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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.
Differential diagnosis: Isolated diabetes mellitus/insipidus [2] [3] Prevention: None: Frequency: Rare, very few cases have been described in medical literature: Deaths: Some of the deaths are associated with the suicidal thoughts that a small number of people with the disorder have as a comorbidity to depression (rare symptom of Wolfram-like ...
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 ...
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 ...
Neoplastic conditions - Central diabetes insipidus can result from primary or secondary brain malignancies that affect the hypothalamic-pituitary area; secondary tumors are typically caused by metastasis from lung or breast cancer, leukemia, or lymphoma. [14] Additionally, central diabetes insipidus is seen in myelodysplastic syndrome. [15]
A fasting blood sugar level of ≥ 7.0 mmol / L (126 mg/dL) is used in the general diagnosis of diabetes. [17] There are no clear guidelines for the diagnosis of LADA, but the criteria often used are that the patient should develop the disease in adulthood, not need insulin treatment for the first 6 months after diagnosis and have autoantibodies in the blood.
Differential diagnosis includes nephrogenic diabetes insipidus, neurogenic/central diabetes insipidus and psychogenic polydipsia. They may be differentiated by using the water deprivation test. Recently, lab assays for antidiuretic hormone are available and can aid in diagnosis.
MODY accounts for at least 1-5% of all diagnoses of diabetes mellitus, though 50-90% of cases are estimated to be misdiagnosed as type 1, or type 2 diabetes [4].Estimated prevalence rates indicate 1 per 10,000 in adults, and 1 per 23,000 in children [5]. 50% of first-degree relatives will inherit the same mutation, giving them a greater than 95% lifetime risk of developing MODY themselves. [6]