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| UDK 616.61-002-06 616.28-008.14 617.7-007.22 |
ISSN 0350-2899, 32(2007) br.2-3 p.141-145 | ||||||||||
| Case report Sensorineural Hearing Loss, A Way to Diagnosis of Alport Syndrom - Case ReportVesna Stojanović Kamberović (1), Mirjana Rangelov (1), Goran
Bjelogrlić (2), |
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| Summary: Introduction: Alport syndrome (AS) is the most frequent hereditary nephropathy, followed by sensorineural hearing loss and abnormalities of the eye. It appears because of deformation in the glomerular basement membrane construction and basement membrane of basal turn of the cochlea, as well as lens and absence of alfa-5, alfa-3 and alfa-4 chain of collagen type IV. The hereditary aspect is most often dominantly related to the X chromosome (at X22q COL4A5), more rarely autosomically recessive and autosomically dominating. Objective: to indicate the importance of diagnostic methods of this syndrome disease, where the first symptom was deafness of both ears. Method: Diagnosis was set on the basis of anamnesis, the ORL examination, audiological record, impendancemetry, Otoacoustic Emission, laboratory and histological records indicative of kidney function and ophthalmogical finding. Results: Patient, age 8, male, appeared for ORL examination because of loss of hearing in both ears, which was anamnestically noticed in the previous several months. The clinical ORL examination was otoscopically in order, the tympanometry Ty A, cochleostapedial reflex showed a slightly risen threshold of hearing, the audiological record showed mutual sensorineural deafness at high frequencies, of low type up to 60dB. Auditive evoked potentials confirmed that it was not the matter of retrocochlear damage, and the Otoacoustic Emissions remained without answer, which confirmed the drop of hearing larger than 40 dB. Laboratory analyses, of urine in the first place, showed microhematuria and proteinuria of 1gr-117mg/24h and hypercalcemia up to 5mmol /L. The patient was nephrologically examined, biopsy of kidney tissue, (by electronic microscopic examination showed alternating thinning and thickening of glomerular basement membrane with division, reticulation and fragmentation of lamina dense) confirmed the diagnosis AS. By ophthalmological examination lenticonus was found. Changes on the membrane of the basal turn of inner ear cochlea, where Korty’s organ is placed, were the reason of sensorineural damage of hearing. Conclusion: Alport syndrome, heavy hereditary syndrome disease, followed by nephritis, sensorineural hearing loss and abnormalities of the eye, is of progredient course and has bad prognosis. It is treated symptomatically, and genic therapy would only be appropriate. Key words: Alport Syndrome, deafness, nephritis Napomena: kompletan tekst na srpskom jeziku Note: full text in Serbian |
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Corresponding Address: Vesna Stojanović Kamberović Dom zdravlja “Zvezdara” Olge Jovanović br 11, 11 000 Beograd. e-mail: vesnanbgd@yahoo.com Paper received: 12. 8. 2007. Paper accepted: 22. 9. 2007. Published online: 19.10.2007. |
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