|Year : 2020 | Volume
| Issue : 2 | Page : 106-108
Classical bartter's syndrome (Type III) with deafness: A very rare case management
Farid A Alzhrani1, Rawan M Hudeib1, Tahera Islam2
1 King Abdullah Ear Specialist Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia
2 College of Medicine and Research Center, King Saud University, Riyadh, Saudi Arabia
|Date of Submission||08-Sep-2019|
|Date of Decision||06-Jan-2020|
|Date of Acceptance||26-Feb-2020|
|Date of Web Publication||17-Jul-2020|
Dr. Farid A Alzhrani
King Abdullah Ear Specialist Center, College of Medicine, King Saud University, PO Box 245, Riyadh 11411
Source of Support: None, Conflict of Interest: None
Bartter syndrome (BS) represents a group of autosomal recessive salt-losing nephropathy, characterized by hypokalemic metabolic alkalosis with normal or low blood pressure. Hearing defect is a feature of BS Type IV and is typically absent in BS I, II, or III. We report the case of a 2-year-old boy with severe to profound sensory neural deafness who diagnosed with BS Type III in the neonatal period. His deafness was noted at 9 months. He used hearing aids regularly for 1 year with very limited benefit, an aided visual reinforcement audiometry test resulted in a reading of only 55 dB. Cochlear implantation was performed at the age of 3 years with excellent postoperative audiometric results and improvement in speech performance. To the best of our knowledge, this is the second-documented case of BS Type III with bilateral sensory neural deafness and the first-reported case of cochlear implantation in such a patient.
Keywords: Bartter syndrome, cochlear implantation, hearing loss, sensorineural deafness, syndromic deafness
|How to cite this article:|
Alzhrani FA, Hudeib RM, Islam T. Classical bartter's syndrome (Type III) with deafness: A very rare case management. Indian J Otol 2020;26:106-8
| Introduction|| |
Bartter syndrome (BS) is a genetic disorder, characterized by hypokalemic metabolic alkalosis with normal or low blood pressure. The characteristics of the most common clinical variants of BS are summarized in [Table 1]. Hearing defect is a primary feature of BS Type IV.,,, Despite the considerable phenotypic heterogeneity observed in the presentation of BS patients, hearing defect is not a classical feature of BS Type I, II, or III. In 2011, the first and only case of sensorineural deafness association with BS Type III was reported in a French–Canadian family. The patient had acquired moderately severe sensory neural hearing loss and had started using a hearing aid.
We report the case of a BS Type III (possibly the only second-documented case) with bilateral sensory neural deafness managed by the cochlear implantation. To the best of our knowledge, this is the first-reported case of cochlear implantation in a patient suffering from BS Type III with associated sensory neural hearing loss. This case report has two major significances: first, in light of the disease phenotype, BS Type III can be associated with bilateral sensory neural hearing loss and second, cochlear implant may be the ideal solution for BS patients with bilateral sensory neural deafness and good IQ levels.
| Case Report|| |
A 2-year-old boy was referred to our ear specialist center, with profound sensory neural deafness. He was recently diagnosed with BS Type III after he suffered from several episodes of erratic hypernatremia, hyponatremia, hyperkalemia, uremia, and elevated levels of creatinine. Genetic investigations discovered the homozygous deletion of CLCNKA and CLCNKB genes confirming the diagnosis with BS Type III. He presented to our center with failure to thrive, nutrition and electrolyte supplementation provided by the gastrostomy tube.
At the age of 9 months, he was found to have bilateral sensorineural hearing loss. The child started using bilateral hearing aids regularly. Unfortunately, these provided very limited benefits to him during the 1-year trial. Moreover, aided visual reinforcement audiometry reached a reading of only 55 dB [Figure 1]. The original tympanogram is added, as shown in [Supplementary Figure 1].
The patient next underwent precochlear implantation assessment protocols. Auditory brain stem responses revealed that the patient had bilateral severe to profound sensory neural hearing loss [Supplementary Figure 2] and a bilateral Type A tympanogram [Supplementary Figure 3]. His evoked otoacoustic emission was absent [Figure 2]. On the other hand, his IQ score was within the normal range (91). The patient developed his speech sufficiently to the level where he was able to utter a few semi words, although he had used pointing as a primary mode of communication.
Bilateral cochlear implantation was performed at the age of 3 years. A dramatic improvement in his condition was observed during the next 3 years he spent on the aural rehabilitation program. Postimplant, his audiometric thresholds improved to 35 dB and later progressed further to 30 dB on average [Figure 1]. The speech reception threshold (SRT) was not measured preoperatively because he did not possess sufficient speech development at 2 years of age. Postconfidence interval, his SRT became normal with an SRT score of 20 db. Currently, his score on the capacity auditory performance (CAP) scale is 9/9 and the speech intelligibility rating scale is 5/5. The patient developed a verbal mode of communication with a mean length of utterance score of 7 and is presently attending a normal schooling program. Informed consent to publish this as case report has been obtained from parents.
| Discussion|| |
BS represents a group of autosomal recessive salt-losing nephropathies resulting from defective distal tubular sodium and chloride reabsorption in the thick-ascending limb of the loop of Henle. This results in the increased excretion of sodium, chloride, and potassium in the urine. The patient typically presents with hypokalemic, hypochloremic metabolic alkalosis, hyperreninemia, and hyperaldosteronism with normal or low blood pressure.
The onset of the BS Type III is later than the neonatal period. Hypercalciuria is typically absent. In Type IV BS or BSND, patients usually present in the neonatal period with prematurity, higher urinary loss of sodium, potassium, and chloride. The sensory neural deafness is a characteristic clinical feature of BS Type IV, due to the mutation of the BSND gene that encodes the protein barttin., Barttin acts as a β–subunit of the chloride channel-ClCKa and ClC-Kb, which is located in the dark and marginal cells of the striavascularis of the inner ear.,, The most striking feature of our patient was that he was suffering from sensory neural deafness but he was genetically confirmed as a case of BS Type III. Deafness is a feature of BS type IV not type III. The deafness may possibly be a new characteristic of BS Type III or it may only represent the incidental coexistence of two separate entities – BS Type III in combination with bilateral sensory neural hearing loss.
In spite of the good outcome of cochlear implantation in different syndromic patients, in general,,, BS patients usually do not achieve excellent postimplantation results. The comparatively poor outcome can be explained by the late implantation of cochlear devices and the various comorbidities that necessitate the frequent hospitalization of such patients. Patients with BS Type IV generally achieve a mean CAP score of 4–6 even with early implantation of a device, as early as 1.4 years.
Our patient achieved dramatic improvement after undergoing cochlear implantation despite his health condition and his frequent hospitalization. The commitment shown by his family toward the aural rehabilitation program and subsequent mapping sessions, the encouraging IQ score of the child along with his high degree of cognitive ability can all be considered as being valid factors that contributed toward the sound progress that the patient has achieved.
Cochlear implantation in BS Type III has not been previously reported. This procedure should be considered for BS patients with bilateral sensory neural deafness and good IQ levels who are currently not benefiting from the hearing aid. Moreover, there is a need for further investigations on the possibility of association of BS Type III with bilateral sensory neural hearing loss.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]