Rationale & Objective Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a
rare monogenic disorder caused by SLC34A3 pathogenic variants. HHRH is characterized
by kidney phosphate wasting, hypophosphatemia, hypercalciuria, an elevated 1, 25-
dihydroxyvitamin D level, nephrocalcinosis, and urinary stone disease. Previously, we
reported a 100% prevalence of kidney cysts in the related CYP24A1 deficiency. Thus, in the
current study, we characterized cysts' presence in HHRH, another monogenic cause of …

Abstract Rationale & Objective: Hereditary Hypophosphatemic Rickets with Hypercalciuria
(HHRH) is a rare monogenic disorder caused by SLC34A3 pathogenic variants,
characterized by kidney phosphate wasting, hypophosphatemia, hypercalciuria, elevated 1,
25-dihydroxyvitamin D concentration, nephrocalcinosis, and urinary stone disease.
Previously, we reported a 100% prevalence of kidney cysts in the related CYP24A1
deficiency. Thus, in the current study, we characterized cyst presence in HHRH, another …