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

The Wolfram, or DIDMOAD, syndrome is a rare congenital disease that is associated with diabetes insipidus, insulin dependent diabetes mellitus of an early onset, bilateral optic atrophy and deafness. Urological disorders are usually present as well. We have studied nine patients belonging to five different families. All of the family members were HLA typed (including DR), and islet cell as well as antinuclear antibody determinations were carried out. Although individuals with insulin dependent diabetes mellitus are very prone to have either HLA-DR3 or -DR4 antigens, none of our patients had DR3 antigens and only one was DR4 positive. On the other hand, three of our patients were typed as HLA-DR2 positive. This antigen is uncommon in classical insulin dependent diabetes. In one of the families, the affected siblings did not share the same HLA haplotype. Islet cell and antinuclear antibodies were not found in any of the cases and six of the patients had a small, but significant, insulin secretory reserve. On the basis of some of the clinical features it was also possible to further distinguish between the DIDMOAD syndrome and the classical insulin dependent diabetes mellitus. The differences encountered between classical and DIDMOAD insulin dependent diabetes mellitus--the presence/absence of HLA linkage, HLA-DR2, -DR3 and -DR4 associations, islet cell or antinuclear antibodies, the tendency to ketosis and diabetic retinopathy--indicate that their etiopathogenies are triggered by distinct mechanisms.
 ...
PMID:Contrasting features of insulin dependent diabetes mellitus associated with neuroectodermal defects and classical insulin dependent diabetes mellitus. 329 50

The Wolfram, or DIDMOAD, syndrome consists of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Diabetes mellitus usually occurs as the first manifestation of this syndrome, followed by the development of optic atrophy, neurosensory hearing loss, and finally diabetes insipidus. We report on four cases with a review of the literature. The diabetes mellitus occurring in these patients is clinically indistinguishable from classic type I diabetes mellitus. Two of three patients continue to have measurable C-peptide secretion 8 yr after onset of diabetes. Two of three patients with Wolfram syndrome had the HLA-DR2 antigen. Combining our cases with those described in the literature, 7 of 11 patients have the HLA-DR2 antigen. The preponderance of the HLA-DR2 antigen in the Wolfram syndrome is different from classic type I diabetes. This is further evidence of the genetic heterogeneity of diabetes mellitus. Although the Wolfram syndrome is rare, it should be considered in diabetic patients with unexplained optic atrophy and hearing loss or with polyuria and polydipsia in the presence of adequate blood sugar control.
 ...
PMID:Wolfram syndrome: report of four new cases and a review of literature. 346 31

Four cases (belonging to two different families) of Wolfram's syndrome (WS), a rare congenital disease characterized in its complete form by insulin-dependent diabetes mellitus, optic atrophy, diabetes insipidus, deafness, and dilation of the urinary tracts are presented, and a review of the literature is included. Three of four patients are characterized by HLA-DR2 haplotype, which is rare in IDDM. The neurodegenerative nature of some symptoms and the possible pathogenesis of diabetes mellitus connected with it are discussed.
 ...
PMID:Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution. 349 Mar 63

Seven patients with a rare syndrome of diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), neurosensory deafness (D), atony of the urinary tract, and other abnormalities (Wolfram or DIDMOAD syndrome) are reported. Of the seven patients, three siblings were followed up for 10-17 years. All seven patients had diabetes mellitus and optic atrophy; six had diabetes insipidus; and in the four patients investigated there was dilatation of the urinary tract. The severity of diabetes varied, and all required insulin for control of the hyperglycaemia. In one patient the course of the disease simulated maturity onset diabetes of the young; another presented with ketoacidosis; but none had haplotypes usually associated with insulin dependent diabetes mellitus. The diabetes insipidus responded to chlorpropamide, suggesting partial antidiuretic hormone deficiency. Onset of optic atrophy and loss of vision occurred relatively late and progressed slowly, although in one patient there was a rapid deterioration in visual acuity. Deafness was mild, of late onset, and of sensorineural origin. A degenerative process affecting the central and peripheral nervous system can explain all the manifestations of the syndrome except diabetes mellitus. The pathogenesis of the diabetes mellitus remains obscure.
 ...
PMID:Association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The Wolfram or DIDMOAD syndrome. 405 39

Four clinical forms of optic neuropathy can occur in diabetes: 1. Axial neuropathy is a classical optic neuropathy. 2. Anterior ischemic optic neuropathy is an acute optic disc ischaemia and the visual loss depends on the number of fibers destroyed. 3. Acute disc swelling occurs in young patients with a type 1 diabetes. It can be asymptomatic, but can also simulate optic disc new-vessels. It seems not to be a ciliary but rather an epipapillary and peripapillary capillaropathy. 4. Optic atrophy can constitute the final out come of forms one and too. In the child, the Wolfram ou DIDMOAD syndrome associates diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
 ...
PMID:[Optic neuropathy in diabetic subjects]. 805 17

Wolfram's syndrome, also known as DIDMOAD syndrome, includes juvenile diabetes mellitus and optic atrophy variously associated with diabetes insipidus and deafness. We describe the neurological findings in 5 patients with Wolfram's syndrome. All patients had a neurological examination and were subjected electrophysiological and brain imaging including CT scan and, in one patient, MRI. There were two pairs of brothers and a sporadic case with paternal consanguinity suggesting recessive inheritance. Neurological abnormalities were found in four patients including dysarthria, seizures, anosmia, nystagmus, ataxia and changes in the electroencephalograms, electroretinograms and evoked potentials. In contrast with previous reports, four patients had abnormal brain CT scan with prominent atrophy of the brainstem. In the patient studied with NMR, severe brainstem and cerebellar atrophy was found. These neuroradiological findings are reminiscent of those described in olivopontocerebellar atrophy and are in agreement with previous pathological studies. We conclude that Wolfram's syndrome includes phenotypical manifestations of olivopontocerebellar atrophy. This reinforces the opinion that olivopontocerebellar atrophy is a nonspecific syndrome of varied causes.
 ...
PMID:[Neurologic manifestations in Wolfram's syndrome]. 833 58

Wolfram syndrome (MIM 222300) is the association of juvenile onset diabetes mellitus and optic atrophy, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). Patients present with diabetes mellitus followed by optic atrophy in the first decade, cranial diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple neurological abnormalities early in the fourth decade. Other abnormalities include primary gonadal atrophy. Death occurs prematurely, often from respiratory failure associated with brainstem atrophy. Most patients eventually develop all complications of this progressive, neurodegenerative disorder. The pathogenesis is unknown, but the prevalence is 1 in 770000 in the UK and inheritance is autosomal recessive. A Wolfram gene has recently been mapped to chromosome 4p16.1, but there is evidence for locus heterogeneity, and it is still possible that a minority of patients may harbour a mitochondrial genome deletion. The best available diagnostic criteria are juvenile onset diabetes mellitus and optic atrophy, but there is a wide differential diagnosis which includes other causes of neurodegeneration.
 ...
PMID:Wolfram (DIDMOAD) syndrome. 935 Aug 17

Thirty patients with juvenile insulin dependent diabetes mellitus (IDDM) were electrophysiologically evaluated. In addition to the conventional motor and sensory nerve conduction studies, intrafascicular microneurography was performed in the median nerve. In this method a tungsten microelectrode was inserted into the median nerve trunk at the elbow, and a compound nerve action potential (CNAP) was recorded with supramaximal electrical stimulation at the wrist. The subjects' age ranged from 8 to 31 years with an average (SD) of 15.4 (6.2) years; the disease duration varied from 1 to 23 years with an average (SD) of 8.3 (5.8) years. Polyneuropathy index (PNI), expressed as a mean percentage of the normal for twelve indices over the four nerves obtained by motor conduction studies, was 93.9% on the average in patients with IDDM. The mean amplitude of CNAP obtained by intrafascicular microneurography was 417 microV. These results indicate that neuropathy in IDDM is milder than that in adult non-insulin dependent diabetes mellitus (NIDDM). The mean value of PNI decreased at a rate of 0.56% per year; the mean glycosylated hemoglobin (A1c) level was as high as 8.2 +/- 0.9%, findings consistent with those of the previous analysis of adult patients with NIDDM. The PNI value had a significant negative correlation with the duration of diabetes mellitus (p < 0.001) and with mean glycosylated hemoglobin (A1c) level (p < 0.01). CNAP amplitude had a tendency to correlate with duration of diabetes mellitus (p < 0.1). In patients with IDDM we can tell exactly when the disease occurred. Progression of neuropathy in juvenile IDDM was identical to that of adult NIDDM. Careful management of diabetes mellitus is of importance to prevent the progression of neuropathy.
 ...
PMID:[Electrophysiological evaluation of polyneuropathy in juvenile insulin dependent diabetics]. 939 28

Over the past 30 years it has become apparent that not all diabetes presenting in childhood is autoimmune type 1. Increasingly type 2 diabetes, maturity onset diabetes of the young, iatrogenic diabetes, and rare syndromic forms of diabetes such as Wolfram's syndrome have been identified in children. This review is aimed at the general paediatrician looking after children with diabetes, and aims to provide an algorithm for assessment, investigation, and suggested management for the newly diagnosed child with suspected non-type 1 diabetes. This article will also be relevant to the child with atypical diabetes-that is, on low insulin doses outside the honeymoon period.
 ...
PMID:Acquired non-type 1 diabetes in childhood: subtypes, diagnosis, and management. 1555 52

Wolfram syndrome is the constellation of juvenile onset diabetes mellitus and optic atrophy, known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness).Patients demonstrate diabetes mellitus followed by optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple neurological abnormalities early in the fourth decade.This study reports two siblings with late diagnosed wolfram syndrome with diabetes insipidus, diabetes mellitus, optic atrophy, deafness and severe urological abnormalities.In conclusion, cases having early onset insulin-dependent diabetes mellitus and optic atrophy together need to be evaluated with respect to Wolfram.
 ...
PMID:Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports. 2006 5


1 2 Next >>