Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors

Nephrocalcinosis (NC) and nephrolithiasis (NL) are described in hypophosphatemic rickets, but data regarding their prevalence rates and the presence of metabolic risk factors in X-linked hypophosphatemic rickets (XLH) are scarce. To determine the prevalence rates of NC and NL and their risk factors in patients with XLH with confirmed PHEX mutations. Renal ultrasonography (US) and CT were performed in 16 children and 23 adults. The images were evaluated by two blinded radiologists specializing in US and two specializing in CT. Confirmation of NC was determined with a positive result on both US and CT, whereas the diagnosis of NL was confirmed by CT alone. The presence of hypercalciuria, hypocitraturia, and hyperoxaluria was determined from 24-hour urinary samples from each patient. The glomerular filtration rate was estimated. NC was identified in 15 patients (38.4%), and stratification by age group showed a higher prevalence of NC in children than in adults (56.2% vs 26.1%). CT identified NL in four adults (10.2%). Patients in the pediatric group required intensive use of phosphate, started treatment earlier, and presented greater phosphaturia than those in the adult group (P < 0.01). In addition to hyperphosphaturia, which was present in all patients with XLH, hypocitraturia was the most common metabolic factor (28.2%), whereas hypercalciuria occurred in two patients (5.1%). None had hyperoxaluria. Most patients had normal renal function. NC was more prevalent than NL. The main metabolic factor was hyperphosphaturia, and intensive phosphate treatment appears to be a worsening factor for kidney calcification.