The pathophysiology and genetics of congenital lipoid adrenal hyperplasia

Article Abstract:

Patients with congenital lipoid adrenal hyperplasia, an enzyme defect resulting in adrenal gland overgrowth, may have a number of genetic mutations in the steroidogenic acute regulatory protein. Researchers found 15 different mutations in 14 of 15 patients, explaining at least partly the variations often seen in congenital lipoid adrenal hyperplasia. One patient had no evidence of any genetic defect. Cellular damage from accumulated cholesterol esters continue to contribute to a loss of steroidogenesis in addition to the initial genetic defect of steroidogenesis.

Gene mutations, Gene mutation, Genetic aspects, Identification and classification, Lipid metabolism disorders, Lipidosis, Adrenogenital syndrome, Congenital adrenal hyperplasia

---

Nephrogenic syndrome of inappropriate antidiuresis

Article Abstract:

Two unrelated male infants whose clinical presentation was consistent with the presence of chronic syndrome of inappropriate antidiuretic hormone secretion (SIADH) and had undetectable arginine vasopressin (AVP) levels is described. The results indicate that the novel mutations cause constitutive activation of the receptor and are likely cause of the patients' SIADH-like clinical picture.

United Kingdom, Science & research, Research, Diagnosis, Mutation (Biology), Mutation, Vasopressin, Vasopressins

---

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

Article Abstract:

A deficiency of tenascin-X can cause some types of Ehlers-Danlos syndrome. Tenascins are connective tissue proteins found in skin, tendons, muscle, and blood vessels. Ehlers-Danlos syndrome is a connective tissue disease.

Causes of, Ehlers-Danlos syndrome

Similar abstracts:

• Abstracts: The pathophysiology of diabetic complications: how much does the glucose hypothesis explain? Treating type 2 diabetes with inhaled insulin
• Abstracts: Treatment and prevention of head lice and scabies. When winter makes you sick. Scabies
• Abstracts: Preserving the physician-patient relationship in the era of managed care. Influence of Age on Medicare Expenditures and Medical Care in the Last Year of Life
• Abstracts: Selected complementary methods and nursing care of the hypertensive client. Issues and trends in care of the hypertensive client
• Abstracts: A 62-year-old woman with an infected right foot and aneurysmal dilatation of a femoral artery. A 22-year-old man with hyperthyroidism, fever, abdominal pain, and arthalgia

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.