유전성 난청

최병윤,김소영 한양대학교 의과대학 2015 Hanyang Medical Reviews Vol.35 No.2

Hearing loss is one of the most common sensory disorders and has numerous environmental and genetic factors that influence its onset and development. Hearing loss can be classified by either the affected anatomic or functional lesion of hearing loss, or as conductive or sensorineural hearing loss (SNHL). Genetic factors account for about 50% of congenital SNHL, and are therefore the most common cause. Molecular genetics research has identified more than 100 genes related to hearing and hearing loss, and shown that the risk of hearing loss caused by non-genetic factor is modified by genetic susceptibility. About 30% of genetic hearing loss is syndromic related and has affected phenotypic markers in other organs that make it easier to correctly diagnose the etiology of the hearing loss. In some cases, hearing loss can precede the pathologies of other organs and in these cases, hearing loss acts as a predictor of the syndrome associated pathologies of other organs. Inheritance of nonsyndromic hearing loss follows common inheritance patterns such as autosomal dominant, autosomal recessive, sex chromosome related, and mitochondrial inheritances. The paucity of predominant phenotypes and ethnic specificity of the prevalence and types of mutations may hinder the genetic diagnosis in nonsyndromic hearing loss. However, progress in elucidating the causal mutations is going forward using stratified genetic diagnostic strategies of candidate genes identified by hearing phenotypes and patterns of inheritance.

전정구형낭 청력에 관한 연구

허승덕 한국음성학회 2012 말소리와 음성과학 Vol.4 No.3

The aims of this study are to consider auditory physiological characteristics and to confirm audiological evaluation and interpretation in regards to cases of sensorineural hearing loss that observe an abnormal AB gap. Vestibulosaccular hearing occurs when there is an abnormally large air-bone gap (AB gap) in sensorineural hearing loss, also known as pure cochlear conductive hearing loss. Generally, an AB gap is caused by damage to the external and/or middle ear. In conductive hearing loss, loss of air condition hearing occurs due to a loss of resonance in the outer ear and/or impedance mismatching in the middle ear. Most of these types of hearing loss can be treated medically and surgically. However, there is no medical treatment for an AB gap in sensorineural hearing loss and hearing loss can worsen gradually or suddenly. In addition, many studies have reported that head trauma makes hearing loss even more serious. Therefore, in order to differentiate between conductive hearing losses, it is important to check whether or not there is an enlarged vestibular aqueduct by means of temporal bone computerized tomography and/or magnetic resonance imaging.

급성저주파감각신경성난청: 메니에르병으로 이행에 대한 고찰

김규성,오윤석,최호석,김규진 대한평형의학회 2010 Research in Vestibular Science Vol.9 No.1

Background and Objectives: Low tone sensorineural hearing loss is deterioration in audiometric low frequencies (250 and 500 Hz), preservation of high frequencies (2, 4, and 8 kHz). The aim of this study is to find out differences of clinical manifestation and prognosis of acute low tone sensorineural hearing loss (ALHL), a subtype of sudden sensorineural hearing loss, and potential progression to Meniere’s diseases. Materials and Methods: Among 465 patients with unilateral hearing loss initially diagnosed with sudden sensorineural hearing loss, we analyzed clinical characteristics of 96 patients who had acute low tone sensorineural hearing loss, but had no history of previous ALHL. Results: The clinical features of ALHL include a predominance of female suffers (72.9%), more dizziness (36%), high incidence of sound perception change (16.7%), tinnitus (42.8%), and ear fullness (20.8%). The prognosis shows recovery in 67.7% of patients. However, 24.0% of patients show recurrence of low tone loss, and 15.6% develop Meniere’s disease. Specially, if the dizziness symptoms were accompanied, progression to Meniere’s disease was more common (31.4%). Conclusion: Our results appear that clinical characteristics were different in the ALHL patients compared to the idiopathic sensorineural hearing loss patients. Therefore, when dizziness, ear fullness and tinnitus are accompanied with low tone hearing loss, an appropriate patient education on possible progression to Meniere’s disease is necessary.

감각신경성 난청의 원인과 재활치료

백무진 한양대학교 의과대학 2015 Hanyang Medical Reviews Vol.35 No.2

Sensorineural hearing loss is one of the most common chronic clinical disorders that we can easily encounter. The etiology of sensorineural hearing loss is multifactorial: congenital, idiopathic, traumatic, noise-induced, head injury induced, infectious disease, drug induced, degenerative, immune disorder, vestibular schwannoma and Meniere’s disease. Many people are living with the discomfort of hearing loss because fundamental treatment is has not yet been found. Also due to the progress of medical science, human life span has been extended. As the result, the number of patients suffering from hearing loss has increased. But the present situation does not measure up to the demand for recovery of hearing loss. Hearing loss has a great influence on the quality of life. To overcome this situation, neural prostheses such as the cochlear implant and auditory brainstem implant are helpful for the rehabilitation of total deaf patients. Recently, due to the advancement of studies related to hair cell regeneration and the field of gene therapy on the inner ear has made big progress during the last few years. The purpose of this study is to describe the latest known causes and rehabilitation of sensorineural hearing loss.

Comparison of the Efficacy of Systemic and Combined Highly Frequent Intratympanic Steroid Treatment on Sudden Sensorineural Hearing Loss

Yee-Hyuk Kim,Sung-Yong Choi,Young-Ho Lee 대한청각학회 2011 Journal of Audiology & Otology Vol.15 No.3

Background and Objectives: Corticosteroids have been used for therapeutic management of sudden sensorineural hearing loss (SSNHL). Because of the complications associated with systemic steroid therapy and low levels of steroid in the inner ear after systemic administration, intratympanic steroid injection (ITSI) is currently used. The purpose of this study was to compare the efficacy of systemic steroid therapy with systemic combined high frequency ITSI therapy. Subjects and Methods: Forty-six SSNHL patients were divided into the only systemic dexamethasone therapy group (systemic steroid IV group, 27 patients) and the systemic with frequent intratympanic dexamethasone injection group (combined ITSI group, 19 patients). In the systemic steroid IV group, dexamethasone was administered intravenously for 5 days followed by oral tapered doses for 10 days. In the combined ITSI group, intratympanic dexamethasone was administered 5 times per day for 5 consecutive days in addition to intravenous administration of dexamethasone. Hearing was assessed both before therapy and at 15 days, 4 weeks, and 8 weeks after the initiation of therapy. Results: The recovery rate and hearing gain were 74% (20 out of 27 patients) and 33 dB mean improvement in the systemic steroid IV group and 73.6% (14 out of 19 patients) and 41.5 dB mean improvement in the combined ITSI group. There was no statistically significant difference in hearing gain and the recovery rate between the two groups. Conclusions: The therapeutic effect of a combination of highly frequently administered intratympanic dexamethasone and systemic steroid therapy was not superior to only systemic steroid injection therapy. Introduction Sudden sensorineural hearing loss (SSNHL) is considered as an otologic emergency. Evaluation of treatments has been hampered by the low incidence of SSNHL, unknown natural history and the tendency for spontaneous hearing recovery (30-60%).1) The spontaneous hearing improvement in untreated patients usually occurs within 2 weeks after the onset of hearing loss.2) After 2 weeks of the onset of hearing loss, it becomes difficult to expect a spontaneous recovery. The current treatment of choice for hearing loss is either oral or intravenous administration of systemic steroids. However, the effectiveness of steroids in the treatment of idiopathic SSNHL still remains unproven.3) Treatment modalities that have been tried include the use of combination of corticosteroids, vasodilators, anti-viral agents, diuretics, hyperbaric oxygen, stellate ganglion block and low-salt diet.3)Intratympanic steroids are being increasingly used as a therapeutic option for SSNHL because of the advantages of intratympanic steroid injection like, nil occurrences of systemic effects of steroid treatment and increase in the amount of steroid entering the inner ear when compared to systemic injections. In particular, intratympanic steroids have been shown to be effective as a salvage treatment for SSNHL patients, who had no relief from the initial systemic treatment.4,5,6)Endolymphatic dexamethasone level shows the highest concentration within 1-2 hours after intratympanic dexamethasone injection and then there is a sharp reduction.7) We consider that it is useful to maintain a high concentration of dexamethasone in the endolymph by highly frequent intratympanic steroid injection (ITSI) therapy. The purpose of this study was to compare the efficacy of systemic steroid therapy with systemic combined high frequency ITSI therapy. Subjects and Methods Study design and patients The study included hospitalized patients that were diagnosed with SSNHL between August 2008 and January 2010. The diagnostic criteria for SSNHL were the acute onset of hearing loss of 30 dB or more over at least three contiguous audiometric frequencies, which may have occurred within 3 days. The treatments were initiated within 7 days after the occurrence of SSNHL. A total of 46 SSNHL patients were divided into 2 different treatment groups on a random basis. One group (systemic steroid IV group, 27 patients) was treated with systemic dexamethasone therapy and the other group (combined ITSI group, 19 patients) was treated with systemic dexamethasone and frequent intratympanic dexamethasone injection. In the systemic steroid IV group, dexamethasone was administered intravenously for 5 days followed by tapered doses orally for 10 days. In the combined ITSI group, intratympanic dexamethasone was administered 5 times per day for 5 consecutive days (from 9 AM to 9 PM at intervals of 3 hours) in addition to intravenous dexamethasone administration. Informed consent was obtained from every individual study subject. All the patients underwent medical history, physical and laboratory examinations and brain magnetic resonance image MRI scanning. Subjects with medical or central nervous system conditions, including syphilis, chronic renal disease, cardiovascular disease and retrocochlear lesion were excluded from the study. Subjects with true whirling type vertigo, family history of hearing loss, history of fluctuating hearing loss, head trauma and otologic surgery were also excluded from the investigation. Treatment protocol All the patients in both the groups were hospitalized for 5 days and treated with intravenous dexamethasone (10 mg) (dexamethasone®, Jeil Pharm, Seoul, Korea) for 5 days and subsequently with oral methylprednisolone (Methylon®, 4 mg/1T, KunWha Pharm, Seoul, Korea) for 10 days in tapered doses (48 mg, 40 mg, 32 mg, 24 mg, each for 2 days decreasing by 8 mg each 2 day, and 12 mg at the last 2 days), after which the patients were discharged from the hosp...

돌발성 난청 성인의 청능훈련 사례

조새림,오수희,방정화 한국청각언어재활학회 2018 Audiology and Speech Research Vol.14 No.1

Purpose: A 43-year-old woman diagnosed with a sudden sensorineural hearing loss. She did not accept her hearing loss and did not want to wear hearing aids, but her communication ability was the problem in her workplace. The purpose of this study was to investigate the efficacy of auditory training for improving communication ability through listening activities, and for accepting her hearing loss and wearing a hearing aid continuously through informational counseling. Methods: Receiver in canal hearing aid was selected for the left ear. Auditory training was conducted seven sessions for 30 mins listening activities and 10 minutes informational counseling. For listening activities, long stories were used, and for informational counseling, effects of hearing loss on communication, knowledge of hearing aids and emotional well-being were provided. Also, we simulated her workplace for training sessions. As objective assessments, word and sentence recognition scores were tested and as a subjective assessment, Korean Version of Profile Hearing Aid Benefit (K-PHAB) was conducted. Results: The recognition scores of word and sentence were improved after the auditory training. However, scores of KPHAB were not changed. The subject reported that she did not feel that her communication ability did not improve a lot, but she would maintain to use her hearing aid. Conclusion: Even though the subjective hearing aid benefit was not improved, behaviors of the subject were changed after the auditory training. Informational counseling is efficacy to understand and accept hearing loss and hearing aids.

The Combination Effects of Early Intratympanic Dexamethasone Injection for the Patients with Sudden Sensorineural Hearing Loss

이승환,Hyun Jung Min,Yong Hee Cho,성의숙,Seok Hyun Cho,박철원 대한청각학회 2011 Journal of Audiology & Otology Vol.15 No.3

Introduction Spontaneous recovery rate of sudden sensorineural hearing loss (SSNHL) is up to 38-65%, including partial response.1,2,3) Systemic steroid therapy and peripheral vasodilator might be helpful to recover the hearing.3) How steroids affect the inner ear still remains unclear. Steroids may increase labyrinthine circulation or influence the cochlear fluid homeostasis, possibly by attenuating an inflammatory progress.4,5) Most recovery occurs within 2 weeks after onset, so early treatment is important for prognosis.2)Animal studies demonstrate that the intratympanic route of administration results in significantly higher inner ear levels of steroids as compared with systemic administration.6,7) Intratympanic dexamethasone (ITD) offers the potential for directed delivery of high concentrations of therapeutic agents to the inner ear while avoiding systemic side effects of steroids. So recently, intratympanic dexamethasone injection (ITDI) is applied as salvage treatment for SSNHL patients who failed initial systemic treatment or for patients who concerned to have hazard risk on systemic steroids.8,9,10) And some reports show early intervention with ITD resulted in effective hearing recovery in patients with SSNHL.11,12) However, clinicians often follow cases in which hearing improves after a long period of time after discharge. Therefore the result of combination therapy is ambiguous between delayed effects of traditional systemic therapy and additional effects of ITDI. In this study, all patients including the control group were limited to Siegel's criteria IV right after initial systemic treatment. And then we investigated the effectiveness of combination therapy, early ITDI accompanied with systemic therapy on SSNHL by comparing the recovery rate of patients who only received traditional treatment. Materials and Methods We retrospectively reviewed the medical records and audiograms of the patients with SSNHL diagnosed from January 2005 to October 2010. SSNHL is defined as a hearing loss of 30 dB or more, affecting at least 3 consecutive audiometric frequencies, developing within 72 hours or less, and not attributable to any commonly identifiable cause of sudden hearing loss. In this study, we included subjects who hospitalized for 5 days within 1 week after symptoms developed and who showed no improvement of hearing (Siegel's criteria IV) at pure tone audiometry performed after 5 days of traditional systemic treatment, namely at discharge day. All patients were treated with traditional systemic treatment in the following manner; 12-day course of oral steroids (1 mg/kg prednisolone for 5 days, followed by tapering for 7 days) as well as agents that decrease blood viscosity (intravenous low molecular Dextran, 1,000 mL/day for 5 days) and vitamins. And then patients randomized to the ITDI group (n=47) were administered first ITDI at discharge day or first visiting day at outpatient clinic within 2 weeks after initiation of traditional treatment, whereas patients randomized to the control group (n=104) were administered traditional treatment only. All patients were followed up for at least 2 months. ITDI therapy The ITDI procedure was performed under a microscope. With the patient supine and the head turned to the opposite site, Xylocaine® 10% pump spray (lidocaine 10 mg/dose, Astrazeneca) was used to induce local anesthesia. The Dexamethasone (Dexamethasone®, 5 mg/mL) was loaded into a 1-mL tuberculin-type syringe with a long 25 gauge needle attached on it. One needle hole was made in the anesthetized area for air to escape during the middle ear injection. A second hole was made for the injection at anterosuperior portion of tympanic membrane and the drug solution was infused into the middle ear space in a quantity sufficient to fill the space or at least cover the round-window niche. After the injection, the head was placed slightly lower than the body, and the subject was instructed to lie... Background and Objectives: Intratympanic dexamethasone injection (ITDI) offers the potential for directed delivery of high concentrations of steroids to the inner ear while mitigating the risks involved with high doses of systemic steroids. We investigated the effectiveness of combination therapy, sequential early ITDI accompanied with systemic therapy on sudden sensorineural hearing loss (SSNHL). Materials and Methods: We gathered 151 SSNHL patient's data, who were refractory to systemic treatment for 5 days. Injection group (n=47) were administered systemic therapy and 4 times of ITDI within 2 weeks after break of SSNHL. Control group (n=104) only received traditional treatment. We compared last concreted hearing level and recovery rate according to initial hearing level and frequency. Results: Overall hearing improvement was observed in 47 of 104 (45.2%) control patients and in 30 of 47 (63.8%) ITDI patients (p=0.034). Depending on the degree of initial hearing loss, the patients with severe hearing loss who treated with ITDI showed significant higher recovery rate than control group (83.8% vs. 50.0%)(p=0.049). When we analyzed hearing improvements according to the frequency, clinically significant hearing improvements were observed at lower and mid-frequencies (250, 500 and 1,000 Hz) in the ITDI group than in the control group. Conclusions: Early combination therapy of intratympanic dexamethasone injection within 2 weeks accompanied with initial systemic treatment is effective for patients with refractory SSNHL, especially for patients with severe hearing loss

Medulloblastoma Manifesting as Sudden Sensorineural Hearing Loss

Terakawa, Yuzo,Tsuyuguchi, Naohiro,Takami, Toshihiro,Ohata, Kenji The Korean Neurosurgical Society 2011 Journal of Korean neurosurgical society Vol.50 No.1

We present a rare case of medulloblastoma which presented with unilateral sudden sensorineural hearing loss as an initial symptom. A 19-year-old man was admitted to our hospital with a chief complaint of dizziness and facial numbness on the right side. His illness had begun two years previously with sudden hearing loss on the right side, for which he had been treated as an idiopathic sudden hearing loss. Magnetic resonance imaging demonstrated abnormal signals located mainly in the right middle cerebellar peduncle. We performed partial resection of the tumor by suboccipital craniotomy. The histopathological diagnosis was medulloblastoma. Intrinsic brain tumor is an extremely rare cause of sudden sensorineural hearing loss and is therefore easily overlooked as was in the present case. The present case highlights not only the need to evaluate patients with sudden sensorineural hearing loss by magnetic resonance imaging but also the importance of paying attention to intrinsic lesions involving the brainstem. Although this condition like the presented case might be rare, intrinsic brain tumor should be considered as a potential cause of sudden sensorineural hearing loss, as it may be easily missed leading to a delay in appropriate treatment.

Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss

Joo Sun Young,Jang Seung Hyun,Kim Jung Ah,Kim Se Jin,Kim Bonggi,Kim Hye-Youn,Choi Jae Young,Gee Heon Yung,Jung Jinsei 대한의학회 2023 Journal of Korean medical science Vol.38 No.48

Background: Mutations in mitochondrial DNA (mtDNA) are associated with several genetic disorders, including sensorineural hearing loss. However, the prevalence of mtDNA mutations in a large cohort of Korean patients with hearing loss has not yet been investigated. Thus, this study aimed to investigate the frequency of mtDNA mutations in a cohort of with pre- or post-lingual hearing loss of varying severity. Methods: A total of 711 Korean families involving 1,099 individuals were evaluated. Six mitochondrial variants associated with deafness (MTRNR1 m.1555A>G, MTTL1 m.3243A>G, MTCO1 m.7444G>A and m.7445A>G, and MTTS1 m.7471dupC and m.7511T>C) were screened using restriction fragment length polymorphism. The prevalence of the six variants was also analyzed in a large control dataset using whole-genome sequencing data from 4,534 Korean individuals with unknown hearing phenotype. Results: Overall, 12 of the 711 (1.7%) patients with hearing loss had mtDNA variants, with 10 patients from independent families positive for the MTRNR1 m.1555A>G mutation and 2 patients positive for the MTCO1 m.7444G>A mutation. The clinical characteristics of patients with the mtDNA variants were characterized by post-lingual progressive hearing loss due to the m.1555A>G variant (9 of 472; 1.9%). In addition, 18/4,534 (0.4%) of the Korean population have mitochondrial variants associated with hearing loss, predominantly the m.1555A>G variant. Conclusion: A significant proportion of Korean patients with hearing loss is affected by the mtDNA variants, with the m.1555A>G variant being the most prevalent. These results clarify the genetic basis of hearing loss in the Korean population and emphasize the need for genetic testing for mtDNA variants.

감각신경성 난청이 동반된 전신성 홍반성 낭창

이은영 ( Eun Young Lee ),안만수 ( Man Su Ahn ),신정현 ( Jung Hyun Shin ),이창근 ( Chang Keun Lee ),조유숙 ( You Sook Cho ),유빈 ( Bin Yoo ),문희범 ( Hee Bom Moon ) 대한류마티스학회 2001 대한류마티스학회지 Vol.8 No.2

A link between sensorineural hearing loss and autoimmune disease is postulated. The pathogenesis of sudden sensorineural hearing loss (SNHL) in patients with systemic lupus erythematosus (SLE) is not clear. However, several reports have suggested vasculitis secondary to SLE as underlying mechanism or association of antiphospholipid antibody (aPL). Although there were some cases of sensorineural hearing loss associated with systemic lupus erythematosus or lupus-like syndrome treated with plasmapheresis or immunosuppressive agents, there has been no case of SNHL in patients with SLE reported in Korea. We describe an 18-year-old female with systemic lupus erythematosus who presented with sudden sensorineural hearing loss. She was treated with high-dose corticosteroids with favorable clinical outcome.