CHRONIC RENAL FAILURE IN PATIENT WITH PENDRED SYNDROME

Refika Büberci^*, Murat Duranay, Semahat Karahisar Şirali

Ankara Training and Research Hospital, Nephrology Department/Ankara/Turkey

Introduction: Pendred syndrome is an autosomal recessive genetic disease caused by mutation in the gene encoding pendrin protein in chromosome-7. The pendrin which has HCO3, Cl and iodine affinity, is found in the structure of the inner ear, thyroid gland, kidney. In this article, we presented a case with Pendred syndrome developed chronic renal failure rather than hypokalemic hypochloremic metabolic alkalosis.

Material and methods: A 49-year-old female patient was referred to the nephrology outpatient clinic due to impaired renal function. Biochemistry tests, complete blood count (CBC), complete urinalysis, protein and creatinine in spot urine, autoantibodies were studied in the patient. Renal USG was carried out. A renal biopsy was performed to determine the etiology of kidney failure. Temporal MRI was applied to find out the cause of hearing loss. Genetic testing was studied to confirm the diagnosis of Pendred syndrome.

Results: Renal function tests were found to be impaired. All autoantibodies were negative. It was reported as “Acute tubular injury and chronic tubulo-interstitial nephritis” in renal biopsy Temporal MRI findings were compatible with Pendred syndrome. The genetic revealed the mutation of p.P297QfsX6 was detected in the SLC26A4 gene.

Conclusion: If patients have sensorineural hearing loss, goiter and kidney disease Pendred syndrome should be considered. Renal function can be corrected with early diagnosis and intervention.