Biomaterial Database

[Difference in the therapeutic response to active vitamin D3 between PTH-deficient hypoparathyroidism and pseudohypoparathyroidism]. 2007

Daisuke Inoue

Teikyo University Chiba Medical Center, Third Department of Medicine, Japan.

Pseudohypoparathyroidim (PHP) type I is a disorder characterized by deficient Gsalpha activity at the renal proximal tubules causing resistance to PTH. Physiological calcium reabsorption at the distal tubules depends on an ion channel called TRPV5, expression and function of which is regulated by coordinated actions of PTH and active vitamin D. In PHP patients, it has been demonstrated that, in contrast to proximal tubules, distal tubules do respond to PTH because the GNAS gene coding for Gsalphais not imprinted at the distal tubular cells responsible for calcium reabsorption. Therefore, in order to maintain the same serum calcium levels, urinary calcium excretion as well as the required dosage of active vitamin D is lower in PHP than in PTH-deficient hypoparathyroidism.

UI	MeSH Term	Description	Entries
D007011	Hypoparathyroidism	A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone.	Idiopathic Hypoparathyroidism,Hypoparathyroidism, Idiopathic
D007686	Kidney Tubules, Distal	The portion of renal tubule that begins from the enlarged segment of the ascending limb of the LOOP OF HENLE. It reenters the KIDNEY CORTEX and forms the convoluted segments of the distal tubule.	Distal Kidney Tubule,Distal Renal Tubule,Distal Kidney Tubules,Distal Renal Tubules,Kidney Tubule, Distal,Renal Tubule, Distal,Renal Tubules, Distal,Tubule, Distal Kidney,Tubule, Distal Renal,Tubules, Distal Kidney,Tubules, Distal Renal
D010281	Parathyroid Hormone	A polypeptide hormone (84 amino acid residues) secreted by the PARATHYROID GLANDS which performs the essential role of maintaining intracellular CALCIUM levels in the body. Parathyroid hormone increases intracellular calcium by promoting the release of CALCIUM from BONE, increases the intestinal absorption of calcium, increases the renal tubular reabsorption of calcium, and increases the renal excretion of phosphates.	Natpara,PTH (1-84),PTH(1-34),Parathormone,Parathyrin,Parathyroid Hormone (1-34),Parathyroid Hormone (1-84),Parathyroid Hormone Peptide (1-34),Hormone, Parathyroid
D011547	Pseudohypoparathyroidism	A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.	Albright Hereditary Osteodystrophy,PHPIa,Albright Hereditary Osteodystrophy with Multiple Hormone Resistance,PHD Ib,PHD1b,PHP Ia,Pseudohypoparathyroidism Type 1B,Pseudohypoparathyroidism, Type Ia,Pseudohypoparathyroidism, Type Ib,Hereditary Osteodystrophy, Albright,Osteodystrophy, Albright Hereditary,Pseudohypoparathyroidism Type 1Bs,Pseudohypoparathyroidisms,Pseudohypoparathyroidisms, Type Ia,Pseudohypoparathyroidisms, Type Ib,Type Ia Pseudohypoparathyroidism,Type Ia Pseudohypoparathyroidisms,Type Ib Pseudohypoparathyroidism,Type Ib Pseudohypoparathyroidisms
D002118	Calcium	A basic element found in nearly all tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes.	Coagulation Factor IV,Factor IV,Blood Coagulation Factor IV,Calcium-40,Calcium 40,Factor IV, Coagulation
D002864	Chromogranins	A group of acidic proteins that are major components of SECRETORY GRANULES in the endocrine and neuroendocrine cells. They play important roles in the aggregation, packaging, sorting, and processing of secretory protein prior to secretion. They are cleaved to release biologically active peptides. There are various types of granins, usually classified by their sources.	Chromogranin,Granin,Secretogranin,Secretogranins,Granins
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006887	Hydroxycholecalciferols	Hydroxy analogs of vitamin D 3; (CHOLECALCIFEROL); including CALCIFEDIOL; CALCITRIOL; and 24,25-DIHYDROXYVITAMIN D 3.	Hydroxyvitamins D,Hydroxycholecalciferol
D001693	Biological Transport, Active	The movement of materials across cell membranes and epithelial layers against an electrochemical gradient, requiring the expenditure of metabolic energy.	Active Transport,Uphill Transport,Active Biological Transport,Biologic Transport, Active,Transport, Active Biological,Active Biologic Transport,Transport, Active,Transport, Active Biologic,Transport, Uphill
D050916	TRPV Cation Channels	A subgroup of TRP cation channels named after the vanilloid receptor. They are very sensitive to TEMPERATURE; hot spicy food, and CAPSAICIN. They contain a TRP domain (a five-turn amphipathic helix with an invariant TRYPTOPHAN) and ANKYRIN repeats. Selectivity for CALCIUM over SODIUM ranges from 3 to 100 fold.	Capsaicin Receptor,Vanilloid Receptor,Capsaicin Receptors,Vanilloid Receptors,Cation Channels, TRPV,Channels, TRPV Cation,Receptor, Capsaicin,Receptor, Vanilloid,Receptors, Capsaicin,Receptors, Vanilloid