Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirty-four members of a single family were studied and 9 of them were found to be suffering from hyperthyroidism associated with diffuse goitre. Exophthalmos was absent and transmission seemed to be independent of HLA type. Four of the 9 were studied prior to treatment but in all cases serum immunoglobulin levels were normal, antithyroglobulin and antimicrosomal antibodies absent, thyroid stimulating antibodies negative and the lymphocyte transformation responses to mitogens not different from those of controls. The results of testing the euthyroid family members were similarly negative, except in the case of a woman with type I diabetes mellitus who showed a low titre of antimicrosomal antibody. Seven of the patients underwent subtotal thyroidectomy. Lymphocytic infiltration of the excised portion was rarely present. Four of the glands were subjected to immunofluorescent and electron microscopy but neither immunosecreting cells nor immune complex deposits were found. These results point to the existence of a non-autoimmune form of goitrous hyperthyroidism, different from Graves' disease.
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PMID:Familial hyperthyroidism without evidence of autoimmunity. 712 78

Hashimoto's Thyroiditis (HT) is the most common cause of thyroid diseases in children and adolescents and it is also the most common cause of acquired hypothyroidism with or without goiter. The linkage between HT and some HLA genes has been reported and a genetic predisposition to thyroid autoimmunity is suggested by observations in twins. There is no direct evidence that infections cause HT in humans, while iodine and iodine containing drugs can precipitate HT in susceptible populations. There is an infiltration of lymphocytes and plasma cells between the follicles followed by their atrophy. The clinical course is variable and spontaneous remission may occur in adolescence. Goiter, menstrual disorders, short stature, constipation, nervousness and exophthalmos have been reported as the most recurrent clinical features of HT. Nevertheless we studied 33 patients with HT, 22 girls and 11 boys aged 4.9-19 years and most of them were euthyroid clinically. Hashimoto thyroiditis is often associated with type 1 diabetes and other autoimmune disorders such as coeliac disease, type 2 and type 3 polyglandular autoimmune disorders. Girls with Turner syndrome may develop HT. Patients with HT have positive antibodies to thyroglobulin and/or to thyroperoxidase in blood. Thyroid function could be normal or abnormal (overt hypothyroidism, subclinical hypothyroidism and hyperthyroidism). Abnormal ultrasound patterns may be present in patients with HT disease as diffuse hypoechogenicity and pseudonodules. L-thyroxine therapy is indicated in HT with hypothyroidism, but periodic re-evaluations are required because HT could be a self-limited disorder in some cases.
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PMID:Hashimoto's Thyroiditis. 1644 60

A novel pigmented dermatosis was observed in four unrelated boys, three of whom had insulin-dependent diabetes. Three patients were the offspring of consanguineous parents. All four boys had pigmented hypertrichotic patches or induration on the upper inner thighs, with variable involvement of the genitalia, trunk, and limbs. Two boys had episcleritis and orbital proptosis with similar facies and musculoskeletal abnormalities including clinodactyly, flat feet, and short stature. One child had paraaortic and inguinal lymphadenopathy and three patients had an enlarged liver and spleen. A large, swollen pancreas was observed on ultrasound imaging in one patient with insulin dependent diabetes who also had echocardiographic evidence of pericardial inflammation. Three boys had elevated laboratory markers of inflammation. Biopsy specimens from the skin and orbit showed a chronic inflammatory cell infiltrate composed of polyclonal lymphocytes, histiocytes, and plasma cells; fibrosis was observed in two patients, one of whom had previously received radiation therapy to the orbit. Two boys responded to treatment with subcutaneous interferon-alpha, combined with a short course of oral prednisone in the child without diabetes. We believe these inflammatory pigmented skin lesions represent a unique dermatosis associated with diabetes mellitus and systemic disease. The pathogenesis is unknown. The presence of consanguinity in three of four families, and similar dysmorphic features in two boys, suggest a genetic disorder, possibly with autosomal recessive inheritance.
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PMID:Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder? 1746 1

Thyroid-associated ophthalmopathy (TAO) is an inflammatory process associated with autoimmune thyroid diseases (AITD), most commonly Graves disease. It is clinically present in up to one half of patients suffering with AITD and 3-5 % of patients suffer from intense pain and inflammation with double vision or even loss of vision. Because diabetes mellitus type 1 and AITD have similar pathogenesis and shared genetic background it is not surprising that up to 30% of patients with type 1 diabetes develop AITD during long term follow-up. It is important to consider the activity and severity ofTAO separately. Treatment is effective at the beginning of disease in the high activity phase. Glucocorticoids represent a milestone in the treatment of TAO and are necessary in diabetic patients as well. According to the latest experience the most effective and best tolerated regimen is iv glucocorticoid administration of methylprednisolone at weekly intervals up to a cumulative dose of 4.5 g. Orbital radiotherapy is considered to be contraindicated in patients with diabetes for fear of worsening retinopathy. Surgical orbital decompression is indicated in severe proptosis and progressive neuropathy in the acute stage. Rehabilitative (extraocular muscle or eyelid) surgery is often needed after treatment and inactivation of eye disease.
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PMID:[Thyroid orbitopathy and diabetes]. 1764 37

A 28-year-old man presented with multiple flexion contractures of hands and feet, deafness, diabetes mellitus and obstructive nephropathy because of bilateral ureterovesicular stricture. Other prominent clinical findings were short stature, bilateral proptosis, multiple freckles and sacralisation of LS. In order to investigate the role of mitochondrial mutations in various clinical manifestations observed in this patient, we performed mutation screening of 1.6 kb mtDNA around the tRNA (Leu(UUR)) part of 16SrRNA and the ND1 gene. No mutation was present at position 3243 which is associated with diabetes mellitus and deafness. A new point mutation (A/G) at position 4093 of the ND1 gene was found. In conclusion, we found a novel mitochondrial mutation in a patient with diabetes and deafness. This mutation has not been reported before and is the first mutation described in the ND1 gene which is related to insulin dependent diabetes mellitus and deafness and could be specific to the Iranian population. All other unusual clinical findings in this patient can be attributed to the presence of this new mutation.
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PMID:A new mitochondrial mutation in a patient with diabetes mellitus, deafness, hydronephrosis and joint contractures. 1918 93