Yıl: 2022 Cilt: 64 Sayı: 4 Sayfa Aralığı: 658 - 670 Metin Dili: İngilizce DOI: 10.24953/turkjped.2022.142 İndeks Tarihi: 15-12-2022

Assessment of auditory functions in patients with hepatic glycogen storage diseases

Öz:
Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings. Hypoglycemia may cause sensorineural hearing loss and nocturnal feeding is a risk factor for the development of gastroesophageal reflux that may cause chronic otitis media and hearing loss consequently. We aimed to determine the prevalence and characteristics of hearing loss in hepatic glycogen storage diseases. Methods. A total of 24 patients with hepatic glycogen storage disease (15 glycogen storage disease type I and 9 non type I) and 24 age/sex matched healthy controls were enrolled in the study. Pure tone audiometer, immitansmetry, acoustic reflex measurement, otoacoustic emission test (OAE) and auditory brainstem response (ABR) tests were applied to all participants. Results. Hearing loss was determined in 17/24 patients (12 glycogen storage disease type I and 5 non type I) with pure tone audiometer. Interpretation of all the findings revealed a total of 8 patients had conductive and 9 had mixed hearing loss. All parameters were significantly different than the control group. Conclusions. This is the first study to comprehensively assess the auditory functions of patients with hepatic glycogen storage disease. Audiological findings determined a significantly increased prevalence of conductive/ mixed type hearing loss in the patient group which is a new finding in the literature. Further studies with extended patient numbers are required to enlighten the underlying pathophysiology.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
  • 1. Chen YT, Kishnani PS, Koeberl D. Glycogen Storage Diseases. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA (eds). The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill, 2019.
  • 2. Burda P, Hochuli M. Hepatic glycogen storage disorders: what have we learned in recent years?. Curr Opin Clin Nutr Metab Care 2015; 18: 415-421. https://doi.org/10.1097/MCO.0000000000000181
  • 3. Chou JY, Jun HS, Mansfield BC. Type I glycogen storage diseases: disorders of the glucose-6- phosphatase/glucose-6-phosphate transporter complexes. J Inherit Metab Dis 2015; 38: 511-519. https://doi.org/10.1007/s10545-014-9772-x
  • 4. Preisler N, Pradel A, Husu E, et al. Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency?. Mol Genet Metab 2013; 109: 14-20. https://doi.org/10.1016/j.ymgme.2013.02.008
  • 5. Roscher A, Patel J, Hewson S, et al. The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. Mol Genet Metab 2014; 113: 171- 176. https://doi.org/10.1016/j.ymgme.2014.09.005
  • 6. Bhattacharya K. Investigation and management of the hepatic glycogen storage diseases. Transl Pediatr 2015; 4: 240-248. https://doi.org/10.3978/j.issn.2224-4336.2015.04.07
  • 7. Bener A, Al-Hamaq AOAA, Abdulhadi K, Salahaldin AH, Gansan L. Interaction between diabetes mellitus and hypertension on risk of hearing loss in highly endogamous population. Diabetes Metab Syndr 2017; 11 Suppl 1: S45-S51. https://doi.org/10.1016/j.dsx.2016.09.004
  • 8. Canda E, Kalkan Uçar S, Çoker M. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. Pediatric Health Med Ther 2020; 11: 127- 133. https://doi.org/10.2147%2FPHMT.S198656
  • 9. Gupta S, Eavey RD, Wang M, Curhan SG, Curhan GC. Type 2 diabetes and the risk of incident hearing loss. Diabetologia 2019; 62: 281-285. https://doi.org/10.1007/s00125-018-4766-0
  • 10. Solmaz F, Unal F, Apuhan T. Celiac disease and sensorineural hearing loss in children. Acta Otolaryngol 2012; 132: 146-151. https://doi.org/10.3109/00016489.2011.635384
  • 11. Gettelfinger JD, Dahl JP. Syndromic hearing loss: a brief review of common presentations and genetics. J Pediatr Genet 2018; 7: 1-8. https://doi.org/10.1055/s-0037-1617454
  • 12. Bamiou DE, Campbell P, Liasis A, et al. Audiometric abnormalities in children with Gaucher disease type 3. Neuropediatrics 2001; 32: 136-141. https://doi.org/10.1055/s-2001-16611
  • 13. Keilmann A, Hajioff D, Ramaswami U; FOS Investigators. Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey. J Inherit Metab Dis 2009; 32: 739. https://doi.org/10.1007/s10545-009-1290-x
  • 14. Komura Y, Kaga K, Ogawa Y, Yamaguchi Y, Tsuzuku T, Suzuki JI. ABR and temporal bone pathology in Hurler’s disease. Int J Pediatr Otorhinolaryngol 1998; 43: 179-188. https://doi.org/10.1016/s0165-5876(97)00176-6
  • 15. Endo S, Mizuta K, Yamatodani T, et al. A case of improved hearing with cochlear implantation in Gaucher disease type 1. Auris Nasus Larynx 2018; 45: 603-607. https://doi.org/10.1016/j.anl.2017.05.013
  • 16. Köping M, Shehata-Dieler W, Schneider D, et al. Characterization of vertigo and hearing loss in patients with Fabry disease. Orphanet J Rare Dis 2018; 13: 137. https://doi.org/10.1186/s13023-018-0882-7
  • 17. Gosselin EJ, Yanick P Jr. Audiologic and metabolic findings in 90 patients with fluctuant hearing loss. J Am Audiol Soc 1976; 2: 15-18.
  • 18. Kitabchi AE, Shea JJ. Diabetes mellitus in fluctuant hearing loss. Otolaryngol Clin North Am 1975; 8: 357- 368. https://doi.org/10.1016/s0030-6665(20)32773-0
  • 19. Doroszewska G, Kaźmierczak H. Hyperinsulinemia in vertigo, tinnitus and hearing loss. Otolaryngol Pol 2002; 56: 57-62.
  • 20. Melis D, Parenti G, Della Casa R, et al. Brain damage in glycogen storage disease type I. J Pediatr 2004; 144: 637-642. https://doi.org/10.1016/j.jpeds.2004.02.033
  • 21. Aydemir Y, Gürakan F, Saltık Temizel İN, et al. Evaluation of central nervous system in patients with glycogen storage disease type 1a. Turk J Pediatr 2016; 58: 12-18. https://doi.org/10.24953/turkjped.2016.01.002
  • 22. Clark JG. Uses and abuses of hearing loss classification. ASHA 1981; 23: 493-500.
  • 23. World Health Organization (WHO). International classification of impairments, disabilities and handicaps: a manual of classification related to the consequences of disease. Geneva: WHO, 1980.
  • 24. Kemp DT, Ryan S, Bray P. A guide to the effective use of otoacoustic emissions. Ear Hear 1990; 11: 93-105. https://doi.org/10.1097/00003446-199004000-00004
  • 25. Al-Qahtani A, Haidar H, Larem A, editors. Textbook of Clinical Otolaryngology. Springer International Publishing, 2021. https://doi.org/10.1007/978-3-030-54088-3
  • 26. Isaacson JE, Vora NM. Differential diagnosis and treatment of hearing loss. Am Fam Physician 2003; 68: 1125-1132.
  • 27. Cole EB, Flexer C. Children with hearing loss: developing listening and talking, birth to six. Plural Publishing, 2019.
  • 28. Tisch M, Maier H, Sudhoff H. Balloon dilation of the Eustachian tube: clinical experience in the management of 126 children. Acta Otorhinolaryngol Ital 2017; 37: 509-512. https://doi.org/10.14639/0392- 100X-1690
  • 29. Tos M. Importance of eustachian tube function in middle ear surgery. Ear Nose Throat J 1998; 77: 744- 747. https://doi.org/10.1177/014556139807700911
  • 30. Abtahi SH, Kazerooni A, Brejis N, Abdeyazdan Z, Saneian H. Prevalence and characteristics of gastroesophageal reflux in children with otitis media in Isfahan, Iran. Adv Biomed Res 2016; 5: 81. https://doi.org/10.4103/2277-9175.182212
  • 31. Dale DC, Bolyard AA, Marrero T, et al. Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor. Curr Opin Hematol 2019; 26: 16-21. https://doi. org/10.1097/MOH.0000000000000474
  • 32. Bevan JC. Anaesthesia in Von Gierke’s disease. Current approach to management. Anaesthesia 1980; 35: 699-702. https://doi.org/10.1111/j.1365-2044.1980. tb03884.x
  • 33. Van Creveld S, Huijing F. Glycogen storage disease. Am J Med 1965; 38: 554-561. https://doi. org/10.1016/0002-9343(65)90133-6
  • 34. Bustamante SE, Appachi E. Acute pancreatitis after anesthesia with propofol in a child with glycogen storage disease type IA. Paediatr Anaesth 2006; 16: 680-683. https://doi.org/10.1111/j.1460- 9592.2005.01833.x
  • 35. Farrington FH, Duncan LL, Roth KS. Looking a gift horse in the mouth: effects of cornstarch therapy and other implications of glycogen storage disease on oral hygiene and dentition. Pediatr Dent 1995; 17: 311-314.
  • 36. Assiri YM, Iqbal MM, Almanie RA. Glycogen storage disease in pediatric population. Egyptian Journal of Hospital Medicine 2018; 70: 2067-2071. https://doi. org/10.12816/0045030
  • 37. Williams HE, Kendig EM, Field JB. Leukocyte debranching enzyme in glycogen storage disease. J Clin Invest 1963; 42: 656-660. https://doi.org/10.1172/ JCI104756
  • 38. Kim SY, Chen L-Y, Yiu WH, Weinstein DA, Chou JY. Neutrophilia and elevated serum cytokines are implicated in glycogen storage disease type Ia. FEBS Lett 2007; 581: 3833-3838. https://doi.org/10.1016/j. febslet.2007.07.013
  • 39. Weston BW, Lin JL, Muenzer J, et al. Glucose-6- phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. Pediatr Res 2000; 48: 329-334. https://doi. org/10.1203/00006450-200009000-00011
  • 40. Cameron BH, Blair GK, Murphy JJ 3rd, Fraser GC. Morbidity in neurologically impaired children after percutaneous endoscopic versus Stamm gastrostomy. Gastrointest Endosc 1995; 42: 41-44. https://doi.org/10.1016/s0016-5107(95)70241-5
  • 41. Grunow JE, al-Hafidh A, Tunell WP. Gastroesophageal reflux following percutaneous endoscopic gastrostomy in children. J Pediatr Surg 1989; 24: 42-45. https://doi.org/10.1016/s0022- 3468(89)80298-2
  • 42. Berezin S, Schwarz SM, Halata MS, Newman LJ. Gastroesophageal reflux secondary to gastrostomy tube placement. Am J Dis Child 1986; 140: 699-701. https://doi.org/10.1001/ archpedi.1986.02140210097034
  • 43. Scott RB, O’Loughlin EV, Gall DG. Gastroesophageal reflux in patients with cystic fibrosis. J Pediatr 1985; 106: 223-227. https://doi.org/10.1016/s0022- 3476(85)80291-2
  • 44. Develioglu ON, Yilmaz M, Caglar E, Topak M, Kulekci M. Oto-toxic effect of gastric reflux. J Craniofac Surg 2013; 24: 640-644. https://doi. org/10.1097/SCS.0b013e31827c7dad
  • 45. Heavner SB, Hardy SM, White DR, Prazma J, Pillsbury HC 3rd. Transient inflammation and dysfunction of the eustachian tube secondary to multiple exposures of simulated gastroesophageal refluxant. Ann Otol Rhinol Laryngol 2001; 110: 928- 934. https://doi.org/10.1177/000348940111001007
  • 46. White DR, Heavner SB, Hardy SM, Prazma J. Gastroesophageal reflux and eustachian tube dysfunction in an animal model. Laryngoscope 2002; 112: 955-961. https://doi.org/10.1097/00005537- 200206000-00004
  • 47. Yüksel F, Doğan M, Karataş D, Yüce S, Şentürk M, Külahli I. Gastroesophageal reflux disease in children with chronic otitis media with effusion. J Craniofac Surg 2013; 24: 380-383. https://doi. org/10.1097/SCS.0b013e31827feb08
  • 48. McCoul ED, Goldstein NA, Koliskor B, Weedon J, Jackson A, Goldsmith AJ. A prospective study of the effect of gastroesophageal reflux disease treatment on children with otitis media. Arch Otolaryngol Head Neck Surg 2011; 137: 35-41. https://doi. org/10.1001/archoto.2010.222
  • 49. Hodgen GD. Antiprogestins: the political chemistry of RU486. Fertil Steril 1991; 56: 394-395. https://doi. org/10.1016/s0015-0282(16)54528-2
  • 50. Develoglu ON, Yalcin E, Bulut E, et al. Histopathologic changes in the middle ear mucosa after exposure to pepsin and unconjugated bile acid. J Craniofac Surg 2014; 25: e536-40. https://doi. org/10.1097/SCS.0000000000001041
  • 51. Tasker A, Dettmar PW, Panetti M, Koufman JA, P Birchall J, Pearson JP. Is gastric reflux a cause of otitis media with effusion in children?. Laryngoscope 2002; 112: 1930-1934. https://doi.org/10.1097/00005537- 200211000-00004
  • 52. Crapko M, Kerschner JE, Syring M, Johnston N. Role of extra-esophageal reflux in chronic otitis media with effusion. Laryngoscope 2007; 117: 1419-1423. https://doi.org/10.1097/MLG.0b013e318064f177
  • 53. Iwanicka-Pronicka K, Trubicka J, Szymanska E, et al. Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism. Int J Pediatr Otorhinolaryngol 2021; 151: 110970. https://doi.org/10.1016/j. ijporl.2021.110970
APA emecen şanlı m, YILDIRIM GÖKAY N, Tutar H, Gunduz B, özsaydı aktaşoğlu e, kılıç a, INCI A, OKUR I, Ezgu F, Tumer L (2022). Assessment of auditory functions in patients with hepatic glycogen storage diseases. , 658 - 670. 10.24953/turkjped.2022.142
Chicago emecen şanlı merve,YILDIRIM GÖKAY NURİYE,Tutar Hakan,Gunduz Bulent,özsaydı aktaşoğlu ekin,kılıç ayşe,INCI ASLI,OKUR ILYAS,Ezgu Fatih Suheyl,Tumer Leyla Assessment of auditory functions in patients with hepatic glycogen storage diseases. (2022): 658 - 670. 10.24953/turkjped.2022.142
MLA emecen şanlı merve,YILDIRIM GÖKAY NURİYE,Tutar Hakan,Gunduz Bulent,özsaydı aktaşoğlu ekin,kılıç ayşe,INCI ASLI,OKUR ILYAS,Ezgu Fatih Suheyl,Tumer Leyla Assessment of auditory functions in patients with hepatic glycogen storage diseases. , 2022, ss.658 - 670. 10.24953/turkjped.2022.142
AMA emecen şanlı m,YILDIRIM GÖKAY N,Tutar H,Gunduz B,özsaydı aktaşoğlu e,kılıç a,INCI A,OKUR I,Ezgu F,Tumer L Assessment of auditory functions in patients with hepatic glycogen storage diseases. . 2022; 658 - 670. 10.24953/turkjped.2022.142
Vancouver emecen şanlı m,YILDIRIM GÖKAY N,Tutar H,Gunduz B,özsaydı aktaşoğlu e,kılıç a,INCI A,OKUR I,Ezgu F,Tumer L Assessment of auditory functions in patients with hepatic glycogen storage diseases. . 2022; 658 - 670. 10.24953/turkjped.2022.142
IEEE emecen şanlı m,YILDIRIM GÖKAY N,Tutar H,Gunduz B,özsaydı aktaşoğlu e,kılıç a,INCI A,OKUR I,Ezgu F,Tumer L "Assessment of auditory functions in patients with hepatic glycogen storage diseases." , ss.658 - 670, 2022. 10.24953/turkjped.2022.142
ISNAD emecen şanlı, merve vd. "Assessment of auditory functions in patients with hepatic glycogen storage diseases". (2022), 658-670. https://doi.org/10.24953/turkjped.2022.142
APA emecen şanlı m, YILDIRIM GÖKAY N, Tutar H, Gunduz B, özsaydı aktaşoğlu e, kılıç a, INCI A, OKUR I, Ezgu F, Tumer L (2022). Assessment of auditory functions in patients with hepatic glycogen storage diseases. Turkish Journal of Pediatrics, 64(4), 658 - 670. 10.24953/turkjped.2022.142
Chicago emecen şanlı merve,YILDIRIM GÖKAY NURİYE,Tutar Hakan,Gunduz Bulent,özsaydı aktaşoğlu ekin,kılıç ayşe,INCI ASLI,OKUR ILYAS,Ezgu Fatih Suheyl,Tumer Leyla Assessment of auditory functions in patients with hepatic glycogen storage diseases. Turkish Journal of Pediatrics 64, no.4 (2022): 658 - 670. 10.24953/turkjped.2022.142
MLA emecen şanlı merve,YILDIRIM GÖKAY NURİYE,Tutar Hakan,Gunduz Bulent,özsaydı aktaşoğlu ekin,kılıç ayşe,INCI ASLI,OKUR ILYAS,Ezgu Fatih Suheyl,Tumer Leyla Assessment of auditory functions in patients with hepatic glycogen storage diseases. Turkish Journal of Pediatrics, vol.64, no.4, 2022, ss.658 - 670. 10.24953/turkjped.2022.142
AMA emecen şanlı m,YILDIRIM GÖKAY N,Tutar H,Gunduz B,özsaydı aktaşoğlu e,kılıç a,INCI A,OKUR I,Ezgu F,Tumer L Assessment of auditory functions in patients with hepatic glycogen storage diseases. Turkish Journal of Pediatrics. 2022; 64(4): 658 - 670. 10.24953/turkjped.2022.142
Vancouver emecen şanlı m,YILDIRIM GÖKAY N,Tutar H,Gunduz B,özsaydı aktaşoğlu e,kılıç a,INCI A,OKUR I,Ezgu F,Tumer L Assessment of auditory functions in patients with hepatic glycogen storage diseases. Turkish Journal of Pediatrics. 2022; 64(4): 658 - 670. 10.24953/turkjped.2022.142
IEEE emecen şanlı m,YILDIRIM GÖKAY N,Tutar H,Gunduz B,özsaydı aktaşoğlu e,kılıç a,INCI A,OKUR I,Ezgu F,Tumer L "Assessment of auditory functions in patients with hepatic glycogen storage diseases." Turkish Journal of Pediatrics, 64, ss.658 - 670, 2022. 10.24953/turkjped.2022.142
ISNAD emecen şanlı, merve vd. "Assessment of auditory functions in patients with hepatic glycogen storage diseases". Turkish Journal of Pediatrics 64/4 (2022), 658-670. https://doi.org/10.24953/turkjped.2022.142