due to Dent's disease: A case report and review of literature.
The molecular background to hypophosphatemic rickets
Vitamin D dependent rickets or hypophosphatemic rickets
must be considered in the patients who have signs and symptoms of rickets in spite of regular vitamin D supplementation.
Other endocrinopathies were investigated including thyroid function test for those who had hyperthyroidism, leutenizing hormone (LH), follicle stimulating hormone (FSH), and estradiol for those who had precocious puberty and appropriate work-up for hypophosphatemia in patients who presented with hypophosphatemic rickets
Some cases of rickets, such as familial hypophosphatemic rickets
, have a genetic basis.
Vitamin D-resistant rickets, or familial hypophosphatemic rickets
, refers to a clinical presentation of rickets that is caused by a hereditary renal wasting of phosphorus at the proximal tubule level.
Forms of endocrine hyperfunction reported in association with MAS include precocious puberty, hyperthyroidism, hypercortisolism, hypersomatotropism, and hypophosphatemic rickets
5) Often the clinical presentation mimics X-linked hypophosphatemia (XLH) or hereditary autosomal dominant hypophosphatemic rickets
The company will use the proceeds from this financing to advance its lead enzyme replacement therapy for the treatment of Generalized Arterial Calcification of Infancy and Autosomal Recessive Hypophosphatemic Rickets
Type 2 (ARHR2) into the clinic.
It is especially valuable in patients with chronic kidney disease, primary hyperparathyroidism, sarcoidosis, oncogenic osteomalacia, vitamin D-resistant rickets, pseudo-vitamin D deficiency rickets, and hypophosphatemic rickets