Novel Variant of SLC34A3 in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria

What ;s already known on th;s top;c?HHRH %s caused by loss-of-funct%on var%ants of the sod%um-phosphate co-transporter NPT2c and %s an FGF23-%ndependent d%sorder that causes r%ckets.Phosphate supplementat%on alone %s standard of care.Because 1,25(OH)2D %s already elevated, act%ve v%tam%n D analogs are not %nd%cated.The best approach for manag%ng hypercalc%ur%a has not yet been establ%shed. What th;s study adds?We report a novel var%ant of SLC34A3 gene %n compound heterozygos%ty caus%ng HHRH %n a Braz%l%an g%rl.We d%scuss treatment strateg%es and observed that th%az%de d%uret%cs may be useful as adjunct%ve therapy to lower ur%nary calc%um excret%on.