Childhood Rickets
The causes of rachitic and osteomalacic syndromes are numerous and include a variety of genetic errors, nutritional abnormalities, metabolic disorders, and chronic renal diseases. Quite independent of cause, the clinical…
The causes of rachitic and osteomalacic syndromes are numerous and include a variety of genetic errors, nutritional abnormalities, metabolic disorders, and chronic renal diseases. Quite independent of cause, the clinical…
In summary, the advent of totally automated immunometric I-PTH assays has led to improved accurate clinical discrimination of parathyroid disorders and has provided a tool to measure PTH levels in…
Measurement of biologically active intact PTH is essential for accurate clinical assessment. Today most laboratories use commercially available U.S. Food and Drug Administration (FDA)–approved two sites or sandwich immunometric assays…
In PHP type 1, cyclic AMP is not synthesized in response to PTH, because of a deficiency of the coupling protein Gαs. As a result, little cyclic AMP is produced…
PTH produces its effects on target cells by stimulating the synthesis of second messengers, most notably cyclic adenosine monophosphate (cyclic AMP) by the enzyme adenylate cyclase (see Plate 3-9). This…
PTH activates its target cells by increasing the activity of adenylyl cyclase, thereby increasing cellular levels of cyclic AMP. Cyclic AMP activates a cascade of proteins that produces the physiologic…
STRUCTURE, BLOOD SUPPLY, AND PHYSIOLOGY The growth plate may be divided into three anatomic components: a cartilaginous component with various histologic zones; a bony component, or metaphysis; and a fibrous…
More typically, patients with hypocalcemia may be asymptomatic or experience milder symptoms such as muscle cramps and paresthesias. The paresthesias, described as “pins and needles” sensations in the hands, feet,…
Deletions within two nonoverlapping regions of 10p can lead to a phenotype similar to DiGeorge sequence, namely, the hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome. Unlike patients with the…
Despite the hypocalcemia, soft tissue calcifications may develop in patients with hypoparathyroidism when elevated serum phosphorus levels lead to an elevated (i.e., >70 mg2/dL2) calcium × phosphorus solubility product. A…