Search

BackgroundPrimary hyperoxaluria type 1 (PH1) is a rare disease with autosomal recessive transmission, characterized by increased urinary excretion of oxalate, resulting in chronic kidney disease secondary to recurrent urolithiasis, nephrocalcinosis, and accumulation of oxalate in various organs and tissues (systemic oxalosis). Since 2020, an innovative pharmacological approach, namely, lumasiran, has been added to the therapeutic armamentarium (dialysis and liver-kidney transplantation). The purpose of this paper is to describe the effect of lumasiran initiated at 10 days of life in a newborn with prenatally diagnosed PH1. A female fetus was prenatally diagnosed with hyperoxaluria type 1, based on family history and genetic testing. Her brother had the onset of the disease at 2 months of age and underwent liver and kidney transplantation at 13 months and 8 years of age, respectively. The baby was born late preterm at 36 weeks + 4 days of gestation via spontaneous labor, and lumasiran for compassionate use was started on the tenth day of life. At 20 months of age, the baby showed normal urinary oxalate values and kidney function, while the plasma oxalate level was under the threshold of oversaturation. There were no signs of systemic oxalosis.ConclusionsEarly use of lumasiran in young infants, who do not yet show signs of the disease, represents a therapeutic challenge for the pediatric nephrologist. The ability of the drug to act on the hepatocyte of the newborn and the most appropriate dosage to be used in these very young babies have yet to be clarified.

New technological innovations and cutting-edge techniques have led to important changes in the surgical management of pediatric urolithiasis. Miniaturized technologies and minimally invasive approaches have been increasingly used in children with urinary stones to minimize surgical complications and improve patient outcomes. Moreover, the new computer technologies of the digital era have been opening new horizons for the preoperative planning and surgical treatment of children with urinary calculi. Three-dimensional modeling reconstructions, virtual, augmented, and mixed reality are rapidly approaching the surgical practice, equipping surgeons with powerful instruments to enhance the real-time intraoperative visualization of normal and pathological structures. The broad range of possibilities offered by these technological innovations in the adult population finds increasing applications in pediatrics, offering a more detailed visualization of small anatomical structures. This review illustrates the most promising techniques and devices to enhance the surgical treatment of pediatric urolithiasis in children, aiming to favor an early adoption and to stimulate more research on this topic.