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Diagnosis is often based on urine tests, blood tests and the fluid deprivation test. [1] Despite the name, diabetes insipidus is unrelated to diabetes mellitus and the conditions have a distinct mechanism, though both can result in the production of large amounts of urine. [1] Treatment involves drinking sufficient fluids to prevent dehydration ...
Wolfram Syndrome Type 2 (WFS2) is a subtype of Wolfram Syndrome caused by a mutation in the CDGSH iron-sulfur domain-containing protein 2 gene ( CISD2 gene). CISD2 is a protein coding gene that is found on the endoplasmic reticulum (ER) and outer mitochondrial membrane. WFS2 is mainly localized in the ER, but studies have also shown that it can ...
Polyuria, nocturia, and polydipsia. Central diabetes insipidus, recently renamed arginine vasopressin deficiency (AVP-D), [ 1] is a form of diabetes insipidus that is due to a lack of vasopressin (ADH) production in the brain. Vasopressin acts to increase the volume of blood (intravascularly), and decrease the volume of urine produced.
Morgagni–Stewart–Morel syndrome is inherited in an X-linked recessive manner (or autosomal dominant). [ 1] Morgagni–Stewart–Morel syndrome is a condition with a wide range of associated endocrine problems including: diabetes mellitus, diabetes insipidus, and hyperparathyroidism. [ 2] Other signs and symptoms include headaches, vertigo ...
Nephrogenic diabetes insipidus, recently renamed arginine vasopressin resistance (AVP-R) and previously known as renal diabetes insipidus, is a form of diabetes insipidus primarily due to pathology of the kidney. This is in contrast to central or neurogenic diabetes insipidus, which is caused by insufficient levels of vasopressin (also called ...
MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias [1] a paraplegia known to increase stiffness spasticity in the lower limbs. [2] This syndrome also has two other names, CRASH [3] syndrome and Gareis-Mason syndrome.
ROHHAD. Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation ( ROHHAD) is a rare condition whose etiology is currently unknown. [ 1] ROHHAD mainly affects the endocrine system and autonomic nervous system, but patients can exhibit a variety of signs. Patients present with both alveolar ...
As a diagnosis of exclusion, a diagnosis of primary polydipsia may be the result of elimination of the possibility of diseases causing similar signs and symptoms, such as diabetes insipidus. [12] Diagnosis may be complicated by the fact that chronic and extreme compulsive drinking may impair the response of the kidneys to vasopressin, thus ...