require a combination of medical and surgical approaches.
• Minimally invasive urological procedures offer improved outcomes for stone management.
• Further research into safer, long-term medical therapies for cystinuria is warranted to mitigate side effects.