Manifestaciones clínicas y retraso diagnóstico en el síndrome de Wolfram

Esteban-Bueno, Gema; Trujillo, Franco

doi:10.1157/13090481

Cited by 7 publications

(3 citation statements)

References 12 publications

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“…Another case of ToF was reported in a 5-year-old girl [ 15 ]. Heart disorders were mentioned as collateral manifestations in a study involving 23 Spanish WS1 patients [ 16 ]. Cyanotic CHD was described in another cohort from North India [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1

Villatore,

Frontino,

Cascavilla

et al. 2024

JCM

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Purpose: Myocarditis is frequently a sporadic disease, but may also occur in the context of genetic disorders which may increase susceptibility to cardiac inflammation. Cardiac involvement in Wolfram syndrome type 1 (WS1) has been scarcely characterized. To our knowledge, no cases of virus-negative myocarditis have been reported in the WS1 pediatric population. Methods: We report the description of a pediatric case of acute myocarditis in the context of WS1, followed by a literature review of cardiovascular involvement associated with wolframin variants, and discuss potential pathophysiological mechanisms and therapeutic options. Results: A young patient with WS1, treated with insulin and liraglutide, was admitted for acute chest pain. Cardiac magnetic resonance and endomyocardial biopsy were performed to confirm the clinical suspicion of myocarditis. While congenital heart diseases and arrhythmias have been described previously in patients with WS1, this is the first description of virus-negative myocarditis. Conclusions: Myocarditis may represent a possible manifestation of cardiovascular involvement in WS1. Cardiovascular screening may be considered in patients with WS1.

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Section: Discussionmentioning

confidence: 99%

Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1

Villatore,

Frontino,

Cascavilla

et al. 2024

JCM

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“…In some WS patients sinus tachycardia, atrial or ventricular arrhythmias have been observed (Fabbri et al 2005). In a study involving 23 Spanish patients with WS the heart disorders are mentioned as adjacent manifestations of WS (Esteban Bueno and Gomez Trujillo 2006). To study the WS in more detail, a mouse (Koks et al 2009) and later a rat model of the Wfs1 deficiency has been developed (Plaas et al 2017).…”

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confidence: 99%

Lack of functional wolframin causes drop in plasmalemmal sodium-calcium exchanger type 1 expression at early stage in rat model of Wolfram syndrome

Kureková

Plaas²,

Cagalinec³

2020

gpb

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In previously introduced rat model of Wolfram syndrome, we have shown that in cardiac myocytes lacking functional wolframin protein the calcium transients and contractile response are significantly changed. Therefore, in this model, we evaluated protein and mRNA expression levels of following proteins involved in cardiac myocytes calcium homeostasis: the ryanodine receptor type 2, calsequestrin type 2, the junctophilin type 2 and plasmalemmal sodium-calcium exchanger type 1 (NCX1). For NCX1 we detected a significant decrease in expression both on protein and mRNA level. Thus, beyond its impact on endoplasmic reticulum stress, calcium, and mitochondria, wolframin influences processes in the myocyte plasma membrane.

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“…Algunas de estas complicaciones se muestran en la figura 1. La historia natural de este síndrome sugiere que las personas afectadas, desarrollan la mayoría de las complicaciones derivadas de esta enfermedad crónica progresiva (Esteban y Gómez, 2006) (Figura 1).…”

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The quality of life in the relatives of Wolfram’s syndrome patients

Esteban

Ruano

Motero

2014

EJIHPE

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Wolfram Syndrome (WS) is a rare disease (RD) with an estimated prevalence of 1/770,000 inhabitants. It is considered a multisystemic, chronic and progressive disease.WS diagnosis implies devastating consequences at physical, educational and emotional levels. WS is also known by the acronym DIDMOAD, derived from the first letters of the main clinical symptoms: Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness. Rare diseases are characterized by their low prevalence and the lack of knowledge on the pathophysiology and treatment of them. Interestingly, around 80% of RD have a genetic basis, and this fact causes doubts and uncertainties in the couples, about the idea of having another child. The existence of a RD in a family, alters significantly the relationships and the quality of life within the family. The present work remarks the huge value of psychosocial aspects in order to pay an adequate attention to these patients, not only taking care of the clinical aspects. The main purpose of this study has been to ascertain the quality of life of Wolfram’s syndrome affected patients, and its impact in the daily life.

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Manifestaciones clínicas y retraso diagnóstico en el síndrome de Wolfram

Cited by 7 publications

References 12 publications

Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1

Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1

Lack of functional wolframin causes drop in plasmalemmal sodium-calcium exchanger type 1 expression at early stage in rat model of Wolfram syndrome

The quality of life in the relatives of Wolfram’s syndrome patients

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