Essay Example on Discussion Hypocalcemia is a potentially life threatening electrolyte Derangement

Discussion Hypocalcemia is a potentially life threatening electrolyte derangement Of most concern are cardiac sequelae such as prolonged QT interval cardiomyopathy and congestive heart failure 1 Hypocalcemia can also cause seizures so hypocalcemia must be ruled out in any child with unexplained seizure2 Other neurologic neuromuscular complications include paresthesias tetany muscle cramps and muscle weakness 1 2 Skin and bone growth are affected with risk increased for dental caries atopy psoriasis delayed tooth eruption delayed growth and osteoporosis 1 Other complications may include smooth muscle dysfunction and psychological abnormalities including confusion irritability fatigue difficulty concentrating and poor memory 1 Physical exam findings on a child with hypocalcemia may include facial muscle irritability Chvostek sign elicited by tapping on the maxilla or carpopedal spasm Trousseau sign which can be seen by inflating a sphygmomanometer to 20 mmHg above the systolic blood pressure for 3 5 minutes1 2 

Table 2 These tests include intact parathyroid hormone 25 hydroxyvitamin D and 1 25 hydroxyvitamin D Based on our patient s laboratory workup revealing hypocalcemia with elevated PTH elevated phosphate and normal 1 25 hydroxyvitamin D and 25 hydroxyvitamin D levels she was given the diagnosis of pseudohypoparathyroidism Described first in 1942 by Albright et al pseudohypoparathyroidism PHP is a rare constellation of genetic diseases that involve dysfunction of the GNAS gene on chromosome 20q13 6 7 This gene encodes the alpha subunit of the stimulatory G protein Gs α attached to the PTH receptor Dysfunction of this gene prevents the cell signaling cascade that stimulates the kidney to reabsorb calcium and excrete phosphate In the absence of this signaling calcium levels remain low while PTH and phosphate levels are high PHP is inherited in an autosomal dominant manner with an imprinting pattern the paternal allele is always silenced Thus PHP is always inherited from the mother7 PHP Type 1 is divided into three subtypes 1a 1b and 1c7 8 PHP Types 1a and 1c present with stereotyped physical features and other endocrine abnormalities collectively known as Albright's hereditary osteodystrophy AHO 8 Patients with AHO have short stature hypothyroidism hypogonadism and mental retardation as well as ovulatory gustatory and auditory dysfunction They may also have round faces shortening of the metacarpals obesity and subcutaneous calcifications7 However if the mutation is passed down from the father that allele is silenced and the biochemical and mineral abnormalities seen in PHP Type 1A are not seen i e these patients will not be hypocalcemic