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Although the organ defects caused by LYK5 deficiency can not be prevented or reversed, Pretzel syndrome can nonetheless be treated by recognizing problems such as seizures, strabismus, diabetes insipidus, and heart defects, and treating these problems appropriately to optimize the health and well-being of the child.
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 ...
Neonatal diabetes is a genetic disease, caused by genetic variations that were either spontaneously acquired or inherited from one's parents. At least 30 distinct genetic variants can result in neonatal diabetes. [8] The development and treatment of neonatal diabetes will vary based on the particular genetic cause.
Water loss without electrolyte loss may occur in fever, hyperthyroidism, high blood calcium, or diabetes insipidus. [2] It is also used in the treatment of high blood potassium, diabetic ketoacidosis, and as part of parenteral nutrition. [2] It is given by injection into a vein. [2]
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 ]
Seek immediate medical attention if this is the child's first febrile seizure and take the child to the doctor once the seizure has ended to check for the cause of the fever. This is especially urgent if the child shows symptoms of stiff neck, extreme lethargy, or abundant vomiting, which may be signs of meningitis, an infection over the brain ...
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.
Untreated central diabetes insipidus patients usually exhibit polyuria, nocturia, and polydipsia as a result of the initial rise of serum sodium and osmolality. [5] Patients may also experience neurologic symptoms associated with the underlying illness, such as headaches and diplopia, depending on the exact origin of the central diabetes insipidus.
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