Protocolo genético en Atención Primaria para enfermedades raras: el síndrome de Wolfram como prototipo

Esteban-Bueno, Gema; Díaz-Anadón, Lucas Ramón; González, Antonio Rodríguez; Cabrero, Miguel Navarro; Hernández, Aída María Berenguel

doi:10.1016/j.aprim.2022.102285

Cited by 2 publications

(4 citation statements)

References 17 publications

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“…From population 2 (who attended in person), the information described above was collected for a total of 68 patients. In addition, a series of specific assessments were carried out [ 12 ] to complement the previous information. During the initial examination, an otoscopy was performed since it allows for an assessment of the middle ear and the existence of earwax plugs, which, if visualized, can be removed for better assessment.…”

Section: Methodsmentioning

confidence: 99%

“…Currently, the function of wolframin in the ear has not yet been established, but it has been described as being involved in the ionic exchange at the level of the inner ear [ 8 ]. In addition, we know that alterations in this protein pose a high risk of presenting sensorineural hearing loss [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

“…In the same way, the studies with a population volume that assess the patient from a multidisciplinary perspective are minimal, preventing the establishment of conclusions about a possible correlation between genetics and other aspects, such as the sex of the patients or the cardinal symptoms of WS. For this reason, regarding the diagnosis of WS1, there is not a main marker, but there are clinical diagnostic criteria, such as progressive OA before 17 years of age and juvenile DM developed before 15 years of age [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

“…In addition, we know that alterations in this protein pose a high risk of presenting sensorineural hearing loss. [12] Clinically, WSL is defined by low-frequency sensorineural hearing loss (LFSNHL) (also known as DFNA6/14/38 LFSNHL), optic nerve atrophy, the onset of psychiatric disorders (anxiety, depression, or hallucinations), and the absence of DM [6,13]. It can also cause isolated non-syndromic low-frequency sensorineural hearing loss and, occasionally, isolated DM [14].…”

Section: Introductionmentioning

confidence: 99%

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Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis

Esteban-Bueno

Hernández²,

Fernández

et al. 2023

Healthcare

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Wolfram syndrome (WS) is a rare neurodegenerative disease usually of autosomal recessive origin. There is limited research about sensorineural hearing loss, despite it being a fundamental entity. It is important to broaden the study of this disease and specify a set of tests required for an adequate assessment of patients for efficient monitoring and control. The fundamental objective of this research is to understand WS from a biomedical perspective in order to help in its diagnosis, follow-up, and control. Pure tones audiometry, tympanometry, speech perception, the speech intelligibility index without aid, and testing at high frequencies were among the audiological measurements utilised since they were deemed suitable for standardised follow-up. Mixed linear models were used to examine the effects of age, time, or mean interaction in pure-tone (IPT), the average of high frequencies (HFA), auditory brainstem response (ABR), and brainstem auditory evoked potentials (BAEP). The genetic analysis allowed mutations to be classified into three phenotype-genotype groups, where the phenotype indicated the severity of the hearing loss. Patients with homozygous gene changes had a more severe neurosensory phenotype. The early discovery of sensorineural hearing loss and WS is crucial since it allows intensive follow-up and treatment of the person affected from the start.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%