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Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), 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.
Diagnosis is based on clinical and laboratory findings of low serum osmolality and low serum sodium. [13] Urinalysis reveals a highly concentrated urine with a high fractional excretion of sodium (high sodium urine content compared to the serum sodium). [14] A suspected diagnosis is based on a serum sodium under 138.
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 ]
What is diabetes insipidus? You’re no doubt aware of diabetes mellitus, which has type 1 and type 2 variations. It’s a disorder of water balance and control in the body, explains Christopher ...
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.
What is diabetes insipidus? You’re no doubt aware of diabetes mellitus, which has type 1 and type 2 variations. It’s a disorder of water balance and control in the body, explains Christopher ...
A fluid or water deprivation test is a medical test [1] which can be used to determine whether the patient has diabetes insipidus as opposed to other causes of polydipsia (a condition of excessive thirst that causes an excessive intake of water). The patient is required, for a prolonged period, to forgo intake of water completely, to determine ...
Seen mostly in children, multifocal unisystem LCH is characterized by fever, bone lesions and diffuse eruptions, usually on the scalp and in the ear canals. 50% of cases involve the pituitary stalk, often leading to diabetes insipidus. The triad of diabetes insipidus, exophthalmos, and lytic bone lesions is known as the Hand-Schüller-Christian ...