scholarly journals Diabetes Mellitus and Optic Atrophy: A Study of Wolfram Syndrome in the Lebanese Population

2004 ◽  
Vol 89 (4) ◽  
pp. 1656-1661 ◽  
Author(s):  
R. Medlej ◽  
J. Wasson ◽  
P. Baz ◽  
S. Azar ◽  
I. Salti ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Neurodegenerative Disorder ◽  
Sensorineural Deafness ◽  
Microvascular Disease ◽  
Insulin Dependent Diabetes Mellitus ◽  
Wolfram Syndrome ◽  
Dependent Diabetes Mellitus ◽  
Number Of Patients

Abstract Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). WFS seems to be a heterogeneous disease that has not yet been fully characterized in terms of clinical features and pathophysiological mechanisms because the number of patients in most series was small. In this study we describe 31 Lebanese WFS patients belonging to 17 families; this, to our knowledge, is the largest number of patients reported in one series so far. Criteria for diagnosis of WFS were the presence of insulin-dependent diabetes mellitus and optic atrophy unexplained by any other disease. Central diabetes insipidus was found in 87% of the patients, and sensorineural deafness confirmed by audiograms was present in 64.5%. Other less frequent features included neurological and psychiatric abnormalities, urodynamic abnormalities, limited joint motility, cardiovascular and gastrointestinal autonomic neuropathy, hypergonadotropic hypogonadism in males, and diabetic microvascular disease. New features, not reported in previous descriptions, such as heart malformations and anterior pituitary dysfunction, were recognized in some of the patients and participated in the morbidity and mortality of the disease. Genetic analysis revealed WFS1 gene mutations in three families (23.5%), whereas no abnormalities were detected in mitochondrial DNA. In conclusion, WFS is a devastating disease for the patients and their families. More information about WFS will lead to a better understanding of this disease and hopefully to improvement in means of its prevention and treatment.

scholarly journals Wolfram syndrome: a case report with severe polyuria and secondary urological abnormalities

2021 ◽  
Vol 8 (4) ◽  
pp. 759
Author(s):  
Niranjan kumbara Hunasagatta Omkarappa ◽  
Prashanth Siddaiah ◽  
Shalini Sankalapura Rangaswamy ◽  
Ramu Anjanaiah ◽  
Devika Chennakeshava ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Case Report ◽  
Diabetes Insipidus ◽  
Type 1 Diabetes Mellitus ◽  
Optic Atrophy ◽  
Sensorineural Deafness ◽  
Wolfram Syndrome ◽  
Dependent Diabetes Mellitus

Wolfram syndrome is the condition characterized by juvenile onset diabetes mellitus and optic atrophy, which is also known as DIDMOAD. Classical Wolfram syndrome is a rare autosomal recessive disorder caused by mutations in WFS1, a gene involved in endoplasmic reticulum and mitochondrial function. Patients present with type 1 diabetes mellitus followed by optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts as early as in the third decade, and various neurological abnormalities in the early fourth decade. We describe a case report of 14-year-old male child diagnosed as wolfram syndrome with type 1 diabetes mellitus, diabetes insipidus, deafness, optic atrophy and severe urological abnormalities. Patients who present with early onset insulin-dependent diabetes mellitus and optic atrophy together should be evaluated with respect to Wolfram Syndrome. If a patient, who is a known case of diabetes mellitus, presents with persistent polyuria or neurogenic bladder despite good glycemic control, suspicion of wolfram syndrome and further evaluation regarding the same must be made. Recognizing and timely management of this condition will help to improve the quality of life in the patient.

scholarly journals Sugar-Lowering Drugs for Type 2 Diabetes Mellitus and Metabolic Syndrome—Review of Classical and New Compounds: Part-I

2019 ◽  
Vol 12 (4) ◽  
pp. 152 ◽  
Author(s):  
Vieira ◽  
Souto ◽  
Sánchez-López ◽  
Machado ◽  
Severino ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Metabolic Syndrome ◽  
Insulin Dependent Diabetes Mellitus ◽  
Dependent Diabetes Mellitus ◽  
Plant Metabolites ◽  
Secondary Plant Metabolites ◽  
Chronic Hyperglycemia ◽  
Novel Approach ◽  
Number Of Patients

Diabetes mellitus (DM) is a metabolic disorder characterized by chronic hyperglycemia together with disturbances in the metabolism of carbohydrates, proteins and fat, which in general results from an insulin availability and need imbalance. In a great number of patients, marketed anti-glycemic agents have shown poor effectiveness in maintaining a long-term glycemic control, thus being associated with severe adverse effects and leading to an emerging interest in natural compounds (e.g., essential oils and other secondary plant metabolites, namely, flavonoid-rich compounds) as a novel approach for prevention, management and/or treatment of either non-insulin-dependent diabetes mellitus (T2DM, type 2 DM) and/or Metabolic Syndrome (MS). In this review, some of these promising glucose-lowering agents will be comprehensively discussed.

Diabetes mellitus, cardiovascular disease and hormone replacement therapy

2000 ◽  
Vol 8 (2) ◽  
pp. 153-172 ◽  
Author(s):  
M Perera ◽  
MA Lumsden
Keyword(s):  
Diabetes Mellitus ◽  
Hormone Replacement ◽  
Hospital Costs ◽  
Insulin Dependent Diabetes Mellitus ◽  
World Health ◽  
Dependent Diabetes Mellitus ◽  
Diabetic Patients ◽  
Common Chronic Disease ◽  
Number Of Patients ◽  
Health Organization

Diabetes mellitus is the most common chronic disease in the industrialized world. In North America and Europe the prevalence in adults is 7–8% and it is estimated that there are more than 100 million cases worldwide. With the increasing prevalence of non-insulin-dependent diabetes mellitus (NIDDM) this figure continues to rise. The World Health Organization predicts that the number of patients with diabetes will rise from 130 million to over 300 million over the next 25 years. Diabetes affects 1 in 30 people living in England and Wales and accounts for more than £2 billion of hospital costs annually. The number of diabetic patients in the UK is predicted to double to 3 million by the year 2010.

scholarly journals Role of training programs in the treatment of patients with type II diabetes mellitus

1995 ◽  
Vol 41 (6) ◽  
pp. 4-6
Author(s):  
Ye. V. Surkova ◽  
M. B. Antsiferov
Keyword(s):  
Diabetes Mellitus ◽  
Insulin Dependent Diabetes Mellitus ◽  
Type Ii Diabetes Mellitus ◽  
Dependent Diabetes Mellitus ◽  
Number Of Patients ◽  
Insulin Dependent ◽  
Quality Of Medical Care ◽  
Quantitative Indicators

According to the Ministry of Health of the Russian Federation, the number of patients with non-insulin-dependent diabetes mellitus (NIDDM) in Russia is currently 1.6 million. Providing effective treatment for NIDDM is a significant problem for domestic health in terms of both quantitative indicators and the quality of medical care. Successful therapy of this disease is impossible without changing the patient’s lifestyle. The treatment process affects such essential aspects of lifestyle as nutrition, physical activity, control of body weight, and continues throughout life. In this regard, the effectiveness of the traditional therapeutic approach to NIDDM is not high enough and, according to experts, the motivation to control and treat diabetes cannot be achieved without training.

scholarly journals A Case of Wolfram Syndrome Presenting with Restlessness

2016 ◽  
Vol 34 (1) ◽  
pp. 42-44
Author(s):  
Syed Ghulam Mogni Mowla ◽  
Md Titu Miah ◽  
Ashraf Ur Rahman ◽  
Shamsuddoha Sarker Shonchoi ◽  
Muhammad Nazmul Alam ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Early Detection ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Early Onset ◽  
Genetic Disorder ◽  
Wolfram Syndrome ◽  
Supportive Treatment ◽  
Rare Genetic Disorder

Wolfram Syndrome ( DIDMOAD) is a rare genetic disorder presenting with Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness and some other neurological , reproductive , hormonal, urological and psychic problems. About 200 cases have been reported so far. Here we present a 25 years old Bangladeshi male having early onset Diabetes Mellitus, optic atrophy, deafness and many other features consistent with Wolfram Syndrome. We examined the patient thoroughly and did necessary investigations to confirm our diagnosis. As there is no cure of this disorder, we gave symptomatic and supportive treatment to the patient to make his life easier. Although the outcome is unrewarding , such patients will be kept in regular follow up for early detection of new complications and possible solutions.J Bangladesh Coll Phys Surg 2016; 34(1): 42-44

scholarly journals The importance of multidisciplinary care of patients with Wolfram

2018 ◽  
Vol 1 (2) ◽  
pp. 01-03
Author(s):  
Rebecca A Dennison
Keyword(s):  
Diabetes Mellitus ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Severe Hypoglycemia ◽  
Multidisciplinary Care ◽  
Wolfram Syndrome ◽  
Continuous Glucose Monitor ◽  
Hypoglycemia Unawareness ◽  
History Of

Background: Wolfram syndrome is a genetic condition, which is typically inherited in autosomal recessive fashion, characterized by the combination of diabetes mellitus and optic atrophy. It is along a spectrum which encompasses DIDMOAD (Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Profound hypoglycemic unawareness can be seen in this condition but is not commonly described as an associated feature in the literature. Case report: A 16 year old female with history of presumed type 1 diabetes presented to urology clinic with urinary incontinence. She was found to have profound dilation of the bladder and was admitted for bladder decompression. During the course of admission she was found to also have diabetes insipidus and optic atrophy. She had several severe hypoglycemic episodes with profound hypoglycemia unawareness during this admission. Genetic testing for Wolfram syndrome was positive. As an outpatient she was placed on a continuous glucose monitor to help manage her hypoglycemia. Addtionally, psychiatric support to manage her associated depression was an important aspect of her therapy. As her depression improved so did her ability to comply with the necessary therapies. Conclusions: Wolfram syndrome is a rare syndrome that has been well described. However, patients with this syndrome have frequent hypoglycemia unawareness and severe hypoglycemia likely related to the neurologic deterioration that occurs at the molecular level in the pathogenesis of Wolfram syndrome. Strategies must be put in to place to help prevent and quickly treat these hypoglycemic events.

Efficacy of GLP-1 Agonist Therapy in Autosomal Dominant WFS1-Related Disorder: A Case Report

2020 ◽  
pp. 1-6
Author(s):  
Kevin J. Scully ◽  
Joseph I. Wolfsdorf
Keyword(s):  
Diabetes Mellitus ◽  
Autosomal Dominant ◽  
Neurodegenerative Disorder ◽  
Low Frequency ◽  
Sensorineural Deafness ◽  
Indirect Evidence ◽  
Wolfram Syndrome ◽  
Related Disorder ◽  
History Of ◽  
Congenital Strabismus

<b><i>Background:</i></b> Wolfram syndrome is a rare neurodegenerative disorder, characterized by the presence of diabetes insipidus, diabetes mellitus, optic atrophy, and sensorineural deafness. The majority of cases are due to autosomal recessive biallelic variants in the <i>WFS1</i> gene; however, pathogenic autosomal dominant (AD) mutations have also been described. Glucagon-like peptide (GLP-1) agonists have been studied in both animal models and humans with classic Wolfram syndrome. <b><i>Case:</i></b> We present a 15-year-old female with a personal and family history of congenital strabismus, bilateral cataracts, low-frequency sensorineural hearing loss, and diabetes mellitus. Trio whole exome sequencing revealed a previously unknown maternally inherited heterozygous variant in exon 8 of the <i>WFS1</i> gene c.2605_2616del12 <i>p</i>.Ser869_His872del, leading to the diagnosis of AD WFS1-related disorder. Treatment with a GLP-1 agonist resulted in marked improvement in glycemic control and discontinuation of insulin therapy. This patient’s response to a GLP-1 agonist provides suggestive indirect evidence for a role of WFS1 on β-cell endoplasmic reticulum stress and suggests that treatment with a GLP-1 agonist should be considered in patients with dominant forms of WS.

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