CYP24A1 is a mitochondrial inner-membrane cytochrome P450 enzyme that exhibits
multifunctionality: it is able to hydroxylate both the C23 or the C24 side-chain carbons of 25 …

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited
cause of renal failure and has limited pharmacological treatment options. Disease …

We and others have previously shown that the presence of renal innate immune cells can
promote polycystic kidney disease (PKD) progression. In this study, we examined the …

Infantile hypercalcemia type 1 (HCINF1), previously known as idiopathic infantile
hypercalcemia, is caused by mutations in the 25-hydroxyvitamin D 24-hydroxylase gene …

Background Molecular mechanisms of kidney stone formation remain unknown in most
patients. Previous studies have shown a high heritability of nephrolithiasis, but data on the …

Rationale & Objective Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a
rare monogenic disorder caused by SLC34A3 pathogenic variants. HHRH is characterized …

Individuals with autosomal dominant polycystic kidney disease have a higher incidence of
stone formation than the general population. However, there are no cystic animal models …

Discussion What is the differential diagnosis for this patient's hypercalcemia, suppressed
PTH, and nephrolithiasis? This patient has non–parathyroid-related hypercalcemia, of which …

1 Prevalence and characteristics of monogenic disease in adult kidney stone formers Manuel A.
Anderegg1,2,#, Eric G. Olinger1,2, Page 1 1 Prevalence and characteristics of monogenic …

Abstract Rationale & Objective: Hereditary Hypophosphatemic Rickets with Hypercalciuria
(HHRH) is a rare monogenic disorder caused by SLC34A3 pathogenic variants …