Fatal Lung-Kidney Crosstalk in Bronchopulmonary Dysplasia: A Case of Refractory Weaning Unmasking Confirmed Williams Syndrome and Severe Obstructive Nephrolithiasis

Abstrak

Background: Bronchopulmonary dysplasia (BPD) is the most common, serious morbidity of prematurity, frequently complicated by a protracted and difficult weaning process from respiratory support. Refractory weaning failure, defined as a lack of response to conventional BPD therapies, should trigger a broad investigation for non-pulmonary, systemic confounders. Case presentation: We present the case of a 1,480-gram, 35+4 weeks' gestation female infant with severe hyaline membrane disease who subsequently developed moderate-to-severe BPD. The infant exhibited refractory respiratory failure, failing multiple extubation attempts, and showing no clinical improvement despite standard BPD management, including a 15-day course of furosemide. On day 58, investigation for worsening cholestasis incidentally revealed a 1.3 cm obstructive right renal calculus with severe hydronephrosis and acute pyelonephritis. This finding, coupled with evolving "elfin" facies, prompted a systemic workup. Key confirmatory data included severe hypercalcemia (13.4 mg/dL) and an echocardiogram revealing supravalvular aortic stenosis (SVAS). These findings, along with a characteristic phenotype, established a clinical diagnosis of Williams Syndrome. The infant rapidly developed urosepsis and anuric acute kidney injury (AKI), culminating in irreversible respiratory failure. Conclusion: This case provides a definitive clinico-pathological correlation for a rare and fatal triad. The severe nephrolithiasis is explained by a "two-hit" mechanism: baseline idiopathic hypercalcemia from Williams Syndrome, massively amplified by iatrogenic hypercalciuria from furosemide therapy. The patient's demise was a direct consequence of lung-kidney crosstalk, wherein the obstructive urosepsis and AKI induced a fatal inflammatory and hydrostatic pulmonary edema that overwhelmed the infant's BPD-compromised lungs.