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

ABSTRACT:

Context

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.

Objective

To determine the prevalence rates of NC and NL and their risk factors in patients with XLH with confirmed PHEX mutations.

Methods

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 f

SUBMITTER: Colares Neto GP 

PROVIDER: S-EPMC6497922 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature