Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate
metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase …

PTH and Vitamin D are two major regulators of mineral metabolism. They play critical roles
in the maintenance of calcium and phosphate homeostasis as well as the development and …

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of
autosomal recessive inheritance that was first described in a large consanguineous Bedouin …

Background Epidemiologic studies suggest that genetic factors confer a predisposition to the
formation of renal calcium stones or bone demineralization. Low serum phosphate …

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH; OMIM: 241530) is a rare
autosomal recessive disorder with an estimated prevalence of 1: 250,000 that was originally …

Members of the SLC34 gene family of solute carriers encode for three Na+-dependent
phosphate (P i) cotransporter proteins, two of which (NaPi-IIa/SLC34A1 and NaPi …

Hypophosphatemia can lead to muscle weakness and respiratory and heart failure, but the
mechanism is unknown. To address this question, we noninvasively assessed rates of …

▪ Abstract The type IIa Na/phosphate (Pi) cotransporter (Npt2a) is expressed in the brush
border membrane (BBM) of renal proximal tubular cells where the bulk of filtered Pi is …

Nephrolithiasis, with a lifetime incidence of up to 13%(1–9), results in significant morbidity as
well as substantial economic costs, not only directly from medical treatment but also …

Idiopathic calcium nephrolithiasis is a multifactorial disease with a pathogenesis that
involves a complex interaction of environmental and individual factors. This review …