Nephrocalcinosis can disappear in infants receiving early lumasiran therapy.

BACKGROUND: Lumasiran is the first RNA interference (RNAi) therapy of primary hyperoxaluria type 1 (PH1). Here, we report on the rapid improvement and even disappearance of nephrocalcinosis after early lumasiran therapy. CASE-DIAGNOSIS/TREATMENT: In patient 1, PH1 was suspected due to incidental discovery of nephrocalcinosis stage 3 in a 4-month-old boy. Bilateral nephrocalcinosis stage 3 was diagnosed in patient 2 at 22 months concomitantly to acute pyelonephritis. Urinary oxalate (UOx) and glycolate (UGly) were increased in both patients allowing to start lumasiran therapy before genetic confirmation. Nephrocalcinosis started to improve and disappeared after 27 months and 1 year of treatment in patients 1 and 2, respectively. CONCLUSION: These cases illustrate the efficacy of early lumasiran therapy in infants to improve and even normalize nephrocalcinosis. As proposed in the 2023 European guidelines, the interest of starting treatment quickly without waiting for genetic confirmation may have an impact on long-term outcomes.

Early Diagnosis of Left Pulmonary Artery Sling During First Week of Life in a Term Baby Boy: A Case Report.

Pulmonary artery sling is a rare cause of neonatal respiratory distress. Most patients with pulmonary artery sling present in early infancy with stridor and signs of respiratory distress. Diagnosis of pulmonary artery sling, like other vascular ring anomalies, can be made using various imaging modalities, and management encompasses urgent surgical repair as a definitive treatment. This is the first paper to report a successfully managed case of an early detected left pulmonary artery sling during the first week of life in a term male patient and to evaluate the diagnostic characteristics in alliance with it. CAse REports (CARE) guidelines were followed for reporting our case. In brief, a case of full-term baby boy was born by normal vaginal delivery and shortly after birth, the baby started to have respiratory distress not improving on O2. Chest X-ray revealed right upper lobe atelectasis which persisted despite mechanical ventilation and antibiotics. A thoracic CT scan showed developmental malformation of left main pulmonary artery, confirming the diagnosis of "left pulmonary artery sling." The baby was immediately operated. One week later, chest X-ray showed gradual improvement and the baby was discharged home with no postoperative complications. Hence, we suggest that pulmonary artery sling should be suspected in any neonate with respiratory distress and unilateral lung field opacification. The fact that there are only very few reports on this disease raises a need to establish and implement well-defined guidelines and criteria for early diagnosis and management of pulmonary artery sling among newborns.