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.

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 Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
N. B. Toppings ◽  
J. M. McMillan ◽  
P. Y. B. Au ◽  
O. Suchowersky ◽  
L. E. Donovan
Keyword(s):  
Diabetes Mellitus ◽  
Optic Atrophy ◽  
Cell Function ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Wolfram Syndrome ◽  
Biallelic Mutations ◽  
Therapeutic Considerations

Background.Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations inWFS1,a gene implicated in endoplasmic reticulum (ER) and mitochondrial function. WS is characterized by insulin-requiring diabetes mellitus and optic atrophy. A constellation of other features contributes to the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). This review seeks to raise awareness of this rare form of diabetes so that individuals with WS are identified and provided with appropriate care.Case.We describe a woman without risk factors for gestational or type 2 diabetes who presented with gestational diabetes (GDM) at the age of 39 years during her first and only pregnancy. Although she had optic atrophy since the age of 10 years, WS was not considered as her diagnosis until she presented with GDM. Biallelic mutations inWFS1were identified, supporting a diagnosis of classical WS.Conclusions.The distinct natural history, complications, and differences in management reinforce the importance of distinguishing WS from other forms of diabetes. Recent advances in the genetics and pathophysiology of WS have led to promising new therapeutic considerations that may preserveβ-cell function and slow progressive neurological decline. Insight into the pathophysiology of WS may also inform strategies forβ-cell preservation for individuals with type 1 and 2 diabetes.

scholarly journals The Evolution of Hemoglobin A1C Targets for Youth with Type 1 diabetes: Rationale and Supporting Evidence

2021 ◽  
Author(s):  
Maria J. Redondo ◽  
Ingrid Libman ◽  
David M Maahs ◽  
Sarah K. Lyons ◽  
Mindy Saraco ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Hemoglobin A1c ◽  
Severe Hypoglycemia ◽  
Standards Of Care ◽  
Supporting Evidence ◽  
Hypoglycemia Unawareness ◽  
History Of ◽  
Short Life Expectancy

The American Diabetes Association 2020 Standards of Medical Care in Diabetes (Standards of Care) recommends a hemoglobin A1C of <7% (53 mmol/ml) for many children with type 1 diabetes (T1D), with an emphasis on target personalization. A higher A1C target of <7.5% may be more suitable for youth who cannot articulate symptoms of hypoglycemia or have hypoglycemia unawareness, and for those who do not have access to analog insulins, advanced diabetes technologies, or cannot monitor blood glucoses regularly. Even less stringent A1C targets (e.g. <8%) may be warranted for children with a history of severe hypoglycemia, severe morbidities, or short life expectancy. During the “honeymoon” period and in situations where lower mean glycemia is achievable without excessive hypoglycemia or reduced quality of life, an A1C <6.5% may be safe and effective

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 Ketogenic Diet in a Patient With Type 1 Diabetes Mellitus With Hypoglycemia Unawareness

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A460-A460
Author(s):  
Mohamad Anas Sukkari ◽  
Lucia Cotten ◽  
Murtaza Alam ◽  
Emily Temponi ◽  
Priya D John ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Glycemic Control ◽  
Ketogenic Diet ◽  
Severe Hypoglycemia ◽  
Glycemic Variability ◽  
Glucose Variability ◽  
Continuous Glucose Monitor ◽  
Hypoglycemia Unawareness ◽  
The Impact

Abstract Introduction: The high fat, low carbohydrate ketogenic diet has become increasingly popular in recent years for weight loss and glycemic control in patients with type 2 diabetes. Although prior studies have suggested this diet can improve glycemic control and decrease glucose variability, the impact of a ketogenic diet on rates of hypoglycemia in patients with hypoglycemia unawareness is not well described. Case Description: Our patient is a 37 year-old woman with Type 1 diabetes for 13 years complicated by hypoglycemia unawareness with HbA1c of 7.7%. Her insulin treatment regimen included insulin glargine 22 units daily, insulin aspart using a 1:15 carbohydrate ratio for prandial insulin dosing with a correction factor of 90. She had 5 episodes of severe hypoglycemia within the previous 3 months. The patient decided to resume a ketogenic diet given her previous improvement in glycemic control. Ketosis was confirmed using urine ketone strips performed by the patient. After 2 weeks on the ketogenic diet, a professional blinded continuous glucose monitor (CGM) was used for 4 weeks to monitor glycemic control. CGM data for weeks 1 and 2 showed overall stability of time in target glucose range [TIR, 60% and 69%, respectively], with a slight increase in time spent below range [TBR, 13% and 17%, respectively]. During week 3, the patient experienced a significant decline in TIR to 31%, and associated increase in hypoglycemia (TBR, 13% to 28%). In addition, glycemic variability increased during this time [CV (coefficient of variation), 40.6% during week 1 to 58.1% during week 3]. Patient did not experience symptoms concerning for DKA, and continued to have asymptomatic hypoglycemia despite reductions in her insulin doses during week 3. Following these dose adjustments, CGM data during week 4 were similar to week 1 (TIR 65%, TBR 10%, CV 35%). Patient stopped following the ketogenic diet after 6 weeks due to social factors. Conclusion: A ketogenic diet was associated with increased frequency of hypoglycemic events. In a patient with Type 1 diabetes and hypoglycemia unawareness, use of ketogenic diet may further increase the risk of severe hypoglycemia.

scholarly journals The Evolution of Hemoglobin A1C Targets for Youth with Type 1 diabetes: Rationale and Supporting Evidence

2021 ◽  
Author(s):  
Maria J. Redondo ◽  
Ingrid Libman ◽  
David M Maahs ◽  
Sarah K. Lyons ◽  
Mindy Saraco ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Hemoglobin A1c ◽  
Severe Hypoglycemia ◽  
Standards Of Care ◽  
Supporting Evidence ◽  
Hypoglycemia Unawareness ◽  
History Of ◽  
Short Life Expectancy

The American Diabetes Association 2020 Standards of Medical Care in Diabetes (Standards of Care) recommends a hemoglobin A1C of <7% (53 mmol/ml) for many children with type 1 diabetes (T1D), with an emphasis on target personalization. A higher A1C target of <7.5% may be more suitable for youth who cannot articulate symptoms of hypoglycemia or have hypoglycemia unawareness, and for those who do not have access to analog insulins, advanced diabetes technologies, or cannot monitor blood glucoses regularly. Even less stringent A1C targets (e.g. <8%) may be warranted for children with a history of severe hypoglycemia, severe morbidities, or short life expectancy. During the “honeymoon” period and in situations where lower mean glycemia is achievable without excessive hypoglycemia or reduced quality of life, an A1C <6.5% may be safe and effective

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

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