evaluation of metabolic and biochemical abnormalities in pediatric population with nephrocalcinosis in southwestern iran

This retrospective study aimed to evaluate the metabolic and biochemical abnormalities in children with nephrocalcinosis to identify its important risk factors and better understand the disease pathophysiology. data were collected from the medical records of 163 children diagnosed with nephrocalcinosis. their clinical and laboratory characteristics at admission were recorded, and a 24-hour urinalysis was performed to measure parameters such as calcium, oxalate, citrate, uric acid, magnesium, and cystine. family history of kidney stones and parental consanguinity were present in 58.8% and 58.2% of patients, respectively. the most common underlying conditions were hyperparathyroidism (24%), distal renal tubular acidosis (16.6%), and medullary sponge kidney (12.9%). the main abnormalities included hypocitraturia (65.2%), hypercalciuria (51.9%), hypomagnesuria (44.6%), hyperoxaluria (39.1%), hyperuricosuria (31.5%), vitamin d deficiency (30.06%), and metabolic acidosis (27%). patients with kidney stones and failure to thrive had higher rates of hypercalciuria. metabolic acidosis was more common in those with parental consanguinity and vitamin d deficiency. renal failure at final follow-up was more evident in older patients, those with parental consanguinity, hypokalemia, acidosis, and hyperparathyroidism. end-stage renal disease was more frequent in patients with consanguineous parentage, hyperparathyroidism, hypokalemia, and acidosis. parental consanguinity, family history of kidney stones, and urinary metabolic disorders are important risk factors for pediatric nephrocalcinosis. this highlights the need for genetic counseling, screening, and monitoring of biochemical abnormalities. early diagnosis and timely treatment are crucial to maintain glomerular function and prevent kidney failure.