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Wolfram syndrome. Wolfram syndrome, also called DIDMOAD (d iabetes i nsipidus, d iabetes m ellitus, o ptic a trophy, and d eafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration.
Diabetes insipidus (DI) is a condition characterized by large amounts of dilute urine and increased thirst. [1] The amount of urine produced can be nearly 20 liters per day. [1] Reduction of fluid has little effect on the concentration of the urine. [1] Complications may include dehydration or seizures.
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. Therefore, a lack of it causes increased ...
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 ...
Symptoms of holoprosencephaly range from mild (no facial/organ defects, anosmia, or only a single central incisor) to moderate to severe . The symptoms are dependent upon the classification type. [3] There are four classifications of holoprosencephaly as well as a mild "microform".
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 ...
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