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)

A 19-year-old Japanese woman developed diabetes mellitus, diabetes insipidus and optic atrophy. Other abnormal ocular findings included color blindness, elevated dark adaptation threshold and constriction of visual fields. Diabetic retinopathy, which is considered to be rare in this syndrome, also was found in the fundi of this patient. During the nine-year follow-up period, diabetic retinopathy deteriorated despite treatment by photocoagulation and vitrectomy, suggesting the importance of ophthalmological examinations in patients with DIDMOAD syndrome.
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PMID:[A long-term follow-up of a patient with DIDMOAD (Wolfram) syndrome]. 187 8

Diabetes mellitus and bilateral optic atrophy are the defining characteristics of the autosomal recessive Wolfram syndrome. Diabetes insipidus, neurogenic bladder, deafness, and other neurological manifestations are frequent. A review was made of the medical records of 68 Wolfram syndrome patients, aged between 8 and 43 years, identified by casefinding throughout the USA. 41 of the patients (60%) had episodes of severe depression, psychosis, or organic brain syndrome, as well as impulsive verbal and physical aggression. These symptoms were very severe in 17 patients (25%), of whom 12 required admission to a psychiatric hospital and 11 attempted suicide. We conclude that the Wolfram syndrome gene predisposes homozygotes to psychiatric illness.
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PMID:Psychiatric findings in Wolfram syndrome homozygotes. 197 60

Two brothers with DIDMOAD (Wolfram) syndrome are described. The elder brother is 12 years old and was diagnosed as having diabetes mellitus at five. He later developed optic atrophy. The younger brother is 10 years old. He also has suffered from diabetes mellitus and optic atrophy. Their audiograms showed moderate hearing loss only at 8000 Hz. Auditory brainstem response (ABR) was normal. No vestibular abnormalities were found. In 151 reported cases, including present cases, 17.4 percent have moderate to severe or at least subjective deafness, 45.0 percent have deafness only at high frequency, 6 percent have deafness for which the severity was not described, 13.4 percent have normal hearing, and in 18.1 percent the status of hearing was not mentioned.
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PMID:Otologic findings of DIDMOAD syndrome. 201 92

In France, the combination of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) is designated as Wolfram syndrome. An analysis of 14 personal cases and previous reports showed that the syndrome develops gradually and specified the most common order of occurrence of the various components as well as the other abnormalities (e.g., of the urinary tract) which may be found. Wolfram syndrome is an inherited condition (recessive autosomal transmission). The lack of association with HLA antigens seems to have been established (in the few cases where HLA typing was performed). The prognosis of Wolfram syndrome is grim, with the occurrence of each additional component adding to the severity of the disease.
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PMID:[Diabetes mellitus, diabetes insipidus, optic atrophy and deafness]. 206 60

Two patients with diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA), deafness (D) and dilatation of the urinary tract-the so-called DIDMOAD syndrome are presented. In one of the patients, the presenting components were DI and OA. In the second case, DM was the first manifestation to be diagnosed, and in this patient the course of the syndrome was complicated by associated epileptical activity disorders, and later septicemia. The admission of these patients led us to review the literature describing this syndrome.
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PMID:Diabetes mellitus, diabetes insipidus, optic atrophy and deafness (DIDMOAD syndrome). 209 58

We describe a Chinese family with three siblings, all females, presenting with the Wolfram Syndrome. All three cases had almost similar clinical presentation of insulin-dependent diabetes mellitus, with rapid development of severe renal and retinal complications. Two siblings died at age thirty and thirty-one years of end-stage renal failure. All three cases had visual symptoms since early childhood progressing rapidly to loss of vision. Two of the three siblings had severe diabetic retinopathy requiring laser photocoagulation. These presentations are in contrast to most reported cases of the Wolfram syndrome where advanced diabetic eye complication is a rare feature. We also present several features present in one of the siblings, viz., microcephaly, microstomia, clinodactylyl, brachydactylyl, empty sella syndrome and severe hypoplasia of the right internal carotid vessels associated with mild narrowing of the left internal carotid artery which have not been previously described.
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PMID:A Chinese family with Wolfram syndrome presenting with rapidly progressing diabetic retinopathy and renal failure. 222 17

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 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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