Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four organic small molecules belonging to the chemical groups of trimethylamines (betaine and glycerophosphorylcholine) and polyols (sorbitol and inositol) have been shown to act as organic osmolytes in the kidney. When measured along the corticopapillary axis, each exhibits a specific distribution pattern, indicating a specific localization and function. Studying their behaviour under vasopressin treatment in diabetes insipidus rats and after insulin treatment in diabetes mellitus rats confirmed this conclusion: AVP led to a steady increase of sorbitol and glycerophosphorylcholine over 7 days with no effect on inositol levels. Insulin treatment of diabetic rats, on the other hand, decreased sorbitol with a concomitant increase in glycerophosphorylcholine, again without any effect on tubular inositol concentrations. From this and in vitro studies it can be concluded that both hormones act by indirect mechanisms which alter interstitial osmolality. This in turn leads to a change in tubular osmolyte synthesis, uptake and release rates. In addition, the concentrations of the respective precursors glucose and choline influence the formation rates of sorbitol and betaine.
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PMID:Regulation and localization of organic osmolytes in mammalian kidney. 228 May 74

We report three Libyan children from one family with the syndrome diabetes insipidus, diabetes mellitus, optic atrophy and deafness, (DIDMOAD). Two children presented with diabetic ketoacidosis while one was discovered during screening of the family. All three children are alive, two of them on desmopressin (DDAVP) and insulin therapy and one on DDAVP only.
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PMID:DIDMOAD syndrome in a Libyan family. 242 93

We report the case of a 54 year old male with diabetes insipidus and diabetes mellitus who developed, twenty years later, signs of hypogonadotropic hypogonadism, secondary adrenal insufficiency and primary hypothyroidism with positive serum antithyroglobulin antibodies. At that time, an osteolytic lesion on the left temporal bone was localized by radiologic studies. A bone biopsy confirmed the diagnosis of eosinophilic granuloma. Laboratory tests also showed anemia, hypergammaglobulinemia and accelerated eritrosedimentation rate which constitute atypical manifestations of this rare disease in adults. The probable etiopathogenic mechanisms are discussed: while some authors have described an autoimmune primary defect, others have suggested a primary viral infection as the cause of Hand-Schuller-Christian disease. The association of direct and indirect evidence of immunologic alterations in our patient is suggestive of an autoimmune origin.
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PMID:[Infrequent clinical manifestations in a patient with eosinophilic granuloma]. 248 46

Aldose reductase (AR), an enzyme that catalyzes the conversion of glucose to sorbitol, has been implicated in the pathogenesis of many of the complications of diabetes mellitus, but its normal physiological function in various tissues remains uncertain. It has been suggested that in the kidney, sorbitol production may be an important cellular protection against medullary intersitital hypertonicity. Using in situ and Northern hybridization analyses, we found that at the time of birth, AR mRNA expression in the kidney was very low and seen only in the papilla. By 12 days of age, at about the time a corticopapillary osmotic gradient and the capacity for urinary concentration have developed, a striking increase in renal AR mRNA levels was seen. It was confined to the inner medulla and was characterized by a dramatic gradient of expression paralleling the corticopapillary osmotic gradient. Levels of expression were somewhat lower in adults, but showed the same inner medullary boundary and gradient. Under these hybridization and exposure conditions, no AR transcripts were detected in the outer medulla or cortex. Homozygous Brattleboro rats with congenital diabetes insipidus have relatively dilute corticopapillary osmotic gradients, and their level of medullary AR mRNA was significantly lower than that of controls. Conversely, normal rats made hyperosmotic and, hence, antidiuretic by salt loading showed a large increase in medullary AR mRNA. These changes in renal medullary AR gene expression in correlation with changes in medullary tonicity support the hypothesis that renal AR plays a role in cellular adaption to osmotic stress and suggest that local medullary osmolarity may regulate the level of AR gene expression.
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PMID:Developmental and physiological regulation of aldose reductase mRNA expression in renal medulla. 251 49

Two children with the DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) developed a megaloblastic and sideroblastic anemia, neutropenia, and borderline thrombocytopenia. Plasma thiamine concentration was low in one patient and normal in the other; in both children, thiamine pyrophosphate in erythrocytes and thiamine pyrophosphokinase activity were lower than the lowest values observed in control subjects. A month after institution of treatment with thiamine, the hematologic findings had returned to normal and the insulin requirements had decreased. Withdrawal of thiamine repeatedly induced relapse of the anemia and an increase in insulin requirements. We propose that an inherited abnormality of thiamine metabolism is responsible for the multisystem degenerative disorder known as DIDMOAD syndrome.
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PMID:Thiamine-responsive anemia in DIDMOAD syndrome. 280 20

Wolfram, or DIDMOAD, syndrome is a genetic disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. We studied a family in which only diabetes mellitus and primary optic atrophy were present in three female siblings. Two of these patients, fraternal twins, were subjected to a complete electrophysiologic examination. The possibility of an incomplete clinical expression of Wolfram syndrome, hypotheses of its genetic transmission, and diagnostic problems are discussed.
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PMID:Incomplete Wolfram syndrome: clinical and electrophysiologic study of two familial cases. 272 80

We present a new clinical case of a 25-year-old man with Wolfram's syndrome. Partial central diabetes insipidus was found to cause polyuria, polydipsia and enuresis. The patient had diabetes mellitus for the last 18 years, controlled with diet and/or chlorpropamide during 10 years and showed no typical complications of the disease. The patient was also shown to have a dilated urinary tract and perceptive hypoacusis for high frequencies. The fifth classical component of this syndrome, primary optic atrophy, was not found. Based on the report of this case, Wolfram's syndrome is briefly described.
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PMID:[Description of Wolfram syndrome (DIDMOAD) on the basis of a new case]. 278 Oct 75

A 29-year-old female with diabetes insipidus, deafness, a visual disorder and an abnormal glucose tolerance test, who gave birth to a healthy baby is described. Her male sibling is probably also similarly affected. These patients may represent previously unreported variants of the "DIDMOAD" (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. This is the first reported case of childbirth in an affected patient.
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PMID:A variant of the "DIDMOAD" syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). 308 Dec 88

We describe five patients with Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). Three of the patients appear to have had very gradual onset of diabetes mellitus at an early age yet all patients when tested for C-peptide response to glucagon were severely deficient. All patients are registered blind from primary optic atrophy, two have severe hearing difficulties and three high tone sensorineural hearing loss on audiometry. Four patients have cranial diabetes insipidus which in two cases is partial and of gradual onset and was attributed to poor control of the diabetes mellitus. In one case treatment of the insipidus relieved enuresis. All five patients have evidence of dilatation of the urinary tract and one patient is managed in the long-term by self-catheterisation which has resulted in one episode of bacteraemia. One patient has marked testicular atrophy and investigation reveals this to be due to primary hypogonadism and not to hypothalamic-pituitary dysfunction. One female patient had her menarche delayed until the age of 19 years but has subsequently had the only successful pregnancy in a patient with this syndrome of which we are aware.
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PMID:Wolfram (DIDMOAD) syndrome: a complex long-term problem in management. 308 28

A 30 year old man with DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) syndrome associated with myocardial disease is reported. Echocardiographic study revealed a marked symmetric left ventricular hypertrophy. Histology of the endomyocardial biopsy specimen from the right ventricle showed severe glycogen deposition in the myocytes. This case may indicate that DIDMOAD syndrome is a hereditary systemic disease affecting multiple organs, including the myocardium.
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PMID:DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) syndrome associated with myocardial disease. 317 80


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