Nephrolithiasis: Approach to Diagnosis and Management

Although kidney stones are less common in children than in adults, incidence in children is rising. Kidney stones may lead to significant morbidity in addition to escalating medical costs. Clinical presentation is variable. Bilateral kidney stones in a younger child should prompt work-up for primary hyperoxaluria. Metabolic abnormalities are more frequent in children and can result in frequent stone recurrence. Whole exome sequencing data shows genetic defects in about 30% of stone formers. 24 h urine collection should be conducted when patient receives his usual diet and fluid intake with normal activity. Infrared spectroscopy and X-ray diffraction are used for stone analysis. Urine studies should be delayed by 4-6 wk after stone fragmentation or treatment of any stone related complications. The goal of evaluation is to identify modifiable risk factors for which targeted therapy may be instituted. Primary indications for surgical intervention include pain, infection and obstruction. Extracorporeal shockwave lithotripsy (ESWL), ureteroscopy, and percutaneous nephrolithotomy (PCNL) are most commonly used, and selection is based on stone size, anatomy, composition and anatomy. Advances in technology have allowed a shift to minimally invasive surgeries. Comprehensive management requires multidisciplinary team. Children with kidney stones require long term follow-up with periodic assessment of stone forming activity and ascertaining stone burden. High index of suspicion should be there to diagnose diseases like primary hyperoxaluria, Dent's disease, renal tubular acidosis (RTA) etc. as these diseases have ramifications on kidney function and growth.