Diabetes mellitus in Friedreich Ataxia: A case series of 19 patients from the German-Austrian diabetes mellitus registry

Pappa, Angeliki; Häusler, Martin; Veigel, Andreas; Tzamouranis, Konstantina; Pfeifer, M.; Schmidt, A.; Bökamp, Martin; Haberland, Holger; Wagner, Siegfried; Brückel, Joachim; Sousa, Gideon de; Hackl, Lukas; Bollow, Esther; Holl, Reinhard W.

doi:10.1016/j.diabres.2018.05.008

Cited by 13 publications

(12 citation statements)

References 39 publications

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“…Patients with FRDA may experience impaired glucose tolerance and are at an increased risk of developing diabetes [5]. The diagnosis is often made after the development of acute symptoms such as polyuria and polydipsia, or the discovery of ketoacidosis [5][6][7]. Urological symptoms such as hesitancy, urgency, and incontinence are common in FRDA and can mimic polyuria or symptoms of a urinary tract infection [1].…”

Section: Discussionmentioning

confidence: 99%

“…The authors found that the management of spasticity, neuropathic pain, and the symptomatic treatment of heart failure and diabetes with the help of nursing care improved the quality of life of these patients [12]. This emphasizes the importance of support systems and coordinated care for patients with FRDA [6,12]. Individualized treatment regimens with insulin, with or without antidiabetic medications, are crucial for the successful control of diabetes in these patients [6].…”

Section: Discussionmentioning

confidence: 99%

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Polyuria and Acute Hyperglycemia Secondary to New-Onset Diabetes in a Young Woman With Friedreich’s Ataxia

Santos¹,

Woloski²,

Wu³

2021

Cureus

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A 23-year-old woman with progressive Friedreich's ataxia (FRDA) presented to a local urgent care facility for urinary urgency and frequency. A urinalysis showed the presence of trace ketones and glucose, and point-ofcare testing revealed severely elevated glucose. The patient was referred to the emergency department and was admitted for further evaluation of hyperglycemia. Laboratory tests were negative for a urinary tract infection; however, results revealed elevated serum glucose and hemoglobin A1C. She was diagnosed with new-onset diabetes mellitus and started on insulin therapy. Management of her diabetes was complicated due to advanced neurodegenerative symptoms related to FRDA. An individualized treatment plan and coordination of care with her home facility were essential for managing her diabetes.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Polyuria and Acute Hyperglycemia Secondary to New-Onset Diabetes in a Young Woman With Friedreich’s Ataxia

Santos¹,

Woloski²,

Wu³

2021

Cureus

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“… 78 The main pathogenic factor of diabetes in early-onset FRDA-related diabetes thus appears to be pancreatic β cell insulin deficiency. 79 . In contrast, later in life, peripheral insulin resistance also contributes to development of FRDA-related diabetes.…”

Section: Specific Care Aspectsmentioning

confidence: 99%

Friedreich Ataxia: Multidisciplinary Clinical Care

Lynch¹,

Schadt²,

Kichula³

et al. 2021

JMDH

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Friedreich ataxia (FRDA) is a multisystem disorder affecting 1 in 50,000–100,000 person in the United States. Traditionally viewed as a neurodegenerative disease, FRDA patients also develop cardiomyopathy, scoliosis, diabetes and other manifestation. Although it usually presents in childhood, it continues throughout life, thus requiring expertise from both pediatric and adult subspecialist in order to provide optimal management. The phenotype of FRDA is unique, giving rise to specific loss of neuronal pathways, a unique form of cardiomyopathy with early hypertrophy and later fibrosis, and diabetes incorporating components of both type I and type II disease. Vision loss, hearing loss, urinary dysfunction and depression also occur in FRDA. Many agents are reaching Phase III trials; if successful, these will provide a variety of new treatments for FRDA that will require many specialists who are not familiar with FRDA to provide clinical therapy. This review provides a summary of the diverse manifestation of FRDA, existing symptomatic therapies, and approaches for integrative care for future therapy in FRDA.

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“…признаки нарушения углеводного обмена (СД и нарушение толерантности к глюкозе) были выявлены у 32% пациентов [11]. Ключевым звеном патогенеза СД является гибель бета-клеток островков Лангерганса поджелудочной железы вследствие митохонд риальной дисфункции, однако обсуждается и развитие инсулинорезистентности [12]. Выявлена положительная корреляция вероятности развития СД с числом повторов в составе аллеля GAA1 (аллель с меньшей степенью GAA-экспансии), длительностью и тяжестью заболевания [13].…”

Section: клиника нервных и психических заболеваний Clinical Presentatunclassified

Epigenetic regulation of clinical manifestations of Friedreich's disease

Nuzhny

Abramycheva

Николаева

et al. 2020

Z. nevrol. psikhiatr. im. S.S. Korsakova

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Резюме Цель исследования. Изучение профиля метилирования гена FXN и его влияния на формирование клинической картины болезни Фридрейха (БФ). Материал и методы. У 17 пациентов с БФ была проанализирована промоторная область, а также область 1-го интрона гена FXN до GAA-экспансии (UP-GAA) и после GAA-экспансии (DOWN-GAA), всего было исследовано суммарно 45 СрGсайтов. Результаты. При изучении геноэпигенетических взаимосвязей были выявлены корреляции между степенью метилирования ряда CpG-сайтов в UP-GAA и DOWN-GAA и количеством GAA-повторов в обоих экспандированных аллелях FXN у пациентов с БФ. При клинико-эпигенетическом анализе выявлено более раннее начало и более тяжелое течение БФ при гиперметилировании нескольких CpG-сайтов в UP-GAA-области гена. Также выявлена связь метилирования и наличия экстраневральных проявлений БФ: наличие кардиомиопатии было более вероятно при гипометилировании CpG-сайта промоторной области, а нарушения углеводного обмена чаще встречались при гипометилировании CpG-сайтов в DOWN-GAA области. Заключение. Полученные нами данные свидетельствуют о значительном вкладе эпигенетических модификаций гена FXN в формирование клинической картины БФ.

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Diabetes mellitus in Friedreich Ataxia: A case series of 19 patients from the German-Austrian diabetes mellitus registry

Cited by 13 publications

References 39 publications

Polyuria and Acute Hyperglycemia Secondary to New-Onset Diabetes in a Young Woman With Friedreich’s Ataxia

Polyuria and Acute Hyperglycemia Secondary to New-Onset Diabetes in a Young Woman With Friedreich’s Ataxia

Friedreich Ataxia: Multidisciplinary Clinical Care

Epigenetic regulation of clinical manifestations of Friedreich's disease

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